4.14 Case Study Conclusion: More Than Just Tired
Created by CK12/Adapted by Christine Miller
Jasmin discovered that her extreme fatigue, muscle pain, vision problems, and vomiting were due to problems in her mitochondria, like the damaged mitochondria shown in red in Figure 4.14.1. Mitochondria are small, membrane-bound organelles found in eukaryotic cells that provide energy for the cells of the body. They do this by carrying out the final two steps of aerobic cellular respiration: the Krebs cycle and electron transport. This is the major way that the human body breaks down the sugar glucose from food into a form of energy cells can use, namely the molecule ATP.
Because mitochondria provide energy for cells, you can understand why Jasmin was experiencing extreme fatigue, particularly after running. Her damaged mitochondria could not keep up with her need for energy, particularly after intense exercise, which requires a lot of additional energy. What is perhaps not so obvious are the reasons for her other symptoms, such as blurry vision, muscle spasms, and vomiting. All of the cells in the body require energy in order to function properly. Mitochondrial diseases can cause problems in mitochondria in any cell of the body, including muscle cells and cells of the nervous system, which includes the brain and nerves. The nervous system and muscles work together to control vision and digestive system functions, such as vomiting, so when they are not functioning properly, a variety of symptoms can emerge. This also explains why Jasmin’s niece, who has a similar mitochondrial disease, has symptoms related to brain function, such as seizures and learning disabilities. Our cells are microscopic, and mitochondria are even tinier — but they are essential for the proper functioning of our bodies. When they are damaged, serious health effects can occur.
One seemingly confusing aspect of mitochondrial diseases is that the type of symptoms, severity of symptoms, and age of onset can vary wildly between people — even within the same family! In Jasmin’s case, she did not notice symptoms until adulthood, while her niece had more severe symptoms starting at a much younger age. This makes sense when you know more about how mitochondrial diseases work.
Inherited mitochondrial diseases can be due to damage in either the DNA in the nucleus of cells or in the DNA in the mitochondria themselves. Recall that mitochondria are thought to have evolved from prokaryotic organisms that were once free-living, but were then infected or engulfed by larger cells. One of the pieces of evidence that supports this endosymbiotic theory is that mitochondria have their own, separate DNA. When the mitochondrial DNA is damaged (or mutated) it can result in some types of mitochondrial diseases. However, these mutations do not typically affect all of the mitochondria in a cell. During cell division, organelles such as mitochondria are replicated and passed down to the new daughter cells. If some of the mitochondria are damaged, and others are not, the daughter cells can have different amounts of damaged mitochondria. This helps explain the wide range of symptoms in people with mitochondrial diseases — even ones in the same family — because different cells in their bodies are affected in varying degrees. Jasmin’s niece was affected strongly and her symptoms were noticed early, while Jasmin’s symptoms were more mild and did not become apparent until adulthood.
There is still much more that needs to be discovered about the different types of mitochondrial diseases. But by learning about cells, their organelles, how they obtain energy, and how they divide, you should now have a better understanding of the biology behind these diseases.
Apply your understanding of cells to your own life. Can you think of other diseases that affect cellular structures or functions. Do they affect people you know? Since your entire body is made of cells, when cells are damaged or not functioning properly, it can cause a wide variety of health problems.
Chapter 4 Summary
Type your learning objectives here.
In this chapter you learned many facts about cells. Specifically, you learned that:
- Cells are the basic units of structure and function of living things.
- The first cells were observed from cork by Hooke in the 1600s. Soon after, van Leeuwenhoek observed other living cells.
- In the early 1800s, Schwann and Schleiden theorized that cells are the basic building blocks of all living things. Around 1850, Virchow saw cells dividing, and added his own theory that living cells arise only from other living cells. These ideas led to cell theory, which states that all organisms are made of cells, all life functions occur in cells, and all cells come from other cells.
- The invention of the electron microscope in the 1950s allowed scientists to see organelles and other structures inside cells for the first time.
- There is variation in cells, but all cells have a plasma membrane, cytoplasm, ribosomes, and DNA.
-
- The plasma membrane is composed mainly of a bilayer of phospholipid molecules and forms a barrier between the cytoplasm inside the cell and the environment outside the cell. It allows only certain substances to pass in or out of the cell. Some cells have extensions of their plasma membrane with other functions, such as flagella or cilia.
- Cytoplasm is a thick solution that fills a cell and is enclosed by the plasma membrane. It helps give the cell shape, holds organelles, and provides a site for many of the biochemical reactions inside the cell. The liquid part of the cytoplasm is called cytosol.
- Ribosomes are small structures where proteins are made.
- Cells are usually very small, so they have a large enough surface area-to-volume ratio to maintain normal cell processes. Cells with different functions often have different shapes.
- Prokaryotic cells do not have a nucleus. Eukaryotic cells have a nucleus, as well as other organelles. An organelle is a structure within the cytoplasm of a cell that is enclosed within a membrane and performs a specific job.
- The cytoskeleton is a highly organized framework of protein filaments and tubules that criss-cross the cytoplasm of a cell. It gives the cell shape and helps to hold cell structures (such as organelles) in place.
- The nucleus is the largest organelle in a eukaryotic cell. It is considered to be the cell’s control center, and it contains DNA and controls gene expression, including which proteins the cell makes.
- The mitochondrion is an organelle that makes energy available to cells. According to the widely accepted endosymbiotic theory, mitochondria evolved from prokaryotic cells that were once free-living organisms that infected or were engulfed by larger prokaryotic cells.
- The endoplasmic reticulum (ER) is an organelle that helps make and transport proteins and lipids. Rough endoplasmic reticulum (RER) is studded with ribosomes. Smooth endoplasmic reticulum (SER) has no ribosomes.
- The Golgi apparatus is a large organelle that processes proteins and prepares them for use both inside and outside the cell. It is also involved in the transport of lipids around the cell.
- Vesicles and vacuoles are sac-like organelles that may be used to store and transport materials in the cell or as chambers for biochemical reactions. Lysosomes and peroxisomes are vesicles that break down foreign matter, dead cells, or poisons.
- Centrioles are organelles located near the nucleus that help organize the chromosomes before cell division so each daughter cell receives the correct number of chromosomes.
- There are two basic ways that substances can cross the cell’s plasma membrane: passive transport (which requires no energy expenditure by the cell) and active transport (which requires energy).
- No energy is needed from the cell for passive transport because it occurs when substances move naturally from an area of higher concentration to an area of lower concentration. Types of passive transport in cells include:
-
- Simple diffusion, which is the movement of a substance due to differences in concentration without any help from other molecules. This is how very small, hydrophobic molecules, such as oxygen and carbon dioxide, enter and leave the cell.
- Osmosis, which is the diffusion of water molecules across the membrane.
- Facilitated diffusion, which is the movement of a substance across a membrane due to differences in concentration, but only with the help of transport proteins in the membrane (such as channel proteins or carrier proteins). This is how large or hydrophilic molecules and charged ions enter and leave the cell.
- Active transport requires energy to move substances across the plasma membrane, often because the substances are moving from an area of lower concentration to an area of higher concentration or because of their large size. Two examples of active transport are the sodium-potassium pump and vesicle transport.
-
- The sodium-potassium pump moves sodium ions out of the cell and potassium ions into the cell, both against a concentration gradient, in order to maintain the proper concentrations of both ions inside and outside the cell and to thereby control membrane potential.
- Vesicle transport uses vesicles to move large molecules into or out of cells.
- Energy is the ability to do work. It is needed by every living cell to carry out life processes.
- The form of energy that living things need is chemical energy, and it comes from food. Food consists of organic molecules that store energy in their chemical bonds.
- Autotrophs (producers) make their own food. Think of plants that make food by photosynthesis. Heterotrophs (consumers) obtain food by eating other organisms.
- Organisms mainly use the molecules glucose and ATP for energy. Glucose is the compact, stable form of energy that is carried in the blood and taken up by cells. ATP contains less energy and is used to power cell processes.
- The flow of energy through living things begins with photosynthesis, which creates glucose. The cells of organisms break down glucose and make ATP.
- Cellular respiration is the aerobic process by which living cells break down glucose molecules, release energy, and form molecules of ATP. Overall, this three-stage process involves glucose and oxygen reacting to form carbon dioxide and water.
-
- Glycolysis, the first stage of cellular respiration, takes place in the cytoplasm. In this step, enzymes split a molecule of glucose into two molecules of pyruvate, which releases energy that is transferred to ATP.
- Transition Reaction takes place between glycolysis and Krebs Cycle. It is a very short reaction in which the pyruvate molecules from glycolysis are converted into Acetyl CoA in order to enter the Krebs Cycle.
- Krebs Cycle, the second stage of cellular respiration, takes place in the matrix of a mitochondrion. During this stage, two turns through the cycle result in all of the carbon atoms from the two pyruvate molecules forming carbon dioxide and the energy from their chemical bonds being stored in a total of 16 energy-carrying molecules (including four from glycolysis).
- The Electron Transport System, he third stage of cellular respiration, takes place on the inner membrane of the mitochondrion. Electrons are transported from molecule to molecule down an electron-transport chain. Some of the energy from the electrons is used to pump hydrogen ions across the membrane, creating an electrochemical gradient that drives the synthesis of many more molecules of ATP.
- In all three stages of aerobic cellular respiration combined, as many as 38 molecules of ATP are produced from just one molecule of glucose.
- Some organisms can produce ATP from glucose by anaerobic respiration, which does not require oxygen. Fermentation is an important type of anaerobic process. There are two types: alcoholic fermentation and lactic acid fermentation. Both start with glycolysis.
-
- Alcoholic fermentation is carried out by single-celled organisms, including yeasts and some bacteria. We use alcoholic fermentation in these organisms to make biofuels, bread, and wine.
- Lactic acid fermentation is undertaken by certain bacteria, including the bacteria in yogurt, and also by our muscle cells when they are worked hard and fast.
- Anaerobic respiration produces far less ATP (typically produces 2 ATP) than does aerobic cellular respiration, but it has the advantage of being much faster.
- The cell cycle is a repeating series of events that includes growth, DNA synthesis, and cell division.
- In a eukaryotic cell, the cell cycle has two major phases: interphase and mitotic phase. During interphase, the cell grows, performs routine life processes, and prepares to divide. During mitotic phase, first the nucleus divides (mitosis) and then the cytoplasm divides (cytokinesis), which produces two daughter cells.
-
- Until a eukaryotic cell divides, its nuclear DNA exists as a grainy material called chromatin. After DNA replicates and the cell is about to divide, the DNA condenses and coils into the X-shaped form of a chromosome. Each chromosome consists of two sister chromatids, which are joined together at a centromere.
- During mitosis, sister chromatids separate from each other and move to opposite poles of the cell. This happens in four phases: prophase, metaphase, anaphase, and telophase.
- The cell cycle is controlled mainly by regulatory proteins that signal the cell to either start or delay the next phase of the cycle at key checkpoints.
- Cancer is a disease that occurs when the cell cycle is no longer regulated, often because the cell’s DNA has become damaged. Cancerous cells grow out of control and may form a mass of abnormal cells called a tumor.
In this chapter, you learned about cells and some of their functions, as well as how they pass genetic material in the form of DNA to their daughter cells. In the next chapter, you will learn how DNA is passed down to offspring, which causes traits to be inherited. These traits may be innocuous (such as eye colour) or detrimental (such as mutations that cause disease). The study of how genes are passed down to offspring is called genetics, and as you will learn in the next chapter, this is an interesting topic that is highly relevant to human health.
Chapter 4 Review
- Sequence:
- Drag and Drop:
- True or False:
- Multiple Choice:
- Briefly explain how the energy in the food you eat gets there, and how it provides energy for your neurons in the form necessary to power this process.
- Explain why the inside of the plasma membrane — the side that faces the cytoplasm of the cell — must be hydrophilic.
- Explain the relationships between interphase, mitosis, and cytokinesis.
Attributions
Figure 4.14.1
Mitochondrial Disease muscle sample by Nephron is used under a CC BY-SA 3.0 (https://creativecommons.org/licenses/by-sa/3.0) license.
Figure 4.14.2
Aunt and Niece by Tatiana Rodriguez on Unsplash is used under the Unsplash License (https://unsplash.com/license).
Reference
Wikipedia contributors. (2020, June 6). Mitochondrial disease. In Wikipedia. https://en.wikipedia.org/w/index.php?title=Mitochondrial_disease&oldid=961126371
Created by CK-12/Adapted by Christine Miller
Why Are Humans Such Sweaty Animals?
Combine exercise and a hot day, and you get sweat — and lots of it. Sweating is one of the adaptations humans have evolved to maintain homeostasis, or a constant internal environment. When sweat evaporates from the skin, it uses up some of the excess heat energy on the skin, thus helping to reduce the body's temperature. Humans are among the sweatiest of all species, with a fine-tuned ability to maintain a steady internal temperature, even at very high outside temperatures.
Unifying Principles of Biology
All living things have mechanisms for homeostasis. Homeostasis is one of four basic principles or theories that explain the structure and function of all species (including our own). Whether biologists are interested in ancient life, the life of bacteria, or how humans could live on Mars, they base their understanding of biology on these unifying principles:
- Cell theory
- Gene theory
- Homeostasis
- Evolutionary theory
Cell Theory
According to cell theory, all living things are made of cells, and living cells come only from other living cells. Each living thing begins life as a single cell. Some living things, including bacteria, remain single-celled. Other living things, including plants and animals, grow and develop into many cells. Your own body is made up of an amazing 100 trillion cells. But even you — like all other living things — began life as a single cell.
Watch this TED-Ed video about the origin of cell theory:
https://www.youtube.com/watch?v=4OpBylwH9DU
The Wacky History of Cell Theory - Lauren Royal-Woods, TED-Ed, 2012
Gene Theory
Gene theory is the idea that the characteristics of living things are controlled by genes, which are passed from parents to their offspring. Genes are located on larger structures called chromosomes. Chromosomes are found inside every cell, and they consist of molecules of DNA (deoxyribonucleic acid). Those molecules of DNA are encoded with instructions that "tell" cells how to behave.
Homeostasis
Homeostasis, or the condition in which a system is maintained in a more-or-less steady state, is a characteristic of individual living things, like the human ability to sweat. Homeostasis also applies to the entire biosphere, wherever life is found on Earth. Consider the concentration of oxygen in Earth's atmosphere. Oxygen makes up 21 per cent of the atmosphere, and this concentration is fairly constant. What maintains this homeostasis in the atmosphere? The answer is living things.
Most living things need oxygen to survive, so they remove oxygen from the air. On the other hand, many living things, including plants, give off oxygen when they convert carbon dioxide and water to food in the process of photosynthesis. These two processes balance out so the air maintains a constant level of oxygen.
Evolutionary Theory
Evolution is a change in the characteristics of populations of living things over time. Evolution can occur by a process called natural selection, which results from random genetic mutations in a population. If these mutations lead to changes that allow the living things to better survive, then their chances of surviving and reproducing in a given environment increase. They will then pass more genes to the next generation. Over many generations, this can lead to major changes in the characteristics of those living things. Evolution explains how living things are changing today, as well as how modern living things descended from ancient life forms that no longer exist on Earth.
Traits that help living things survive and reproduce in a given environment are called adaptations. You can see an obvious adaptation in the image below. The chameleon is famous for its ability to change its colour to match its background as camouflage. Using camouflage, the chameleon can hide in plain sight.
Feature: Myth vs. Reality
Misconceptions about evolution are common. They include the following myths:
Myth |
Reality |
"Evolution is "just" a theory or educated guess." | Scientists accept evolutionary theory as the best explanation for the diversity of life on Earth because of the large body of scientific evidence supporting it. Like any scientific theory, evolution is a broad, evidence-supported explanation for multiple phenomena. |
"The theory of evolution explains how life on Earth began." | The theory of evolution explains how life changed on Earth after it began. |
"The theory of evolution means that humans evolved from apes like those in zoos." | Humans and modern apes both evolved from a common ape-like ancestor millions of years ago. |
2.3 Summary
- Four basic principles or theories unify all fields of biology: cell theory, gene theory, homeostasis, and evolutionary theory.
- According to cell theory, all living things are made of cells and come from other living cells.
- Gene theory states that the characteristics of living things are controlled by genes that pass from parents to offspring.
- All living things strive to maintain internal balance, or homeostasis.
- The characteristics of populations of living things change over time through the process of micro-evolution as organisms acquire adaptations, or traits that better suit them to a given environment.
Use the flashcards below to review the four principles:
2.3 Review Questions
-
- How does sweating help the human body maintain homeostasis?
- Explain cell theory and gene theory.
- Describe an example of homeostasis in the atmosphere.
- Describe how you can apply the concepts of evolution,natural selection, adaptation, and homeostasis to the human ability to sweat.
- Which of the four unifying principles of biology is primarily concerned with:
- how DNA is passed down to offspring?
- how internal balance is maintained?
- _____________ are located on ______________.
- chromosomes; genes
- genes;chromosomes
- genes; traits
- none of the above
- Define an adaptation and give one example.
- Explain how gene theory and evolutionary theory relate to each other.
- Does evolution by natural selection occur within one generation? Why or why not?
- Explain why you think chameleons evolved the ability to change their colour to match their background, as well as how natural selection may have acted on the ancestors of chameleons to produce this adaptation.
2.3 Explore More
https://www.youtube.com/watch?v=Wg5DBH6uMCw&feature=emb_logo
Myths and misconceptions about evolution - Alex Gendler, TEDEd, 2013
Attributions
Figure 2.3.1
Photo(perspiration), by Hans Reniers on Unsplash. is used under the Unsplash license (https://unsplash.com/license).
Figure 2.3.2
Mediterranean Chameleon Reptile Lizard, by user:1588877 on Pixabay, is used under the Pixabay license (https://pixabay.com/de/service/license/).
References
TED-Ed. (2012, June 4). The wacky history of cell theory - Lauren Royal-Woods. YouTube. https://www.youtube.com/watch?v=4OpBylwH9DU&feature=youtu.be
TED-Ed. (2013, July 8). Myths and misconceptions about evolution - Alex Gendler. YouTube. https://www.youtube.com/watch?v=mZt1Gn0R22Q&t=10s
Created by: CK-12/Adapted by Christine Miller
After reading this chapter, you should be able to see numerous connections between chemistry, human life, and health. In Joseph’s situation, chemistry is involved in the reasons why his father has diabetes, why his personal risk of getting diabetes is high, and why the dietary changes he is considering could be effective.
Type 2 diabetes affects populations worldwide and is caused primarily by a lack of response in the body to the hormone insulin, which causes problems in the regulation of blood sugar, or glucose. Insulin is a peptide hormone, and as you have learned, peptides are chains of amino acids. Therefore, insulin is in the class of biochemical compounds called proteins. Joseph is at increased risk of diabetes partly because there is a genetic component to the disease. DNA, which is a type of chemical compound called a nucleic acid, is passed down from parents to their offspring, and carries the instructions for the production of proteins in units called genes. If there is a problem in a gene (or genes) that contributes to the development of a disease, such as type 2 diabetes, this can get passed down to the offspring and may raise that child’s risk of getting the disease.
But genetics is only part of the reason why Joseph is at an increased risk of diabetes. Obesity itself is a risk factor, and one that can be shared in families due to shared lifestyle factors (such as poor diet and lack of exercise), as well as genetics. Consumption of too many refined carbohydrates (like white bread and soda) may also contribute to obesity and the development of diabetes. As you probably now know, these simple carbohydrates are more easily and quickly broken down in the digestive system into glucose than larger complex carbohydrate molecules, such as those found in vegetables and whole grains. This can lead to dramatic spikes in blood sugar levels, which is particularly problematic for people with diabetes because they have trouble maintaining their blood sugar at a safe level. You can understand why Joseph’s father limits his consumption of refined carbohydrates, and in fact, some scientific studies have shown that avoiding refined carbohydrates may actually help reduce the risk of getting diabetes in the first place.
Joseph’s friend recommended eating a low fat, high carbohydrate diet to lose weight, but you can see that the type of carbohydrate — simple or complex — is an important consideration. Eating a large amount of white bread and rice may not help Joseph reduce his risk of diabetes, but a healthy diet that helps him lose weight may lower his risk of diabetes, since obesity itself is a factor. Which specific diet will work best to help him lose weight probably depends on a variety of factors, including his biology, lifestyle, and food preferences. Joseph should consult with his doctor about his diet and exercise plan, so that his specific situation can be taken into account and monitored by a medical professional.
Drinking enough water is usually good advice for everyone, especially if it replaces sugary drinks like soda. You now know that water is important for many of the chemical reactions that take place in the body. But you can have too much of a good thing — as in the case of marathon runners who can make themselves sick from drinking too much water! As you can see, proper balance, or homeostasis, is very important to the health of living organisms.
Finally, you probably now realize that “chemicals” do not have to be scary, toxic substances. All matter consists of chemicals, including water, your body, and healthy fresh fruits and vegetables, like the ones pictured in Figure 3.12.2. When people advocate “clean eating” and avoiding “chemicals” in food, they are usually referring to avoiding synthetic — or man-made — chemical additives, such as preservatives. This can be a healthy way to eat because it involves eating a variety of whole, fresh, unprocessed foods. But there is no reason to be scared of chemicals in general — they are simply molecules and how they react depends on what they are, what other molecules are present, and the environmental conditions surrounding them.
Chapter 3 Summary
By now, you should have a good understanding of the basics of the chemistry of life. Specifically, you have learned:
- All matter consists of chemical substances. A chemical substance has a definite and consistent composition and may be either an element or a compound.
- An element is a pure substance that cannot be broken down into other types of substances.
- An atom is the smallest particle of an element that still has the properties of that element. Atoms, in turn, are composed of subatomic particles, including negative electrons, positive protons, and neutral neutrons. The number of protons in an atom determines the element it represents.
- Atoms have equal numbers of electrons and protons, so they have no charge. Ions are atoms that have lost or gained electrons, so they have either a positive or negative charge. Atoms with the same number of protons but different numbers of neutrons are called isotopes.
- There are almost 120 known elements. The majority of elements are metals. A smaller number are nonmetals, including carbon, hydrogen, and oxygen.
- A compound is a substance that consists of two or more elements in a unique composition. The smallest particle of a compound is called a molecule. Chemical bonds hold together the atoms of molecules. Compounds can form only in chemical reactions, and they can break down only in other chemical reactions.
- Biochemical compounds are carbon-based compounds found in living things. They make up cells and other structures of organisms and carry out life processes. Most biochemical compounds are large molecules called polymers that consist of many repeating units of smaller molecules called monomers.
- There are millions of different biochemical compounds, but all of them fall into four major classes: carbohydrates, lipids, proteins, and nucleic acids.
- Carbohydrates are the most common class of biochemical compounds. They provide cells with energy, store energy, and make up organic structures, such as the cell walls of plants. The basic building block of carbohydrates is the monosaccharide.
- Sugars are short-chain carbohydrates that supply us with energy. Simple sugars, such as glucose, consist of just one monosaccharide. Some sugars, such as sucrose (or table sugar) consist of two monosaccharides and are called disaccharides.
- Complex carbohydrates, or polysaccharides, consist of hundreds or even thousands of monosaccharides. They include starch, glycogen, cellulose, and chitin.
- Starch is made by plants to store energy and is readily broken down into its component sugars during digestion.
- Glycogen is made by animals and fungi to store energy and plays a critical part in the homeostasis of blood glucose levels in humans.
- Cellulose is the most common biochemical compound in living things. It forms the cell walls of plants and certain algae. Humans cannot digest cellulose, but it makes up most of the crucial dietary fibre in the human diet.
- Chitin makes up organic structures, such as the cell walls of fungi and the exoskeletons of insects and other arthropods.
- Lipids include fats and oils. They store energy, form cell membranes, and carry messages.
- Lipid molecules consist mainly of repeating units called fatty acids. Fatty acids may be saturated or unsaturated, depending on the proportion of hydrogen atoms they contain. Animals store fat as saturated fatty acids, while plants store fat as unsaturated fatty acids.
- Types of lipids include triglycerides, phospholipids, and steroids.
- Triglycerides contain glycerol (an alcohol) in addition to fatty acids. Humans and other animals store fat as triglycerides in fat cells.
- Phospholipids contain phosphate and glycerol in addition to fatty acids. They are the main component of cell membranes in all living things.
- Steroids are lipids with a four-ring structure. Some steroids, such as cholesterol, are important components of cell membranes. Many other steroids are hormones.
- In living things, proteins include enzymes, antibodies, and numerous other important compounds. They help cells keep their shape, make up muscles, speed up chemical reactions, and carry messages and materials (among other functions).
- Proteins are made up of small monomer molecules called amino acids.
- Long chains of amino acids form polypeptides. The sequence of amino acids in polypeptides makes up the primary structure of proteins. Secondary structure refers to configurations such as helices and sheets within polypeptide chains. Tertiary structure is a protein's overall three-dimensional shape, which controls the molecule's basic function. A quaternary structure forms if multiple protein molecules join together and function as a complex.
- The chief characteristic that allows proteins' diverse functions is their ability to bind specifically and tightly with other molecules.
- Nucleic acids include DNA and RNA. They encode instructions for making proteins, helping make proteins, and passing the encoded instructions from parents to offspring.
- Nucleic acids are built of monomers called nucleotides, which bind together in long chains to form polynucleotides. DNA consists of two polynucleotides, and RNA consists of one polynucleotide.
- Each nucleotide consists of a sugar molecule, phosphate group, and nitrogen base. Sugars and phosphate groups of adjacent nucleotides bind together to form the "backbone" of the polynucleotide. Bonds between complementary bases hold together the two polynucleotide chains of DNA and cause it to take on its characteristic double helix shape.
- DNA makes up genes, and the sequence of nitrogen bases in DNA makes up the genetic code for the synthesis of proteins. RNA helps synthesize proteins in cells. The genetic code in DNA is also passed from parents to offspring during reproduction, explaining how inherited characteristics are passed from one generation to the next.
- A chemical reaction is a process that changes some chemical substances into others. A substance that starts a chemical reaction is called a reactant, and a substance that forms in a chemical reaction is called a product. During the chemical reaction, bonds break in reactants and new bonds form in products.
- Chemical reactions can be represented by chemical equations. According to the law of conservation of mass, mass is always conserved in a chemical reaction, so a chemical equation must be balanced, with the same number of atoms of each type of element in the products as in the reactants.
- Many chemical reactions occur all around us each day, such as iron rusting and organic matter rotting, but not all changes are chemical processes. Some changes, such as ice melting or paper being torn into smaller pieces, are physical processes that do not involve chemical reactions and the formation of new substances.
- All chemical reactions involve energy, and they require activation energy to begin. Exothermic reactions release energy. Endothermic reactions absorb energy.
- Biochemical reactions are chemical reactions that take place inside living things. The sum of all the biochemical reactions in an organism is called metabolism. Metabolism includes catabolic reactions (exothermic reactions) and anabolic reactions (endothermic reactions).
- Most biochemical reactions require a biological catalyst called an enzyme to speed up the reaction by reducing the amount of activation energy needed for the reaction to begin. Most enzymes are proteins that affect just one specific substance, called the enzyme's substrate.
- Virtually all living things on Earth require liquid water. Only a tiny per cent of Earth's water is fresh liquid water. Water exists as a liquid over a wide range of temperatures, and it dissolves many substances. These properties depend on water's polarity, which causes water molecules to "stick" together through weak bonds called hydrogen bonds.
- The human body is about 70 per cent water (outside of fat). Organisms need water to dissolve many substances and for most biochemical processes, including photosynthesis and cellular respiration.
- A solution is a mixture of two or more substances that has the same composition throughout. Many solutions consist of water and one or more dissolved substances.
- Acidity is a measure of the hydronium ion concentration in a solution. Pure water has a very low concentration and a pH of 7, which is the point of neutrality on the pH scale. Acids have a higher hydronium ion concentration than pure water and a pH lower than 7. Bases have a lower hydronium ion concentration than pure water and a pH higher than 7.
- Many acids and bases in living things are secreted to provide the proper pH for enzymes to work properly.
Now you understand the chemistry of the molecules that make up living things. In the next chapter, you will learn how these molecules make up the basic unit of structure and function in living organisms — cells — and you will be able to understand some of the crucial chemical reactions that occur within cells.
Chapter 3 Review
-
- The chemical formula for the complex carbohydrate glycogen is C24H42O21.
- What are the elements in glycogen?
- How many atoms are in one molecule of glycogen?
- Is glycogen an ion? Why or why not?
- Is glycogen a monosaccharide or a polysaccharide? Besides memorizing this fact, how would you know this based on the information in the question?
- What is the function of glycogen in the human body?
- What is the difference between an ion and a polar molecule? Give an example of each in your explanation.
- Define monomer and polymer.
-
- What is the difference between a protein and a polypeptide?
-
- People with diabetes have trouble controlling the level of glucose in their bloodstream. Knowing this, why do you think it is often recommended that people with diabetes limit their consumption of carbohydrates?
- Identify each of the following reactions as endothermic or exothermic.
- cellular respiration
- photosynthesis
- catabolic reactions
- anabolic reactions
- Pepsin is an enzyme in the stomach that helps us digest protein. Answer the following questions about pepsin:
- What is the substrate for pepsin?
- How does pepsin work to speed up protein digestion?
- Given what you know about the structure of proteins, what do you think are some of the products of the reaction that pepsin catalyzes?
- The stomach is normally acidic. What do you think would happen to the activity of pepsin and protein digestion if the pH is raised significantly?
Attributions
Figure 3.13.1
Prevalence_of_Diabetes_by_Percent_of_Country_Population_(2014)_Gradient_Map by Walter Scott Wilkens [Wwilken2], University of Illinois - Urbana Champaign Department of Geography and GIScience, on Wikimedia Commons, is used under a CC BY-SA 4.0 (https://creativecommons.org/licenses/by-sa/4.0) license.
Figure 3.13.2
Healthy plate by Melinda Young Stuart on Flickr is used under a CC BY-NC-ND 2.0 (https://creativecommons.org/licenses/by-nc-nd/2.0/) license.
Created by: CK-12/Adapted by Christine Miller
What Makes You...You?
This young woman has naturally red hair (Figure 5.3.1). Why is her hair red instead of some other colour? In general, what gives her the specific traits she has? There is a molecule in human beings and most other living things that is largely responsible for their traits. The molecule is large and has a spiral structure in eukaryotes. What molecule is it? With these hints, you probably know that the molecule is DNA.
Introducing DNA
Today, it is commonly known that DNA is the genetic material that is passed from parents to offspring and determines our traits. For a long time, scientists knew such molecules existed — that is, they were aware that genetic information is contained within biochemical molecules. What they didn’t know was which specific molecules play this role. In fact, for many decades, scientists thought that proteins were the molecules that contain genetic information.
Discovery that DNA is the Genetic Material
Determining that DNA is the genetic material was an important milestone in biology. It took many scientists undertaking creative experiments over several decades to show with certainty that DNA is the molecule that determines the traits of organisms. This research began in the early part of the 20th century.
Griffith's Experiments with Mice
One of the first important discoveries was made in the 1920s by an American scientist named Frederick Griffith. Griffith was studying mice and two different strains of a bacterium, called R (rough)-strain and S (smooth)-strain. He injected the two bacterial strains into mice. The S-strain was virulent and killed the mice, whereas the R-strain was not virulent and did not kill the mice. You can see these details in Figure 5.3.2. Griffith also injected mice with S-strain bacteria that had been killed by heat. As expected, the dead bacteria did not harm the mice. However, when the dead S-strain bacteria were mixed with live R-strain bacteria and injected, the mice died.
Based on his observations, Griffith deduced that something in the dead S-strain was transferred to the previously harmless R-strain, making the R-strain deadly. What was this "something?" What type of substance could change the characteristics of the organism that received it?
Avery and His Colleagues Make a Major Contribution
In the early 1940s, a team of scientists led by Canadian-American Oswald Avery tried to answer the question raised by Griffith’s research results. First, they inactivated various substances in the S-strain bacteria. Then they killed the S-strain bacteria and mixed the remains with live R-strain bacteria. (Keep in mind that the R-strain bacteria normally did not harm the mice.) When they inactivated proteins, the R-strain was deadly to the injected mice. This ruled out proteins as the genetic material. Why? Even without the S-strain proteins, the R-strain was changed (or transformed) into the deadly strain. However, when the researchers inactivated DNA in the S-strain, the R-strain remained harmless. This led to the conclusion that DNA — and not protein — is the substance that controls the characteristics of organisms. In other words, DNA is the genetic material.
Hershey and Chase Confirm the Results
The conclusion that DNA is the genetic material was not widely accepted until it was confirmed by additional research. In the 1950s, Alfred Hershey and Martha Chase did experiments with viruses and bacteria. Viruses are not cells. Instead, they are basically DNA (or RNA) inside a protein coat. To reproduce, a virus must insert its own genetic material into a cell (such as a bacterium). Then, it uses the cell’s machinery to make more viruses. The researchers used different radioactive elements to label the DNA and proteins in DNA viruses. This allowed them to identify which molecule the viruses inserted into bacterial cells. DNA was the molecule they identified. This confirmed that DNA is the genetic material.
Chargaff Focuses on DNA Bases
Other important discoveries about DNA were made in the mid-1900s by Erwin Chargaff. He studied DNA from many different species and was especially interested in the four different nitrogen bases of DNA: adenine (A), guanine (G), cytosine (C), and thymine (T). Chargaff found that concentrations of the four bases differed between species. Within any given species, however, the concentration of adenine was always the same as the concentration of thymine, and the concentration of guanine was always the same as the concentration of cytosine. These observations came to be known as Chargaff’s rules. The significance of the rules would not be revealed until the double-helix structure of DNA was discovered.
Discovery of the Double Helix
After DNA was shown to be the genetic material, scientists wanted to learn more about its structure and function. James Watson and Francis Crick are usually given credit for discovering that DNA has a double helix shape, as shown in Figure 5.3.3. In fact, Watson and Crick's discovery of the double helix depended heavily on the prior work of Rosalind Franklin and other scientists, who had used X-rays to learn more about DNA’s structure. Unfortunately, Franklin and these others have not always been given credit for their important contributions to the discovery of the double helix.
The DNA molecule has a double helix shape — the same basic shape as a spiral staircase. Do you see the resemblance? Which parts of the DNA molecule are like the steps of the spiral staircase?
The double helix shape of DNA, along with Chargaff’s rules, led to a better understanding of DNA. As a nucleic acid, DNA is made from nucleotide monomers. Long chains of nucleotides form polynucleotides, and the DNA double helix consists of two polynucleotide chains. Each nucleotide consists of a sugar (deoxyribose), a phosphate group, and one of the four bases (adenine, cytosine, guanine, or thymine). The sugar and phosphate molecules in adjacent nucleotides bond together and form the "backbone" of each polynucleotide chain.
Scientists concluded that bonds between the bases hold together the two polynucleotide chains of DNA. Moreover, adenine always bonds with thymine, and cytosine always bonds with guanine. That's why these pairs of bases are called complementary base pairs. Adenine and guanine have a two-ring structure, whereas cytosine and thymine have just one ring. If adenine were to bond with guanine, as well as thymine, for example, the distance between the two DNA chains would vary. When a one-ring molecule (like thymine) always bonds with a two-ring molecule (like adenine), however, the distance between the two chains remains constant. This maintains the uniform shape of the DNA double helix. The bonded base pairs (A-T and G-C) stick into the middle of the double helix, forming the "steps" of the spiral staircase.
5.3 Summary
- Determining that DNA is the genetic material was an important milestone in biology. One of the first important discoveries was made in the 1920s, when Griffith showed that something in virulent bacteria could be transferred to nonvirulent bacteria, making them virulent, as well.
- In the early 1940s, Avery and colleagues showed that the "something" Griffith found in his research was DNA and not protein. This result was confirmed by Hershey and Chase, who demonstrated that viruses insert DNA into bacterial cells so the cells will make copies of the viruses.
- In the mid-1950s, Chargaff showed that, within the DNA of any given species, the concentration of adenine is always the same as the concentration of thymine, and that the concentration of guanine is always the same as the concentration of cytosine. These observations came to be known as Chargaff's rules.
- Around the same time, James Watson and Francis Crick, building on the prior X-ray research of Rosalind Franklin and others, discovered the double-helix structure of the DNA molecule. Along with Chargaff's rules, this led to a better understanding of DNA's structure and function.
- Knowledge of DNA's structure helped scientists understand how DNA replicates, which must occur before cell division occurs so each daughter cell will have a complete set of chromosomes.
5.3 Review Questions
- Outline the discoveries that led to the determination that DNA (not protein) is the biochemical molecule that contains genetic information.
- State Chargaff's rules. Explain how the rules are related to the structure of the DNA molecule.
- Explain how the structure of a DNA molecule is like a spiral staircase. Which parts of the staircase represent the various parts of the molecule?
-
- Why do you think dead S-strain bacteria injected into mice did not harm the mice, but killed them when mixed with living (and normally harmless) R-strain bacteria?
- In Griffith’s experiment, do you think the heat treatment that killed the bacteria also inactivated the bacterial DNA? Why or why not?
- Give one example of the specific evidence that helped rule out proteins as genetic material.
5.3 Explore More
https://www.youtube.com/watch?v=V6bKn34nSbk
The Discovery of the Structure of DNA, OpenMind, 2017.
https://www.youtube.com/watch?time_continue=5&v=JiME-W58KpU&feature=emb_logo
Rosalind Franklin: Great Minds, SciShow, 2013.
Attributions
Figure 5.3.1
Redhead [photo] by Hichem Dahmani on Unsplash is used under the Unsplash License (https://unsplash.com/license).
Figure 5.3.2
Griffith’s mice by Mariana Ruiz Villarreal [LadyofHats] for CK-12 Foundation is used under a
CC BY-NC 3.0 (https://creativecommons.org/licenses/by-nc/3.0/) license.
©CK-12 Foundation Licensed under • Terms of Use • Attribution
Figure 5.3.3
DNA_Overview by Michael Ströck [mstroeck] on Wikimedia Commons is used under a CC BY SA 3.0 (http://creativecommons.org/licenses/by-sa/3.0/) license.
References
Brainard, J/ CK-12. (2012). Concentration. In Physical Science [website]. CK12.org. https://www.ck12.org/c/physical-science/concentration/?referrer=crossref
OpenMind. (2017, September 11). The discovery of the structure of DNA. YouTube. https://www.youtube.com/watch?v=V6bKn34nSbk&feature=youtu.be
SciShow. (2013, July 9). Rosalind Franklin: Great minds. YouTube. https://www.youtube.com/watch?v=JiME-W58KpU&feature=youtu.be
Wikipedia contributors. (2020, June 27). Alfred Hershey. In Wikipedia. https://en.wikipedia.org/w/index.php?title=Alfred_Hershey&oldid=964789559
Wikipedia contributors. (2020, June 5). Erwin Chargaff. In Wikipedia. https://en.wikipedia.org/w/index.php?title=Erwin_Chargaff&oldid=960942873
Wikipedia contributors. (2020, June 29). Francis Crick. In Wikipedia. https://en.wikipedia.org/w/index.php?title=Francis_Crick&oldid=965135362
Wikipedia contributors. (2020, July 6). Frederick Griffith. In Wikipedia. https://en.wikipedia.org/w/index.php?title=Frederick_Griffith&oldid=966352134
Wikipedia contributors. (2020, July 5). James Watson. In Wikipedia. https://en.wikipedia.org/w/index.php?title=James_Watson&oldid=966111944
Wikipedia contributors. (2020, March 31). Martha Chase. In Wikipedia. https://en.wikipedia.org/w/index.php?title=Martha_Chase&oldid=948408219
Wikipedia contributors. (2020, July 2). Oswald Avery. In Wikipedia. https://en.wikipedia.org/w/index.php?title=Oswald_Avery&oldid=965632585
Wikipedia contributors. (2020, June 30). Rosalind Franklin. In Wikipedia. https://en.wikipedia.org/w/index.php?title=Rosalind_Franklin&oldid=965334881
Diagram shows examples of the shapes of different types of fatty acids. Saturated fatty acids form long straight chains. Monounsaturated fatty acids have a slight curve and saturated fatty acids can have multiple curves or bends.
Created by CK12/Adapted by Christine Miller
Jasmin discovered that her extreme fatigue, muscle pain, vision problems, and vomiting were due to problems in her mitochondria, like the damaged mitochondria shown in red in Figure 4.14.1. Mitochondria are small, membrane-bound organelles found in eukaryotic cells that provide energy for the cells of the body. They do this by carrying out the final two steps of aerobic cellular respiration: the Krebs cycle and electron transport. This is the major way that the human body breaks down the sugar glucose from food into a form of energy cells can use, namely the molecule ATP.
Because mitochondria provide energy for cells, you can understand why Jasmin was experiencing extreme fatigue, particularly after running. Her damaged mitochondria could not keep up with her need for energy, particularly after intense exercise, which requires a lot of additional energy. What is perhaps not so obvious are the reasons for her other symptoms, such as blurry vision, muscle spasms, and vomiting. All of the cells in the body require energy in order to function properly. Mitochondrial diseases can cause problems in mitochondria in any cell of the body, including muscle cells and cells of the nervous system, which includes the brain and nerves. The nervous system and muscles work together to control vision and digestive system functions, such as vomiting, so when they are not functioning properly, a variety of symptoms can emerge. This also explains why Jasmin’s niece, who has a similar mitochondrial disease, has symptoms related to brain function, such as seizures and learning disabilities. Our cells are microscopic, and mitochondria are even tinier — but they are essential for the proper functioning of our bodies. When they are damaged, serious health effects can occur.
One seemingly confusing aspect of mitochondrial diseases is that the type of symptoms, severity of symptoms, and age of onset can vary wildly between people — even within the same family! In Jasmin’s case, she did not notice symptoms until adulthood, while her niece had more severe symptoms starting at a much younger age. This makes sense when you know more about how mitochondrial diseases work.
Inherited mitochondrial diseases can be due to damage in either the DNA in the nucleus of cells or in the DNA in the mitochondria themselves. Recall that mitochondria are thought to have evolved from prokaryotic organisms that were once free-living, but were then infected or engulfed by larger cells. One of the pieces of evidence that supports this endosymbiotic theory is that mitochondria have their own, separate DNA. When the mitochondrial DNA is damaged (or mutated) it can result in some types of mitochondrial diseases. However, these mutations do not typically affect all of the mitochondria in a cell. During cell division, organelles such as mitochondria are replicated and passed down to the new daughter cells. If some of the mitochondria are damaged, and others are not, the daughter cells can have different amounts of damaged mitochondria. This helps explain the wide range of symptoms in people with mitochondrial diseases — even ones in the same family — because different cells in their bodies are affected in varying degrees. Jasmin’s niece was affected strongly and her symptoms were noticed early, while Jasmin’s symptoms were more mild and did not become apparent until adulthood.
There is still much more that needs to be discovered about the different types of mitochondrial diseases. But by learning about cells, their organelles, how they obtain energy, and how they divide, you should now have a better understanding of the biology behind these diseases.
Apply your understanding of cells to your own life. Can you think of other diseases that affect cellular structures or functions. Do they affect people you know? Since your entire body is made of cells, when cells are damaged or not functioning properly, it can cause a wide variety of health problems.
Chapter 4 Summary
Type your learning objectives here.
In this chapter you learned many facts about cells. Specifically, you learned that:
- Cells are the basic units of structure and function of living things.
- The first cells were observed from cork by Hooke in the 1600s. Soon after, van Leeuwenhoek observed other living cells.
- In the early 1800s, Schwann and Schleiden theorized that cells are the basic building blocks of all living things. Around 1850, Virchow saw cells dividing, and added his own theory that living cells arise only from other living cells. These ideas led to cell theory, which states that all organisms are made of cells, all life functions occur in cells, and all cells come from other cells.
- The invention of the electron microscope in the 1950s allowed scientists to see organelles and other structures inside cells for the first time.
- There is variation in cells, but all cells have a plasma membrane, cytoplasm, ribosomes, and DNA.
-
- The plasma membrane is composed mainly of a bilayer of phospholipid molecules and forms a barrier between the cytoplasm inside the cell and the environment outside the cell. It allows only certain substances to pass in or out of the cell. Some cells have extensions of their plasma membrane with other functions, such as flagella or cilia.
- Cytoplasm is a thick solution that fills a cell and is enclosed by the plasma membrane. It helps give the cell shape, holds organelles, and provides a site for many of the biochemical reactions inside the cell. The liquid part of the cytoplasm is called cytosol.
- Ribosomes are small structures where proteins are made.
- Cells are usually very small, so they have a large enough surface area-to-volume ratio to maintain normal cell processes. Cells with different functions often have different shapes.
- Prokaryotic cells do not have a nucleus. Eukaryotic cells have a nucleus, as well as other organelles. An organelle is a structure within the cytoplasm of a cell that is enclosed within a membrane and performs a specific job.
- The cytoskeleton is a highly organized framework of protein filaments and tubules that criss-cross the cytoplasm of a cell. It gives the cell shape and helps to hold cell structures (such as organelles) in place.
- The nucleus is the largest organelle in a eukaryotic cell. It is considered to be the cell's control center, and it contains DNA and controls gene expression, including which proteins the cell makes.
- The mitochondrion is an organelle that makes energy available to cells. According to the widely accepted endosymbiotic theory, mitochondria evolved from prokaryotic cells that were once free-living organisms that infected or were engulfed by larger prokaryotic cells.
- The endoplasmic reticulum (ER) is an organelle that helps make and transport proteins and lipids. Rough endoplasmic reticulum (RER) is studded with ribosomes. Smooth endoplasmic reticulum (SER) has no ribosomes.
- The Golgi apparatus is a large organelle that processes proteins and prepares them for use both inside and outside the cell. It is also involved in the transport of lipids around the cell.
- Vesicles and vacuoles are sac-like organelles that may be used to store and transport materials in the cell or as chambers for biochemical reactions. Lysosomes and peroxisomes are vesicles that break down foreign matter, dead cells, or poisons.
- Centrioles are organelles located near the nucleus that help organize the chromosomes before cell division so each daughter cell receives the correct number of chromosomes.
- There are two basic ways that substances can cross the cell’s plasma membrane: passive transport (which requires no energy expenditure by the cell) and active transport (which requires energy).
- No energy is needed from the cell for passive transport because it occurs when substances move naturally from an area of higher concentration to an area of lower concentration. Types of passive transport in cells include:
-
- Simple diffusion, which is the movement of a substance due to differences in concentration without any help from other molecules. This is how very small, hydrophobic molecules, such as oxygen and carbon dioxide, enter and leave the cell.
- Osmosis, which is the diffusion of water molecules across the membrane.
- Facilitated diffusion, which is the movement of a substance across a membrane due to differences in concentration, but only with the help of transport proteins in the membrane (such as channel proteins or carrier proteins). This is how large or hydrophilic molecules and charged ions enter and leave the cell.
- Active transport requires energy to move substances across the plasma membrane, often because the substances are moving from an area of lower concentration to an area of higher concentration or because of their large size. Two examples of active transport are the sodium-potassium pump and vesicle transport.
-
- The sodium-potassium pump moves sodium ions out of the cell and potassium ions into the cell, both against a concentration gradient, in order to maintain the proper concentrations of both ions inside and outside the cell and to thereby control membrane potential.
- Vesicle transport uses vesicles to move large molecules into or out of cells.
- Energy is the ability to do work. It is needed by every living cell to carry out life processes.
- The form of energy that living things need is chemical energy, and it comes from food. Food consists of organic molecules that store energy in their chemical bonds.
- Autotrophs (producers) make their own food. Think of plants that make food by photosynthesis. Heterotrophs (consumers) obtain food by eating other organisms.
- Organisms mainly use the molecules glucose and ATP for energy. Glucose is the compact, stable form of energy that is carried in the blood and taken up by cells. ATP contains less energy and is used to power cell processes.
- The flow of energy through living things begins with photosynthesis, which creates glucose. The cells of organisms break down glucose and make ATP.
- Cellular respiration is the aerobic process by which living cells break down glucose molecules, release energy, and form molecules of ATP. Overall, this three-stage process involves glucose and oxygen reacting to form carbon dioxide and water.
-
- Glycolysis, the first stage of cellular respiration, takes place in the cytoplasm. In this step, enzymes split a molecule of glucose into two molecules of pyruvate, which releases energy that is transferred to ATP.
- Transition Reaction takes place between glycolysis and Krebs Cycle. It is a very short reaction in which the pyruvate molecules from glycolysis are converted into Acetyl CoA in order to enter the Krebs Cycle.
- Krebs Cycle, the second stage of cellular respiration, takes place in the matrix of a mitochondrion. During this stage, two turns through the cycle result in all of the carbon atoms from the two pyruvate molecules forming carbon dioxide and the energy from their chemical bonds being stored in a total of 16 energy-carrying molecules (including four from glycolysis).
- The Electron Transport System, he third stage of cellular respiration, takes place on the inner membrane of the mitochondrion. Electrons are transported from molecule to molecule down an electron-transport chain. Some of the energy from the electrons is used to pump hydrogen ions across the membrane, creating an electrochemical gradient that drives the synthesis of many more molecules of ATP.
- In all three stages of aerobic cellular respiration combined, as many as 38 molecules of ATP are produced from just one molecule of glucose.
- Some organisms can produce ATP from glucose by anaerobic respiration, which does not require oxygen. Fermentation is an important type of anaerobic process. There are two types: alcoholic fermentation and lactic acid fermentation. Both start with glycolysis.
-
- Alcoholic fermentation is carried out by single-celled organisms, including yeasts and some bacteria. We use alcoholic fermentation in these organisms to make biofuels, bread, and wine.
- Lactic acid fermentation is undertaken by certain bacteria, including the bacteria in yogurt, and also by our muscle cells when they are worked hard and fast.
- Anaerobic respiration produces far less ATP (typically produces 2 ATP) than does aerobic cellular respiration, but it has the advantage of being much faster.
- The cell cycle is a repeating series of events that includes growth, DNA synthesis, and cell division.
- In a eukaryotic cell, the cell cycle has two major phases: interphase and mitotic phase. During interphase, the cell grows, performs routine life processes, and prepares to divide. During mitotic phase, first the nucleus divides (mitosis) and then the cytoplasm divides (cytokinesis), which produces two daughter cells.
-
- Until a eukaryotic cell divides, its nuclear DNA exists as a grainy material called chromatin. After DNA replicates and the cell is about to divide, the DNA condenses and coils into the X-shaped form of a chromosome. Each chromosome consists of two sister chromatids, which are joined together at a centromere.
- During mitosis, sister chromatids separate from each other and move to opposite poles of the cell. This happens in four phases: prophase, metaphase, anaphase, and telophase.
- The cell cycle is controlled mainly by regulatory proteins that signal the cell to either start or delay the next phase of the cycle at key checkpoints.
- Cancer is a disease that occurs when the cell cycle is no longer regulated, often because the cell's DNA has become damaged. Cancerous cells grow out of control and may form a mass of abnormal cells called a tumor.
In this chapter, you learned about cells and some of their functions, as well as how they pass genetic material in the form of DNA to their daughter cells. In the next chapter, you will learn how DNA is passed down to offspring, which causes traits to be inherited. These traits may be innocuous (such as eye colour) or detrimental (such as mutations that cause disease). The study of how genes are passed down to offspring is called genetics, and as you will learn in the next chapter, this is an interesting topic that is highly relevant to human health.
Chapter 4 Review
- Sequence:
- Drag and Drop:
- True or False:
- Multiple Choice:
- Briefly explain how the energy in the food you eat gets there, and how it provides energy for your neurons in the form necessary to power this process.
- Explain why the inside of the plasma membrane — the side that faces the cytoplasm of the cell — must be hydrophilic.
- Explain the relationships between interphase, mitosis, and cytokinesis.
Attributions
Figure 4.14.1
Mitochondrial Disease muscle sample by Nephron is used under a CC BY-SA 3.0 (https://creativecommons.org/licenses/by-sa/3.0) license.
Figure 4.14.2
Aunt and Niece by Tatiana Rodriguez on Unsplash is used under the Unsplash License (https://unsplash.com/license).
Reference
Wikipedia contributors. (2020, June 6). Mitochondrial disease. In Wikipedia. https://en.wikipedia.org/w/index.php?title=Mitochondrial_disease&oldid=961126371
Created by: CK-12/Adapted by Christine Miller
Case Study: Cancer in the Family
People tend to carry similar traits to their biological parents, as illustrated by the family tree. Beyond just appearance, you can also inherit traits from your parents that you can’t see.
Rebecca becomes very aware of this fact when she visits her new doctor for a physical exam. Her doctor asks several questions about her family medical history, including whether Rebecca has or had relatives with cancer. Rebecca tells her that her grandmother, aunt, and uncle — who have all passed away — had cancer. They all had breast cancer, including her uncle, and her aunt also had ovarian cancer. Her doctor asks how old they were when they were diagnosed with cancer. Rebecca is not sure exactly, but she knows that her grandmother was fairly young at the time, probably in her forties.
Rebecca’s doctor explains that while the vast majority of cancers are not due to inherited factors, a cluster of cancers within a family may indicate that there are mutations in certain genes that increase the risk of getting certain types of cancer, particularly breast and ovarian cancer. Some signs that cancers may be due to these genetic factors are present in Rebecca’s family, such as cancer with an early age of onset (e.g., breast cancer before age 50), breast cancer in men, and breast cancer and ovarian cancer within the same person or family.
Based on her family medical history, Rebecca’s doctor recommends that she see a genetic counselor, because these professionals can help determine whether the high incidence of cancers in her family could be due to inherited mutations in their genes. If so, they can test Rebecca to find out whether she has the particular variations of these genes that would increase her risk of getting cancer.
When Rebecca sees the genetic counselor, he asks how her grandmother, aunt, and uncle with cancer are related to her. She says that these relatives are all on her mother’s side — they are her mother’s mother and siblings. The genetic counselor records this information in the form of a specific type of family tree, called a pedigree, indicating which relatives had which type of cancer, and how they are related to each other and to Rebecca.
He also asks her ethnicity. Rebecca says that her family on both sides are Ashkenazi Jews (Jews whose ancestors came from central and eastern Europe). “But what does that have to do with anything?” she asks. The counselor tells Rebecca that mutations in two tumor-suppressor genes called BRCA1 and BRCA2, located on chromosome 17 and 13, respectively, are particularly prevalent in people of Ashkenazi Jewish descent and greatly increase the risk of getting cancer. About one in 40 Ashkenazi Jewish people have one of these mutations, compared to about one in 800 in the general population. Her ethnicity, along with the types of cancer, age of onset, and the specific relationships between her family members who had cancer, indicate to the counselor that she is a good candidate for genetic testing for the presence of these mutations.
Rebecca says that her 72-year-old mother never had cancer, nor had many other relatives on that side of the family. How could the cancers be genetic? The genetic counselor explains that the mutations in the BRCA1 and BRCA2 genes, while dominant, are not inherited by everyone in a family. Also, even people with mutations in these genes do not necessarily get cancer — the mutations simply increase their risk of getting cancer. For instance, 55 to 65 per cent of women with a harmful mutation in the BRCA1 gene will get breast cancer before age 70, compared to 12 per cent of women in the general population who will get breast cancer sometime over the course of their lives.
Rebecca is not sure she wants to know whether she has a higher risk of cancer. The genetic counselor understands her apprehension, but explains that if she knows that she has harmful mutations in either of these genes, her doctor will screen her for cancer more often and at earlier ages. Therefore, any cancers she may develop are likely to be caught earlier when they are often much more treatable. Rebecca decides to go through with the testing, which involves taking a blood sample, and nervously waits for her results.
Chapter Overview: Genetics
At the end of this chapter, you will find out Rebecca’s test results. By then, you will have learned how traits are inherited from parents to offspring through genes, and how mutations in genes such as BRCA1 and BRCA2 can be passed down and cause disease. Specifically, you will learn about:
- The structure of DNA.
- How DNA replication occurs.
- How DNA was found to be the inherited genetic material.
- How genes and their different alleles are located on chromosomes.
- The 23 pairs of human chromosomes, which include autosomal and sex chromosomes.
- How genes code for proteins using codons made of the sequence of nitrogen bases within RNA and DNA.
- The central dogma of molecular biology, which describes how DNA is transcribed into RNA, and then translated into proteins.
- The structure, functions, and possible evolutionary history of RNA.
- How proteins are synthesized through the transcription of RNA from DNA and the translation of protein from RNA, including how RNA and proteins can be modified, and the roles of the different types of RNA.
- What mutations are, what causes them, different specific types of mutations, and the importance of mutations in evolution and to human health.
- How the expression of genes into proteins is regulated and why problems in this process can cause diseases, such as cancer.
- How Gregor Mendel discovered the laws of inheritance for certain types of traits.
- The science of heredity, known as genetics, and the relationship between genes and traits.
- How gametes, such as eggs and sperm, are produced through meiosis.
- How sexual reproduction works on the cellular level and how it increases genetic variation.
- Simple Mendelian and more complex non-Mendelian inheritance of some human traits.
- Human genetic disorders, such as Down syndrome, hemophilia A, and disorders involving sex chromosomes.
- How biotechnology — which is the use of technology to alter the genetic makeup of organisms — is used in medicine and agriculture, how it works, and some of the ethical issues it may raise.
- The human genome, how it was sequenced, and how it is contributing to discoveries in science and medicine.
As you read this chapter, keep Rebecca’s situation in mind and think about the following questions:
- BCRA1 and BCRA2 are also called Breast cancer type 1 and 2 susceptibility proteins. What do the BRCA1 and BRCA2 genes normally do? How can they cause cancer?
- Are BRCA1 and BRCA2 linked genes? Are they on autosomal or sex chromosomes?
- After learning more about pedigrees, draw the pedigree for cancer in Rebecca’s family. Use the pedigree to help you think about why it is possible that her mother does not have one of the BRCA gene mutations, even if her grandmother, aunt, and uncle did have it.
- Why do you think certain gene mutations are prevalent in certain ethnic groups?
Attributions
Figure 5.1.1
Family Tree [all individual face images] from Clker.com used and adapted by Christine Miller under a CC0 1.0 public domain dedication license (https://creativecommons.org/publicdomain/zero/1.0/).
Figure 5.1.2
Rebecca by Kyle Broad on Unsplash is used under the Unsplash License (https://unsplash.com/license).
References
Wikipedia contributors. (2020, June 27). Ashkenazi Jews. In Wikipedia. https://en.wikipedia.org/w/index.php?title=Ashkenazi_Jews&oldid=964691647
Wikipedia contributors. (2020, June 22). BRCA1. In Wikipedia. https://en.wikipedia.org/w/index.php?title=BRCA1&oldid=963868423
Wikipedia contributors. (2020, May 25). BRCA2. In Wikipedia. https://en.wikipedia.org/w/index.php?title=BRCA2&oldid=958722957
Created by: CK-12/Adapted by Christine Miller
Case Study: Cancer in the Family
People tend to carry similar traits to their biological parents, as illustrated by the family tree. Beyond just appearance, you can also inherit traits from your parents that you can’t see.
Rebecca becomes very aware of this fact when she visits her new doctor for a physical exam. Her doctor asks several questions about her family medical history, including whether Rebecca has or had relatives with cancer. Rebecca tells her that her grandmother, aunt, and uncle — who have all passed away — had cancer. They all had breast cancer, including her uncle, and her aunt also had ovarian cancer. Her doctor asks how old they were when they were diagnosed with cancer. Rebecca is not sure exactly, but she knows that her grandmother was fairly young at the time, probably in her forties.
Rebecca’s doctor explains that while the vast majority of cancers are not due to inherited factors, a cluster of cancers within a family may indicate that there are mutations in certain genes that increase the risk of getting certain types of cancer, particularly breast and ovarian cancer. Some signs that cancers may be due to these genetic factors are present in Rebecca’s family, such as cancer with an early age of onset (e.g., breast cancer before age 50), breast cancer in men, and breast cancer and ovarian cancer within the same person or family.
Based on her family medical history, Rebecca’s doctor recommends that she see a genetic counselor, because these professionals can help determine whether the high incidence of cancers in her family could be due to inherited mutations in their genes. If so, they can test Rebecca to find out whether she has the particular variations of these genes that would increase her risk of getting cancer.
When Rebecca sees the genetic counselor, he asks how her grandmother, aunt, and uncle with cancer are related to her. She says that these relatives are all on her mother’s side — they are her mother’s mother and siblings. The genetic counselor records this information in the form of a specific type of family tree, called a pedigree, indicating which relatives had which type of cancer, and how they are related to each other and to Rebecca.
He also asks her ethnicity. Rebecca says that her family on both sides are Ashkenazi Jews (Jews whose ancestors came from central and eastern Europe). “But what does that have to do with anything?” she asks. The counselor tells Rebecca that mutations in two tumor-suppressor genes called BRCA1 and BRCA2, located on chromosome 17 and 13, respectively, are particularly prevalent in people of Ashkenazi Jewish descent and greatly increase the risk of getting cancer. About one in 40 Ashkenazi Jewish people have one of these mutations, compared to about one in 800 in the general population. Her ethnicity, along with the types of cancer, age of onset, and the specific relationships between her family members who had cancer, indicate to the counselor that she is a good candidate for genetic testing for the presence of these mutations.
Rebecca says that her 72-year-old mother never had cancer, nor had many other relatives on that side of the family. How could the cancers be genetic? The genetic counselor explains that the mutations in the BRCA1 and BRCA2 genes, while dominant, are not inherited by everyone in a family. Also, even people with mutations in these genes do not necessarily get cancer — the mutations simply increase their risk of getting cancer. For instance, 55 to 65 per cent of women with a harmful mutation in the BRCA1 gene will get breast cancer before age 70, compared to 12 per cent of women in the general population who will get breast cancer sometime over the course of their lives.
Rebecca is not sure she wants to know whether she has a higher risk of cancer. The genetic counselor understands her apprehension, but explains that if she knows that she has harmful mutations in either of these genes, her doctor will screen her for cancer more often and at earlier ages. Therefore, any cancers she may develop are likely to be caught earlier when they are often much more treatable. Rebecca decides to go through with the testing, which involves taking a blood sample, and nervously waits for her results.
Chapter Overview: Genetics
At the end of this chapter, you will find out Rebecca’s test results. By then, you will have learned how traits are inherited from parents to offspring through genes, and how mutations in genes such as BRCA1 and BRCA2 can be passed down and cause disease. Specifically, you will learn about:
- The structure of DNA.
- How DNA replication occurs.
- How DNA was found to be the inherited genetic material.
- How genes and their different alleles are located on chromosomes.
- The 23 pairs of human chromosomes, which include autosomal and sex chromosomes.
- How genes code for proteins using codons made of the sequence of nitrogen bases within RNA and DNA.
- The central dogma of molecular biology, which describes how DNA is transcribed into RNA, and then translated into proteins.
- The structure, functions, and possible evolutionary history of RNA.
- How proteins are synthesized through the transcription of RNA from DNA and the translation of protein from RNA, including how RNA and proteins can be modified, and the roles of the different types of RNA.
- What mutations are, what causes them, different specific types of mutations, and the importance of mutations in evolution and to human health.
- How the expression of genes into proteins is regulated and why problems in this process can cause diseases, such as cancer.
- How Gregor Mendel discovered the laws of inheritance for certain types of traits.
- The science of heredity, known as genetics, and the relationship between genes and traits.
- How gametes, such as eggs and sperm, are produced through meiosis.
- How sexual reproduction works on the cellular level and how it increases genetic variation.
- Simple Mendelian and more complex non-Mendelian inheritance of some human traits.
- Human genetic disorders, such as Down syndrome, hemophilia A, and disorders involving sex chromosomes.
- How biotechnology — which is the use of technology to alter the genetic makeup of organisms — is used in medicine and agriculture, how it works, and some of the ethical issues it may raise.
- The human genome, how it was sequenced, and how it is contributing to discoveries in science and medicine.
As you read this chapter, keep Rebecca’s situation in mind and think about the following questions:
- BCRA1 and BCRA2 are also called Breast cancer type 1 and 2 susceptibility proteins. What do the BRCA1 and BRCA2 genes normally do? How can they cause cancer?
- Are BRCA1 and BRCA2 linked genes? Are they on autosomal or sex chromosomes?
- After learning more about pedigrees, draw the pedigree for cancer in Rebecca’s family. Use the pedigree to help you think about why it is possible that her mother does not have one of the BRCA gene mutations, even if her grandmother, aunt, and uncle did have it.
- Why do you think certain gene mutations are prevalent in certain ethnic groups?
Attributions
Figure 5.1.1
Family Tree [all individual face images] from Clker.com used and adapted by Christine Miller under a CC0 1.0 public domain dedication license (https://creativecommons.org/publicdomain/zero/1.0/).
Figure 5.1.2
Rebecca by Kyle Broad on Unsplash is used under the Unsplash License (https://unsplash.com/license).
References
Wikipedia contributors. (2020, June 27). Ashkenazi Jews. In Wikipedia. https://en.wikipedia.org/w/index.php?title=Ashkenazi_Jews&oldid=964691647
Wikipedia contributors. (2020, June 22). BRCA1. In Wikipedia. https://en.wikipedia.org/w/index.php?title=BRCA1&oldid=963868423
Wikipedia contributors. (2020, May 25). BRCA2. In Wikipedia. https://en.wikipedia.org/w/index.php?title=BRCA2&oldid=958722957
Image shows young adult twin females.
List of types of mutagens. Radiation includes UV radiation and X rays. Chemicals include cigarette smoke a vaping vapor, nitrite and nitrate preservatives, barbecuing, and benzoyl peroxide. Infectious agents include HPV and H. Pylori.
A stem cell can become any type of body cell based on gene regulation. Types of cells a stem cell can become include, but are not limited to: Sex cells, muscle cells, fat cells, immune cells, bone cells, epithelial cells, nervous cells, and blood cells.
The strip of hair growing on the ridge above a person's eye socket.
Created by: CK-12/Adapted by Christine Miller
Figure 5.16.1 Potato plants: One genetically engineered and healthy (left), and one infected with bacterial ring rot (right).
Please Pass the Potatoes
You might want to pass on the potato plants on the right in Figure 5.16.1. They are infected with a virus, which is quickly killing them. The potato plants on the left are healthy and productive. Why aren't they infected with the same virus? The plants on the left have been genetically engineered to make them resistant to the virus.
What Is Genetic Engineering?
Genetic engineering is the use of technology to change the genetic makeup of living things for human purposes. Generally, the goal of genetic engineering is to modify organisms so they are more useful to humans. Genetic engineering, for example, may be used to create crops that yield more food or resist insect pests or viruses, such as the virus-resistant potatoes pictured (left) in Figure 5.16.1 . Research is also underway to use genetic engineering to cure human genetic disorders with gene therapy.
Genetic Engineering Methods
Genetic engineering uses a variety of techniques to achieve its aims. Two commonly used techniques are gene cloning and the polymerase chain reaction.
Gene Cloning
Gene cloning is the process of isolating and making copies of a gene. This is useful for many purposes. For example, gene cloning might be used to isolate and make copies of a normal gene for gene therapy. Gene cloning involves four steps: isolation, ligation, transformation, and selection.
- In the isolation step, an enzyme is used to break DNA at a specific base sequence. This is done to isolate a gene.
- During ligation, the enzyme DNA ligase combines the isolated gene with plasmid DNA from bacteria. (Plasmid DNA is circular DNA that is not part of a chromosome and can replicate independently). The DNA that results is called recombinant DNA.
- In transformation, the recombinant DNA is inserted into a living cell, usually a bacterial cell.
- Selection involves growing transformed bacteria to make sure they have the recombinant DNA. This is a necessary step because transformation is not always successful. Only bacteria that contain the recombinant DNA are selected for further use.
Polymerase Chain Reaction
The polymerase chain reaction (PCR) makes many copies of a gene or other DNA segment. This might be done in order to make large quantities of a gene for genetic testing. PCR involves three steps: denaturing, annealing, and extension. The three steps are illustrated in Figure 5.16.2. They are repeated many times in a cycle to make large quantities of the gene.
- Denaturing involves heating DNA to break the bonds holding together the two DNA strands, yielding two single strands of DNA.
- Annealing involves cooling the single strands of DNA and mixing them with short DNA segments called primers. Primers have base sequences that are complementary to segments of the single DNA strands. As a result, bonds form between the DNA strands and primers.
- Extension [or Elongation] occurs when an enzyme (Taq polymerase or Taq DNA polymerase) adds nucleotides to the primers. This produces new DNA molecules, each incorporating one of the original DNA strands.
Uses of Genetic Engineering
Methods of genetic engineering can be used for many practical purposes. They are used widely in both medicine and agriculture.
Applications in Medicine
In addition to gene therapy for genetic disorders, genetic engineering can be used to transform bacteria so they are able to make human proteins (see Figure 5.16.3). Proteins made by the bacteria are injected into people who cannot produce them because of mutations.
Insulin was the first human protein to be produced in this way. Insulin helps cells take up glucose from the blood. People with type 1 diabetes have a mutation in the gene that normally codes for insulin. Without insulin, their blood glucose rises to harmfully high levels. At present, the only treatment for type 1 diabetes is the injection of insulin from outside sources. Until recently, there was no known way to make human insulin outside the human body. The problem was solved by gene cloning. The human insulin gene was cloned and used to transform bacterial cells, which could then produce large quantities of human insulin.
Applications in Agriculture
Genetic engineering has been used to create transgenic crops. Transgenic crops are genetically modified with new genes that code for traits useful to humans.
Transgenic crops have been created with a variety of different traits. They can yield more food, taste better, survive drought, tolerate salty soil, and resist insect pests, among other things. Scientists have even created a transgenic purple tomato (Figure 5.16.4) that contains high levels of cancer-fighting compounds called antioxidants.
Ethical, Legal, and Social Issues
The use of genetic engineering has raised a number of ethical, legal, and social issues. Here are just a few:
- Who owns genetically modified organisms (such as bacteria)? Can such organisms be patented like inventions?
- Are genetically modified foods safe to eat? Might they have harmful effects on the people who consume them?
- Are genetically engineered crops safe for the environment? Might they harm other organisms — or even entire ecosystems?
- Who controls a person’s genetic information? What safeguards ensure that the information is kept private?
- How far should we go to ensure that children are free of mutations?
This example shows how complex such issues may be:
A strain of corn has been created with a gene that encodes a natural pesticide. On the positive side, the transgenic corn is not eaten by insects, so there is more corn for people to eat. The corn also doesn’t need to be sprayed with chemical pesticides, which can harm people and other living things. On the negative side, the transgenic corn has been shown to cross-pollinate nearby milkweed plants. Offspring of the cross-pollinated milkweed plants are now known to be toxic to monarch butterfly caterpillars that depend on them for food. Scientists are concerned that this may threaten the monarch species, as well as other species that normally eat monarchs.
As this example shows, the pros of genetic engineering may be obvious, but the cons may not be known until it is too late, and the damage has already been done. Unforeseen harm may be done to people, other species, and entire ecosystems. No doubt the ethical, legal, and social issues raised by genetic engineering will be debated for decades to come.
Feature: Reliable Sources
Genetically modified foods (or GM foods) are foods produced from genetically modified organisms. These are organisms that have had changes introduced into their DNA using methods of genetic engineering. Commercial sale of GM foods began in 1994, with a tomato that had delayed ripening. By 2015, three major crops grown in the U.S. were raised mainly from GM seeds, including field corn, soybeans, and cotton. Many other crops were also raised from GM seeds, ranging from a variety of vegetables to sugar beets. Other sources of GM foods in our diet include meats, eggs, and dairy products from animals that have eaten GM feed, as well as a plethora of food products that contain some form of soy or corn products, such as soybean oil, soybean flour, corn oil, corn starch, and corn syrup. A quick glance at the ingredients list of most processed foods shows that these products are added to many of the items in a typical American diet.
Most scientists think that GM foods are not necessarily any riskier to human health than conventional foods. Nonetheless, in many countries, including the U.S., GM foods are given more rigorous evaluations than conventional foods. For example, GM foods are assessed for toxicity, ability to cause allergic reactions, and stability of inserted genes. GM crops are also evaluated for possible environmental effects, such as outcrossing, which is the migration of genes from GM plants to conventional crops or wild plant species.
Despite the extra measures used to evaluate GM foods, there is a lot of public concern about them, including whether they are safe for human health, how they are labeled, and their environmental impacts. These concerns are based on a number of factors, such as the worrying belief that scientists are creating entirely new species, and a perceived lack of benefits to the consumer of GM foods. People may also doubt the validity of risk assessments, especially with regard to long-term effects. Lack of labeling of GM foods is also an issue because it denies consumers the choice of buying GM or conventional foods.
Find reliable online sources about GM foods. Look for information to answer the questions below. Make sure you evaluate the nature of the sources when you assess the reliability of the information they provide. Consider whether the sources may have a vested interest in one side of the issue or another. For example, major chemical companies might promote the use of seeds for crops that have been genetically engineered to be herbicide tolerant. Why? Because it boosts the use of the weed-killing chemical herbicides they produce and sell.
- In what ways are crops modified genetically? What traits are introduced, and what methods are used to introduce them?
- What are the main human safety questions about GM foods? How is the human safety of GM foods assessed?
- What are the main environmental concerns about GM crops? How is risk assessment for the environment performed?
- What are the major pros and cons of GM crops and foods? Who is most affected by these pros and cons? For example, for pros, do growers and marketeers receive most of the benefits, or do consumers also reap rewards?
5.16 Summary
- Genetic engineering is the use of technology to change the genetic makeup of living things for human purposes.
- Genetic engineering methods include gene cloning and the polymerase chain reaction. Gene cloning is the process of isolating and making copies of a DNA segment, such as a gene. The polymerase chain reaction makes many copies of a gene or other DNA segment.
- Genetic engineering can be used to transform bacteria so they are able to make human proteins, such as insulin. It can also be used to create transgenic crops, like crops that yield more food or resist insect pests.
- Genetic engineering has raised a number of ethical, legal, and social issues. For example, are genetically modified foods safe to eat? Who controls a person’s genetic information?
5.16 Review Questions
- Define genetic engineering
-
- What is recombinant DNA?
- Identify the steps of gene cloning.
- What is the purpose of the polymerase chain reaction?
- Make a flow chart outlining the steps involved in creating a transgenic crop.
- Explain how bacteria can be genetically engineered to produce a human protein.
- Identify an ethical, legal, or social issue raised bygenetic engineering. State your view on the issue, and develop a logical argument to support your view.
- Explain what primers are and what they do in PCR.
- The enzyme Taq polymerase was originally identified from bacteria that live in very hot environments, such as hotsprings. Why does this fact make Taq polymerase particularly useful in PCR reactions?
5.16 Explore More
https://www.youtube.com/watch?time_continue=1&v=3IsQ92KiBwM&feature=emb_logo
What is Genetic Engineering?, Eco-Wise Videos, 2015.
https://www.youtube.com/watch?time_continue=1&v=g_ZswrLFSdo&feature=emb_logo
Bringing biotechnology into the home: Cathal Garvey at TEDxDublin,
TEDx Talks, 2013.
Attributions
Figure 5.16.1
- Potato Plant by Lehava Maghar (Pikiwikisrael) on Wikimedia Commons via the PikiWiki - Israel free image collection project is used under a CC BY 2.5 (https://creativecommons.org/licenses/by/2.5/) license.
- Potato Plant Infected with Bacterial Ring Rot by William M. Brown Jr. on Wikimedia Commons via William M. Brown Jr., Bugwood.org via forestryimages.org is used under a CC BY 3.0 US (https://creativecommons.org/licenses/by/3.0/us/deed.en) license.
Figure 5.16.2
Polymerase_chain_reaction.svg by Enzoklop on Wikimedia Commons is used under a
CC BY-SA 3.0 (https://creativecommons.org/licenses/by-sa/3.0/deed.en) license.
Figure 5.16.3
Genetic Engineering in Medicine by CK-12 Foundation is used under a CC BY-NC 3.0 (https://creativecommons.org/licenses/by-nc/3.0/) license.
©CK-12 Foundation Licensed under • Terms of Use • Attribution
Figure 5.16.4
Purple Tomato/Indigo Rose by F Delventhal on Flickr is used under a CC BY 2.0 (https://creativecommons.org/licenses/by/2.0/) license.
Figure 5.16.5
Monarch_Butterfly_and_Bumble_Bee_on_Swamp_Milkweed_(28960994212) by U.S. Fish and Wildlife Service on Wikimedia Commons is in the public domain (https://en.wikipedia.org/wiki/Public_domain).
References
Brainard, J/ CK-12 Foundation. (2016). Figure 4 Genetically engineering bacteria to produce a human protein. [digital image]. In CK-12 College Human Biology (Section 5.15) [online Flexbook]. CK12.org. https://www.ck12.org/book/ck-12-college-human-biology/section/5.15/
Eco-Wise Videos. (2015, March 28). What is genetic engineering? YouTube. https://www.youtube.com/watch?v=3IsQ92KiBwM&feature=youtu.be
TEDx Talks. (2013, October 22). Bringing biotechnology into the home: Cathal Garvey at TEDxDublin. YouTube. https://www.youtube.com/watch?v=g_ZswrLFSdo&feature=youtu.be
The rounded head (or tip) of the penis.
6.2 Genetic Variation: Review Questions and Answers
- Compare and contrast the significance of genetic variation at the individual and population levels. At the individual level, most human genetic variation is not very important biologically because it has no apparent adaptive significance. It neither enhances nor detracts from individual fitness. At the population level, genetic variation is crucial for evolution to occur. Genetically-based differences in fitness among individuals are the key to evolution by natural selection.
- Describe genetic variation within and between human populations on different continents. Any two randomly selected individuals differ in only about 0.1 per cent of their DNA base pairs. Of this genetic variation, about 90 per cent occurs between individuals within continental populations, and only about 10 per cent occurs between individuals from different continents.
- Explain why allele frequencies for the Duffy gene may be used as a genetic marker for African ancestry. Allele frequencies for the Duffy gene differ greatly between African (and African-derived) populations and other human populations. The allele for no Duffy antigen is very high in African populations (and relatively high in African Americans) but virtually absent from non-African populations. Therefore, allele frequencies for this gene may be used as a genetic marker for African ancestry.
- Identify factors that increase the level of genetic variation within populations. Factors that tend to increase genetic variation within a population include its age and size. You would expect an older, larger population to have more genetic variation. The older a population is, the longer it has been accumulating mutations. The larger a population is, the more people there are in which mutations can occur.
- Self-marking
- Discuss genetic evidence that supports the out-of-Africa hypothesis of modern human origins. Most studies of human genetic variation find greater genetic diversity in African than in non-African populations. This is consistent with the older age of the African population proposed by the out-of-Africa hypothesis. In addition, most of the genetic variation in non-African populations is a subset of the variation in African populations. This is consistent with the idea that part of the African population left Africa and migrated to other places in the Old World.
- What evidence suggests that modern humans interbred with archaic human populations after modern humans left Africa? Recent comparisons of modern human and archaic human DNA show that interbreeding occurred between their populations to differing degrees. The comparisons reveal greater admixture with archaic humans in modern European, Asian, and Oceanic populations than in modern African populations. Populations with the greatest admixture are those in Melanesia. About eight per cent of their DNA came from archaic Denisovans in East Asia.
- How do population size reductions and gene flow impact the genetic variation of populations?
- Describe the role of genetic variation in human disease. Going through a dramatic reduction in size reduces a population's genetic variation. A high rate of migration between populations may lead to gene flow, which decreases inter-population and increases intra-population variation. Gene flow primarily between nearby populations may contribute to the formation of clines in allele frequencies.
- Explain the reasons why variation in a DNA sequence can have no effect on the fitness of an individual. Variation in a DNA sequence can have no effect on fitness for a number of reasons. First, the variation may not occur in a coding or regulatory region of DNA, and therefore would not affect phenotype. Even if it did occur in a coding region of DNA, it may not affect phenotype because it might not change the amino acid sequence of the encoded protein or it might not affect how the protein functions even if it does change the amino acid sequence. If a genetic variation does not affect the phenotype, it cannot affect fitness. Finally, even if it does affect the phenotype, it does not necessarily mean that it affects fitness — i.e., it could be a neutral phenotypic change.
- Explain why migration between populations decreases inter-population genetic variation. How does this relate to the development of clines in allele frequency? Migration between populations decreases inter-population (between population) genetic variation because when individuals move between populations, their different alleles are included in the gene pool of the population that they move to. Interbreeding will often also occur between individuals who were originally from different populations. For these reasons, there will be fewer genetic differences between these populations if individuals are moving between them. Migration relates to the development of clines (i.e. gradual differences) in allele frequency because it causes gene flow between adjacent populations. If there was no gene flow, you would expect to see discrete areas of more significant differences in allele frequency.
- The amount of mixing of modern human DNA and archaic human DNA is an example of admixture.
6.3 Classifying Human Variation: Review Questions and Answers
- Name the 18th century taxonomist that classified virtually all known living things. Carl Linnaeus
- Describe the typological approach to classifying human variation. The typological approach to classifying human variation involves creating a typology, which is a system of discrete types, or categories, such as races. People are sorted into these categories based on a few readily observable phenotypic traits, such as skin colour, hair texture, facial features, and body build.
- Discuss why typological classifications of Homo sapiens are associated with racism. Typological classifications of Homo sapiens are associated with racism because unrelated and often negative traits are attributed to certain racial categories. This may lead to prejudice and discrimination against people based only on how they look. Race and racism are deeply ingrained in our history and culture.
- Why is the breeding population considered to be the most meaningful biological group? The breeding population is considered to be the most meaningful biological group because it is the unit of evolution. It includes people who have mated and produced offspring together for many generations. As a result members of the same breeding population should share many genetic traits.
- Explain why it is generally unrealistic to apply a populational approach to classifying the human species. It is generally unrealistic to apply a populational approach to classifying the human species because most human populations are not closed breeding populations. There has been and continues to be too much gene flow between populations.
- What does a clinal map show? A clinal map shows the geographic distribution of a trait or allele frequency.
- Explain how gene flow and natural selection can result in a gradual change in the frequency of a trait over geographic space. Gene flow tends to vary with distance between populations. Closer populations are likely to exchange genes more often than populations that are farther apart. Such differences in gene flow could produce a gradual change in the frequency of a trait over geographic space. An environmental stressor may vary gradually over space, creating a geographic continuum of selective pressure. Variation in selective pressure may produce corresponding variation in a trait over space.
- Most human traits vary on a continuum. Explain why this presents a problem for the typological classification approach. Since most human traits vary on a continuum, it is difficult to create a sharp dividing line between categories of people, as is done in the typological classification approach.
- Self-marking
6.4 Human Responses to Environmental Stress: Review Questions and Answers
- List four different types of responses that humans may make to cope with environmental stress. Four different types of responses that humans may make to cope with environmental stress are adaptation, developmental adjustment, acclimatization, and cultural responses.
- Define adaptation. An adaptation is a genetically based trait that has evolved by natural selection because it helps living things survive and reproduce in a given environment.
- Self-marking
- Explain how natural selection may have resulted in most human populations having people who can and people who cannot taste PTC. PTC is an artificial, harmless, bitter-tasting compound similar to toxic bitter compounds found in plants. The ability to taste PTC may have been selected for because it helped people identify bitter-tasting toxic plants so they could avoid eating them. Nontasters are hypothesized to be able to taste a different, yet-to-be-identified bitter compound. The gene for PTC tasting has two alleles, T for tasting PTC and t for nontasting PTC (or for tasting some other bitter compound). People who have both alleles (Tt) should be able to taste the widest range of bitter compounds, so they would be the most fit and favored by natural selection. This would result in both alleles, as well as both taster and nontaster phenotypes, being maintained in populations.
- What is a developmental adjustment? A developmental adjustment is a type of nongenetic response to environmental stress. It consists of a phenotypic change that occurs during development in infancy or childhood and that may persist into adulthood. This type of change may be irreversible.
- Define phenotypic plasticity. Phenotypic plasticity is the ability to change the phenotype in response to changes in the environment, allowing individuals to respond to changes that occur during their lifetime.
- Explain why phenotypic plasticity may be particularly important in a species with a long generation time. Phenotypic plasticity may be particularly important in a species with a long generation time because in such species the evolution of genetic adaptations may occur too slowly to keep up with changing environmental stresses.
- Why may stunting of growth occur in children who have an inadequate diet? Why is stunting preferable to the alternative? Stunting of growth may occur in children who have an inadequate diet because they do not take in enough nutrients and calories to fuel both growth and basic metabolic processes. The nutrients and calories are shunted away from growth and toward maintaining life, allowing children to survive at the expense of increased body size. The alternative would be to use nutrients and calories for growth at the expense of life processes, which could possibly result in death.
- What is acclimatization? Acclimatization is the development of reversible changes to environmental stress that generally occur over a relatively short period of time. When the stress is no longer present, the acclimatized state declines, and the body returns to its normal baseline state.
- How does acclimatization to heat come about, and what are two physiological changes that occur in heat acclimatization? Acclimatization to heat occurs when one gradually works out harder and longer at high temperatures. It may take up to two weeks to attain maximum heat acclimatization. Two physiological changes that occur in heat acclimatization are increased sweat output and earlier onset of sweat production. These changes help the body lose heat through the evaporation of sweat, which is called evaporative cooling.
- Give an example of a cultural response to heat stress. An example of a cultural response to heat stress is the use of air conditioning to maintain a cool environment.
- Which is more likely to be reversible — a change due to acclimatization, or a change due to developmental adjustment? Explain your answer. A change due to acclimatization is more likely to be reversible than a change due to developmental adjustment. This is because in acclimatization, the phenotype reverts back to the baseline state once the stressor is gone. In developmental adjustment, the changes that occur during development may or may not be permanent, depending on the circumstances.
6.5 Variation in Blood Types: Review Questions and Answers
- Define blood type and blood group system. Blood type is a genetic characteristic associated with the presence or absence of antigens on the surface of the red blood cell. Blood group system refers to all of the genes, alleles, and possible genotypes and phenotypes that exist for a particular set of blood type antigens.
- Explain the relationship between antigens and antibodies. Antigens are molecules that the immune system identifies as either self or nonself. If antigens are identified as nonself, the immune system responds by forming antibodies that are specific to the nonself antigens. Antibodies are large, Y-shaped proteins produced by the immune system that recognize and bind to nonself antigens. They fit together like a lock and key. When antibodies bind to antigens, it marks them for destruction by other immune system cells.
- Identify the alleles, genotypes, and phenotypes in the ABO blood group system. The ABO blood group system is controlled by one gene with three common alleles, represented by A, B, and O. There are six possible genotypes with three alleles: AA, AB, BB, BO, AO, and OO. Because A and B are codominant and both are dominant to O, there are four possible phenotypes: type A (AA, AO), type B (BB, BO), type AB (AB), and type O (OO).
- Discuss the medical significance of the ABO blood group system. The ABO blood group system is the most important blood group system in blood transfusions. If red blood cells containing a particular ABO antigen are transfused into a person who lacks that antigen, the person’s immune system will recognize the antigen on the red blood cells as nonself and attack them, causing agglutination.
- Compare the relative worldwide frequencies of the three ABO alleles. The ABO allele for antigen B is the least common worldwide. The allele for antigen A is more common than the allele for antigen B but less common than the allele for antigen O, which is the most common ABO allele.
- Give examples of how different ABO blood types vary in their susceptibility to diseases. Answers may vary. Sample answer: People with type O blood may be more susceptible to cholera, plague, and gastrointestinal ulcers; but they may be less susceptible to malaria. People with type A blood may be more susceptible to smallpox and certain cancers.
- Describe the Rhesus blood group system. The Rhesus blood group system is controlled by two linked genes with many alleles on chromosome 1. There are five main Rhesus antigens: D, C, c, E, and e. The major antigen is D, which is either present (Rh+) or absent (Rh-).
- Relate Rhesus blood groups to blood transfusions. People with Rh+ blood can safely receive a blood transfusion of Rh+ or Rh- blood. People with Rh- blood can safely receive a blood transfusion only of Rh- blood.
- What causes hemolytic disease of the newborn? Hemolytic disease of the newborn is caused by an Rh- mother producing antibodies to the D antigen in the blood of an Rh+ fetus. The maternal antibodies may destroy fetal red blood cells, causing anemia.
- Describe how toxoplasmosis may explain the persistence of the Rh- blood type in human populations. Toxoplasmosis is a common parasitic disease that may have lasting neurological effects such as delayed reaction times, which can lead to an increase in traffic accidents and possibly other accidental injuries. People who are heterozygous for the Rhesus D antigen appear to be less likely to develop these lasting neurological effects, so they might be selected for by natural selection. If so, this could explain why both Rh+ and Rh- phenotypes persist in human populations.
- A woman is blood type O and Rh-, and her husband is blood type AB and Rh+. Answer the following questions about this couple and their offspring.
- What are the possible genotypes of their offspring in terms of ABO blood group? AO or BO
- What are the possible phenotypes of their offspring in terms of ABO blood group? A or B
- Can the woman donate blood to her husband? Explain your answer. Yes, because O is the universal donor since it has no A or B antigens, and in any case, AB is the universal recipient since it has both antigens. Also, since she is Rh-, she can donate to an Rh+ person.
- Can the man donate blood to his wife? Explain your answer. No, because he is AB which contains the antigens for both A and B, and since she is type O she has antibodies against A and B. Also, because he is Rh+ and she is Rh-, her body will create antibodies against his D antigen as well.
- Type O blood is characterized by the presence of O antigens — explain why this statement is false. This statement is false because the O allele actually codes for the absence of an antigen, which means there is no "O" allele, just the absence of an antigen.
- Explain why newborn hemolytic disease may be more likely to occur in a second pregnancy than in a first Hemolytic disease of the newborn may be more likely to occur in a second pregnancy than in a first, because the generation of anti-D antibodies usually requires exposure to Rh+ blood in an Rh- person. This exposure may happen during an Rh- mother’s first birth to an Rh+ baby, and then in a subsequent pregnancy, the fetus is at risk of HDN because the anti-D antibodies are already present.
6.6 Human Responses to High Altitude: Review Questions and Answers
- Define hypoxia. Hypoxia is a lack of oxygen.
- Why does hypoxia occur at high altitudes? Hypoxia occurs at high altitudes because the atmosphere is less dense at high altitudes, so there is less oxygen in each breath and lower air pressure to move air from the lungs across cell membranes into the blood.
- Describe the body’s immediate response to hypoxia at high altitude. The body’s immediate response to hypoxia at high altitude is an increase in the rate of breathing (hyperventilation) and elevation of the heart rate.
- Self-marking
- What is high altitude sickness, and what are its symptoms? High altitude sickness is a collection of symptoms that occur in response to the hypoxia at high altitude in a person who is not acclimated or adapted to this stress. It includes symptoms such as fatigue, shortness of breath, loss of appetite, headache, dizziness, and vomiting.
- What changes occur during acclimatization to high altitude? During acclimatization to high altitude, additional red blood cells are produced, capillaries become more numerous in muscle tissues, the lungs increase slightly in size, and there is a small increase in the size of the right ventricle of the heart, which is the heart chamber that pumps blood to the lungs.
- Where would you expect to find populations with genetic adaptations to high altitude? You would expect to find populations with genetic adaptations to high altitude in high altitude areas above 2,500 metres where people have been living continuously for thousands of years, including the Andes Mountains, Himalaya Mountains, Tibetan Plateau, and Ethiopian Highlands.
- Discuss variation in adaptations to high altitude in different high altitude regions. Different high altitude populations have evolved different adaptations to the same hypoxic stress. Tibetan highlanders, for example, have a faster rate of breathing and large arteries, whereas Peruvian highlanders have larger red blood cells and a greater concentration of the oxygen-carrying protein hemoglobin.
- Why do you think that adaptations to living at high altitude are different in different regions of the world?
- Using human responses to high altitude as an example, explain the difference between acclimatization and adaptation.
- Why are most humans not well-adapted to living at high altitudes?
- If a person that normally lives at sea level wants to climb a very high mountain, do you think it is better for them to move to higher elevations gradually or more rapidly? Explain your answer.
6.7 Human Responses to Extreme Climates: Review Questions and Answers
- Compare and contrast hypothermia and hyperthermia. Both hypothermia and hyperthermia are dangerous responses to temperature extremes. Hypothermia is a decrease in core body temperature that occurs in the cold. Hyperthermia is an in increase in core body temperature that occurs in the heat.
- State Bergmann’s and Allen’s rules. Bergmann’s rule states that populations or species have larger body size in colder climates, and vice versa. Allen’s rule states that populations or species have longer extremities in warmer environments, and vice versa.
- How do the Maasai and Inuit match the predictions based on Bergmann’s and Allen’s rules? The Maasai, who live in the tropics, have long, linear bodies with very long legs, so they have a heat-adapted body build as predicted by Bergmann’s and Allen’s rules. The Inuit, who live in the Arctic, have stocky bodies with relatively short limbs, so they have a cold-adapted body build as predicted by Bergmann’s and Allen’s rules.
- Explain how sweating cools the body. Sweating coats the skin with moisture. When the moisture evaporates, it requires heat. The heat comes from the surface of the body, which cools the body.
- What is the heat index? The heat index is a number that combines air temperature and relative humidity to indicate how hot the air feels due to the humidity.
- Relate the heat index to evaporative cooling of the body. When the heat index is high for a given air temperature, it means that the relative humidity is high. With high humidity, sweat will not evaporate readily from the body, and evaporative cooling will not be very effective.
- Identify three heat-related illnesses, from least to most serious. Three heat-related illnesses from least to most serious are heat cramps, heat exhaustion, and heat stroke.
- How does heat acclimatization occur? Heat acclimatization occurs by gradually increasing the duration and intensity of working out at high temperatures. Maximum acclimatization may take up to 14 days. Changes that occur with acclimatization include greater sweat production, decreased salt concentration in sweat, earlier onset of sweating, and vasodilation near the skin so blood can bring heat to the surface of the body from the body core.
- State two major ways the human body can respond to the cold, and give an example of each. Two major ways the body can respond to cold are by generating more heat (for example, by shivering) and by conserving more body heat (for example, by vasoconstriction).
- Explain how and why the hunting response occurs. The hunting response occurs as a response to cold. It involves alternating vasoconstriction and vasodilation in the extremities. This helps conserve body heat while preventing cold injury to the extremities.
- Define basal metabolic rate. Basal metabolic rate is the amount of energy a person needs to keep the body functioning at rest.
- How does a high-fat diet help prevent hypothermia? A high fat diet helps prevent hypothermia by increasing the basal metabolic rate so the body generates more heat.
- Explain why frostbite most commonly occurs in the extremities, such as the fingers and toes. Frostbite most commonly occurs in the extremities, such as the fingers and toes, because one of the body’s responses to cold is vasoconstriction, which moves blood away from the extremities to protect the internal organs in the body’s core. This leaves the extremities more vulnerable to cold and frostbite.
6.8 Nutritional Adaptation: Review Questions and Answers
- Self-marking
- Distinguish between the terms lactose and lactase. Lactose is a disaccharide found in milk. Lactase is an enzyme that is needed to digest lactose by breaking it down into its two component sugars.
- What is lactose intolerance, and what percentage of all people have it? Lactose intolerance is the inability to synthesize lactase and digest lactose after early childhood, leading to symptoms such as bloating and diarrhea if milk is consumed. Lactose intolerance occurs in about 60 per cent of all people.
- Where and why did lactase persistence evolve? Lactase persistence evolved in populations that herded milking animals for thousands of years. People who were able to synthesize lactase and digest lactose throughout life were strongly favored by natural selection.
- What is the thrifty gene hypothesis? The thrifty gene hypothesis posits that “thrifty genes” were selected for because they allowed people to use calories efficiently and store body fat when food was plentiful so they had a reserve to use when food was scarce. Thrifty genes become detrimental and lead to obesity and diabetes when food is plentiful all of the time.
- How well is the thrifty gene hypothesis supported by evidence? Several assumptions underlying the thrifty gene hypothesis have been called into question, and genetic research has been unable to actually identify thrifty genes.
- Describe an alternative hypothesis to the thrifty gene hypothesis. Several alternative hypotheses to the thrifty gene hypothesis have been proposed, so answers may vary. Sample answer: The drifty gene hypothesis explains variation in the tendency to become obese and develop diabetes by genetic drift on neutral genes.
- Do you think that a lack of exposure to dairy products might affect a person’s lactase level? Why or why not? Answers may vary. Sample answer: I think that a lack of exposure to dairy products might affect a person’s lactase level, because production of lactase may not just depend on genes—it also may depend on exposure to lactose.
- Describe an experiment you would want to do or data you would want to analyze that would help to test the thrifty phenotype hypothesis. Remember, you are studying people, so be sure it is ethical! Discuss possible confounding factors that you should control for, or that might affect the interpretation of your results. Answers will vary. Sample answer: To test the thrifty phenotype hypothesis, I would examine data on the rates of type II diabetes in adulthood for people whose mother was pregnant with them during times and regions of famine. Times of famine might have additional factors, such as types of food available, extreme maternal stress, or other environmental conditions that could also affect the development of diabetes, other than overall lack of food. Also, you may not be able to determine whether an individual’s mother personally experienced famine, or to what extent. It may be completely unknown or you may need to rely on self-reporting of events that happened many years ago.
- Explain the relationship between insulin, blood glucose, and type II diabetes. Diabetes is a disease that occurs when there are problems with the pancreatic hormone insulin, which normally helps cells take up glucose from the blood and controls blood glucose levels. In type II diabetes, body cells become relatively resistant to insulin, leading to high blood glucose.
Chapter 6 Case Study Conclusion: Review Questions and Answers
- Explain why an evolutionarily older population is likely to have more genetic variation than a similarly-sized younger population. The older a population is, the longer it has been accumulating mutations, so therefore an older population is likely to have more genetic variation than a similarly-sized younger population.
- The genetic difference between any two people on Earth is only about 0.1 per cent. Based on our evolutionary history, describe one reason why humans are relatively homogeneous genetically. Answers may vary, but can include: modern humans’ relatively recent evolution (less than a quarter million years ago), which is a relatively short period of time for mutations to accumulate; the relatively small human population size (possibly around 10,000 adults) in the past, which also limited genetic variability.
- What aspect(s) of human skin colour are due to adaptation? Be sure to define adaptation in your answer. What aspect(s) of human skin colour are due to acclimatization? Be sure to define acclimatization in your answer. Adaptation is a genetic change that occurs through natural selection. Adaptations that influence skin colour in humans include the type and amount of melanin produced by the skin. Acclimatization is a temporary physiological change in response to environmental stress. The ability of the skin to become darker, or tan, when exposed to UV radiation is a type of acclimatization that influences skin colour.
- For each of the following human responses to the environment, list whether it can be best described as an example of adaptation, acclimatization, or developmental adjustment:
- Reduction in height due to lack of food in childhood Developmental adjustment.
- Resistance to malaria Adaptation.
- Shivering in the cold Acclimatization.
- Changes in body size and dimensions to better tolerate heat or cold Adaptation.
- Give an example of a human response to environmental stress that involves changes in behavior, instead of changes in physiology. Answers will vary but may include: the creation of shelters, clothing, and technology such as air conditioning.
- What are two types of environmental stresses that caused genetic changes related to hemoglobin in some populations of humans? Malaria and high altitude
- The ability of an organism to change their phenotype in response to the environment is called phenotypic plasticity.
- List three natural selection pressures that differ geographically across the world and contributed to the evolution of human genetic variation in different regions. Answers may vary. Sample answer: Altitude; climate; UV levels; presence of endemic malaria.
- You may have noticed that when a sudden hot day occurs during a cool period, it can feel even more uncomfortable than higher temperatures during a hot period — even with the same humidity levels. Using what you learned in this chapter, explain why you think that happens. Answers may vary. Sample answer: I think that a sudden hot day during a cool period feels particularly uncomfortable because your body has not yet acclimated to the heat. Full heat acclimatization can take weeks. During longer periods of heat, your body acclimatizes physiologically to cool you more effectively.
- Out of all mammals, why are humans the only ones that evolved lactase persistence? Humans are the only mammals that evolved lactase persistence, because humans are the only mammals to consume milk in adulthood, due to our domestication of other species for food. It is energetically costly to produce an enzyme that is not needed, so that is probably why other mammals stop making it after the weaning period.
- If the Inuit people who live in the Arctic were not able to get enough vitamin D from their diet, what do you think might happen to their skin colour over a long period of time? Explain your answer. Answers may vary. Sample answer: I think that if the Inuit people were not able to get enough vitamin D from their diet, over a long period of time their skin colour may become lighter. This is because vitamin D, which is important for health, can be synthesized by the skin from UV light exposure. UV light penetrates lighter skin better than darker skin, so people with lighter skin will produce vitamin D more easily. In the absence of sufficient vitamin D in the diet in the Arctic where UV levels are low, people with lighter skin may have an evolutionary advantage due to better health. Over a long period of time, that may lead to the population as a whole having lighter skin.
- Explain why malaria has been such a strong force of natural selection on human populations. Answers may vary. Sample answer: Malaria has been such a strong force of natural selection on human populations for several reasons. First, it is widespread in areas consistently inhabited by large numbers of humans, particularly after the advent of agriculture, because of the nature of malaria life cycle. Second, malaria has been around for a long period of human history, and natural selection causes evolutionary changes only over many generations. Third, malaria is often deadly, particularly to young children and infants, and can cause miscarriages and stillbirths. Because it affects the reproductive rate in this manner, malaria is a strong force of natural selection, dramatically reducing the fitness of individuals that are susceptible to it.
- Give one example of “heterozygote advantage” (i.e. when the heterozygous genotype has higher relative fitness than the dominant or recessive homozygous genotype) in humans. Answers will vary but may include: hemoglobin adaptations in response to malaria; the Rhesus D antigen; the taster/nontaster alleles.
- What is one way in which humans have evolved genetic adaptations in response to their food sources? Answers will vary but may include: lactose persistence; taster genes; the ability to survive on lower amounts of food.
- Do you think adaptation to high altitude evolved once or several times? Explain your reasoning. Answers may vary. Sample answer: Adaptations to high altitude probably evolved independently several times because the specific adaptations are different in different regions. If it had evolved once, you would expect the adaptation to be the same in different populations.
Created by: CK-12/Adapted by Christine Miller
Divide and Split
Can you guess what the colourful image in Figure 4.13.1 represents? It shows a eukaryotic cell during the process of cell division. In particular, the image shows the cell in a part of cell division called anaphase, where the DNA is being pulled to opposite ends of the cell. Normally, DNA is located in the nucleus of most human cells. The nucleus divides before the cell itself splits in two, and before the nucleus divides, the cell’s DNA is replicated (or copied). There must be two copies of the DNA so that each daughter cell will have a complete copy of the genetic material from the parent cell. How is the replicated DNA sorted and separated so that each daughter cell gets a complete set of the genetic material? To answer that question, you first need to know more about DNA and the forms it takes.
The Forms of DNA
Except when a eukaryotic cell divides, its nuclear DNA exists as a grainy material called chromatin. Only once a cell is about to divide and its DNA has replicated does DNA condense and coil into the familiar X-shaped form of a chromosome, like the one shown below.
Most cells in the human body have two pairs of 23 different chromosomes, for a total of 46 chromosomes. Cells that have two pairs of chromosomes are called diploid. Because DNA has already replicated when it coils into a chromosome, each chromosome actually consists of two identical structures called sister chromatids. Sister chromatids are joined together at a region called a centromere.
Mitosis
The process in which the nucleus of a eukaryotic cell divides is called mitosis. During mitosis, the two sister chromatids that make up each chromosome separate from each other and move to opposite poles of the cell. This is shown in the figure below.
Mitosis actually occurs in four phases. The phases are called prophase, metaphase, anaphase, and telophase.
Prophase
The first and longest phase of mitosis is prophase. During prophase, chromatin condenses into chromosomes, and the nuclear envelope (the membrane surrounding the nucleus) breaks down. In animal cells, the centrioles near the nucleus begin to separate and move to opposite poles of the cell. Centrioles are small organelles found only in eukaryotic cells. They help ensure that the new cells that form after cell division each contain a complete set of chromosomes. As the centrioles move apart, a spindle starts to form between them. The spindle consists of fibres made of microtubules.
Metaphase
During metaphase, spindle fibres attach to the centromere of each pair of sister chromatids. As you can see in Figure 4.13.7, the sister chromatids line up at the equator (or center) of the cell. The spindle fibres ensure that sister chromatids will separate and go to different daughter cells when the cell divides.
Anaphase
During anaphase, sister chromatids separate and the centromeres divide. The sister chromatids are pulled apart by the shortening of the spindle fibres. This is a little like reeling in a fish by shortening the fishing line. One sister chromatid moves to one pole of the cell, and the other sister chromatid moves to the opposite pole. At the end of anaphase, each pole of the cell has a complete set of chromosomes.
Telophase
During telophase, the chromosomes begin to uncoil and form chromatin. This prepares the genetic material for directing the metabolic activities of the new cells. The spindle also breaks down, and new nuclear envelopes form.
Cytokinesis
Cytokinesis is the final stage of cell division. During cytokinesis, the cytoplasm splits in two and the cell divides, as shown below. In animal cells, the plasma membrane of the parent cell pinches inward along the cell’s equator until two daughter cells form. Thus, the goal of mitosis and cytokinesis is now complete, because one parent cell has given rise to two daughter cells. The daughter cells have the same chromosomes as the parent cell.
4.13 Summary
- Until a eukaryotic cell divides, its nuclear DNA exists as a grainy material called chromatin. After DNA replicates and the cell is about to divide, the DNA condenses and coils into the X-shaped form of a chromosome. Each chromosome actually consists of two sister chromatids, which are joined together at a centromere.
- Mitosis is the process during which the nucleus of a eukaryotic cell divides. During this process, sister chromatids separate from each other and move to opposite poles of the cell. This happens in four phases: prophase, metaphase, anaphase, and telophase.
- Cytokinesis is the final stage of cell division, during which the cytoplasm splits in two and two daughter cells form.
4.13 Review Questions
- Describe the different forms that DNA takes before and during cell division in a eukaryotic cell.
-
- Identify the four phases of mitosis in an animal cell, and summarize what happens during each phase.
- Order the diagrams of the stages of mitosis:
- Explain what happens during cytokinesis in an animal cell.
- What do you think would happen if the sister chromatids of one of the chromosomes did not separate during mitosis?
- True or False:
4.13 Explore More
https://www.youtube.com/watch?time_continue=3&v=C6hn3sA0ip0&feature=emb_logo
Mitosis, NDSU Virtual Cell Animations project (ndsuvirtualcell), 2012.
https://www.youtube.com/watch?time_continue=19&v=EA0qxhR2oOk&feature=emb_logo
Nondisjunction (Trisomy 21) - An Animated Tutorial, Kristen Koprowski, 2012.
Attributions
Figure 4.13.1
Anaphase_IF by Roy van Heesbeen on Wikimedia Commons is released into the public domain (https://en.wikipedia.org/wiki/Public_domain).
Figure 4.13.2
Chromosomes by OpenClipArt-Vectors on Pixabay is used under the Pixabay License (https://pixabay.com/service/license/).
Figure 4.13.3
Chromosome/ Chromatid/ Sister Chromatid by Christine Miller is released into the public domain (https://en.wikipedia.org/wiki/Public_domain).
Figure 4.13.4
Simple Mitosis by Mariana Ruiz Villarreal [LadyofHats] via CK-12 Foundation is used under a CC BY-NC 3.0 (https://creativecommons.org/licenses/by-nc/3.0/) license.
©CK-12 Foundation Licensed under • Terms of Use • Attribution
Figure 4.13.5
Mitotic Prophase [tiny] by Mariana Ruiz Villarreal [LadyofHats] on Wikimedia Commons is released into the public domain (https://en.wikipedia.org/wiki/Public_domain).
Figure 4.13.6
Prophase Eukaryotic Mitosis by Mariana Ruiz Villarreal [LadyofHats] on Wikimedia Commons is released into the public domain (https://en.wikipedia.org/wiki/Public_domain).
Figure 4.13.7
Mitotic_Metaphase by Mariana Ruiz Villarreal [LadyofHats] on Wikimedia Commons is released into the public domain (https://en.wikipedia.org/wiki/Public_domain).
Figure 4.13.8
Metaphase Eukaryotic Mitosis by Mariana Ruiz Villarreal [LadyofHats] on Wikimedia Commons is released into the public domain (https://en.wikipedia.org/wiki/Public_domain).
Figure 4.13.9
Anaphase [adapted] by Mariana Ruiz Villarreal [LadyofHats] on Wikimedia Commons is released into the public domain (https://en.wikipedia.org/wiki/Public_domain).
Figure 4.13.10
Anaphase_eukaryotic_mitosis.svg by Mariana Ruiz Villarreal [LadyofHats] on Wikimedia Commons is released into the public domain (https://en.wikipedia.org/wiki/Public_domain).
Figure 4.13.11
Mitotic Telophase by Mariana Ruiz Villarreal [LadyofHats] on Wikimedia Commons is released into the public domain (https://en.wikipedia.org/wiki/Public_domain).
Figure 4.13.12
Telophase Eukaryotic Mitosis by Mariana Ruiz Villarreal [LadyofHats] on Wikimedia Commons is released into the public domain (https://en.wikipedia.org/wiki/Public_domain).
Figure 4.13.13
Mitotic Cytokinesis by Mariana Ruiz Villarreal [LadyofHats] on Wikimedia Commons is released into the public domain (https://en.wikipedia.org/wiki/Public_domain).
Figure 4.13.14
Cytokinesis Eukaryotic Mitosis by Mariana Ruiz Villarreal [LadyofHats] on Wikimedia Commons is released into the public domain (https://en.wikipedia.org/wiki/Public_domain).
References
Koprowski, K., Cabey, R. [Kristen Koprowski]. (2012). Nondisjunction (Trisomy 21) - An Animated Tutorial. YouTube. https://www.youtube.com/watch?v=EA0qxhR2oOk&feature=youtu.be
NDSU Virtual Cell Animations project [ndsuvirtualcell]. (2012). Mitosis. YouTube. https://www.youtube.com/watch?v=C6hn3sA0ip0&t=21s
Created by CK12/Adapted by Christine Miller
Jasmin discovered that her extreme fatigue, muscle pain, vision problems, and vomiting were due to problems in her mitochondria, like the damaged mitochondria shown in red in Figure 4.14.1. Mitochondria are small, membrane-bound organelles found in eukaryotic cells that provide energy for the cells of the body. They do this by carrying out the final two steps of aerobic cellular respiration: the Krebs cycle and electron transport. This is the major way that the human body breaks down the sugar glucose from food into a form of energy cells can use, namely the molecule ATP.
Because mitochondria provide energy for cells, you can understand why Jasmin was experiencing extreme fatigue, particularly after running. Her damaged mitochondria could not keep up with her need for energy, particularly after intense exercise, which requires a lot of additional energy. What is perhaps not so obvious are the reasons for her other symptoms, such as blurry vision, muscle spasms, and vomiting. All of the cells in the body require energy in order to function properly. Mitochondrial diseases can cause problems in mitochondria in any cell of the body, including muscle cells and cells of the nervous system, which includes the brain and nerves. The nervous system and muscles work together to control vision and digestive system functions, such as vomiting, so when they are not functioning properly, a variety of symptoms can emerge. This also explains why Jasmin’s niece, who has a similar mitochondrial disease, has symptoms related to brain function, such as seizures and learning disabilities. Our cells are microscopic, and mitochondria are even tinier — but they are essential for the proper functioning of our bodies. When they are damaged, serious health effects can occur.
One seemingly confusing aspect of mitochondrial diseases is that the type of symptoms, severity of symptoms, and age of onset can vary wildly between people — even within the same family! In Jasmin’s case, she did not notice symptoms until adulthood, while her niece had more severe symptoms starting at a much younger age. This makes sense when you know more about how mitochondrial diseases work.
Inherited mitochondrial diseases can be due to damage in either the DNA in the nucleus of cells or in the DNA in the mitochondria themselves. Recall that mitochondria are thought to have evolved from prokaryotic organisms that were once free-living, but were then infected or engulfed by larger cells. One of the pieces of evidence that supports this endosymbiotic theory is that mitochondria have their own, separate DNA. When the mitochondrial DNA is damaged (or mutated) it can result in some types of mitochondrial diseases. However, these mutations do not typically affect all of the mitochondria in a cell. During cell division, organelles such as mitochondria are replicated and passed down to the new daughter cells. If some of the mitochondria are damaged, and others are not, the daughter cells can have different amounts of damaged mitochondria. This helps explain the wide range of symptoms in people with mitochondrial diseases — even ones in the same family — because different cells in their bodies are affected in varying degrees. Jasmin’s niece was affected strongly and her symptoms were noticed early, while Jasmin’s symptoms were more mild and did not become apparent until adulthood.
There is still much more that needs to be discovered about the different types of mitochondrial diseases. But by learning about cells, their organelles, how they obtain energy, and how they divide, you should now have a better understanding of the biology behind these diseases.
Apply your understanding of cells to your own life. Can you think of other diseases that affect cellular structures or functions. Do they affect people you know? Since your entire body is made of cells, when cells are damaged or not functioning properly, it can cause a wide variety of health problems.
Chapter 4 Summary
Type your learning objectives here.
In this chapter you learned many facts about cells. Specifically, you learned that:
- Cells are the basic units of structure and function of living things.
- The first cells were observed from cork by Hooke in the 1600s. Soon after, van Leeuwenhoek observed other living cells.
- In the early 1800s, Schwann and Schleiden theorized that cells are the basic building blocks of all living things. Around 1850, Virchow saw cells dividing, and added his own theory that living cells arise only from other living cells. These ideas led to cell theory, which states that all organisms are made of cells, all life functions occur in cells, and all cells come from other cells.
- The invention of the electron microscope in the 1950s allowed scientists to see organelles and other structures inside cells for the first time.
- There is variation in cells, but all cells have a plasma membrane, cytoplasm, ribosomes, and DNA.
-
- The plasma membrane is composed mainly of a bilayer of phospholipid molecules and forms a barrier between the cytoplasm inside the cell and the environment outside the cell. It allows only certain substances to pass in or out of the cell. Some cells have extensions of their plasma membrane with other functions, such as flagella or cilia.
- Cytoplasm is a thick solution that fills a cell and is enclosed by the plasma membrane. It helps give the cell shape, holds organelles, and provides a site for many of the biochemical reactions inside the cell. The liquid part of the cytoplasm is called cytosol.
- Ribosomes are small structures where proteins are made.
- Cells are usually very small, so they have a large enough surface area-to-volume ratio to maintain normal cell processes. Cells with different functions often have different shapes.
- Prokaryotic cells do not have a nucleus. Eukaryotic cells have a nucleus, as well as other organelles. An organelle is a structure within the cytoplasm of a cell that is enclosed within a membrane and performs a specific job.
- The cytoskeleton is a highly organized framework of protein filaments and tubules that criss-cross the cytoplasm of a cell. It gives the cell shape and helps to hold cell structures (such as organelles) in place.
- The nucleus is the largest organelle in a eukaryotic cell. It is considered to be the cell's control center, and it contains DNA and controls gene expression, including which proteins the cell makes.
- The mitochondrion is an organelle that makes energy available to cells. According to the widely accepted endosymbiotic theory, mitochondria evolved from prokaryotic cells that were once free-living organisms that infected or were engulfed by larger prokaryotic cells.
- The endoplasmic reticulum (ER) is an organelle that helps make and transport proteins and lipids. Rough endoplasmic reticulum (RER) is studded with ribosomes. Smooth endoplasmic reticulum (SER) has no ribosomes.
- The Golgi apparatus is a large organelle that processes proteins and prepares them for use both inside and outside the cell. It is also involved in the transport of lipids around the cell.
- Vesicles and vacuoles are sac-like organelles that may be used to store and transport materials in the cell or as chambers for biochemical reactions. Lysosomes and peroxisomes are vesicles that break down foreign matter, dead cells, or poisons.
- Centrioles are organelles located near the nucleus that help organize the chromosomes before cell division so each daughter cell receives the correct number of chromosomes.
- There are two basic ways that substances can cross the cell’s plasma membrane: passive transport (which requires no energy expenditure by the cell) and active transport (which requires energy).
- No energy is needed from the cell for passive transport because it occurs when substances move naturally from an area of higher concentration to an area of lower concentration. Types of passive transport in cells include:
-
- Simple diffusion, which is the movement of a substance due to differences in concentration without any help from other molecules. This is how very small, hydrophobic molecules, such as oxygen and carbon dioxide, enter and leave the cell.
- Osmosis, which is the diffusion of water molecules across the membrane.
- Facilitated diffusion, which is the movement of a substance across a membrane due to differences in concentration, but only with the help of transport proteins in the membrane (such as channel proteins or carrier proteins). This is how large or hydrophilic molecules and charged ions enter and leave the cell.
- Active transport requires energy to move substances across the plasma membrane, often because the substances are moving from an area of lower concentration to an area of higher concentration or because of their large size. Two examples of active transport are the sodium-potassium pump and vesicle transport.
-
- The sodium-potassium pump moves sodium ions out of the cell and potassium ions into the cell, both against a concentration gradient, in order to maintain the proper concentrations of both ions inside and outside the cell and to thereby control membrane potential.
- Vesicle transport uses vesicles to move large molecules into or out of cells.
- Energy is the ability to do work. It is needed by every living cell to carry out life processes.
- The form of energy that living things need is chemical energy, and it comes from food. Food consists of organic molecules that store energy in their chemical bonds.
- Autotrophs (producers) make their own food. Think of plants that make food by photosynthesis. Heterotrophs (consumers) obtain food by eating other organisms.
- Organisms mainly use the molecules glucose and ATP for energy. Glucose is the compact, stable form of energy that is carried in the blood and taken up by cells. ATP contains less energy and is used to power cell processes.
- The flow of energy through living things begins with photosynthesis, which creates glucose. The cells of organisms break down glucose and make ATP.
- Cellular respiration is the aerobic process by which living cells break down glucose molecules, release energy, and form molecules of ATP. Overall, this three-stage process involves glucose and oxygen reacting to form carbon dioxide and water.
-
- Glycolysis, the first stage of cellular respiration, takes place in the cytoplasm. In this step, enzymes split a molecule of glucose into two molecules of pyruvate, which releases energy that is transferred to ATP.
- Transition Reaction takes place between glycolysis and Krebs Cycle. It is a very short reaction in which the pyruvate molecules from glycolysis are converted into Acetyl CoA in order to enter the Krebs Cycle.
- Krebs Cycle, the second stage of cellular respiration, takes place in the matrix of a mitochondrion. During this stage, two turns through the cycle result in all of the carbon atoms from the two pyruvate molecules forming carbon dioxide and the energy from their chemical bonds being stored in a total of 16 energy-carrying molecules (including four from glycolysis).
- The Electron Transport System, he third stage of cellular respiration, takes place on the inner membrane of the mitochondrion. Electrons are transported from molecule to molecule down an electron-transport chain. Some of the energy from the electrons is used to pump hydrogen ions across the membrane, creating an electrochemical gradient that drives the synthesis of many more molecules of ATP.
- In all three stages of aerobic cellular respiration combined, as many as 38 molecules of ATP are produced from just one molecule of glucose.
- Some organisms can produce ATP from glucose by anaerobic respiration, which does not require oxygen. Fermentation is an important type of anaerobic process. There are two types: alcoholic fermentation and lactic acid fermentation. Both start with glycolysis.
-
- Alcoholic fermentation is carried out by single-celled organisms, including yeasts and some bacteria. We use alcoholic fermentation in these organisms to make biofuels, bread, and wine.
- Lactic acid fermentation is undertaken by certain bacteria, including the bacteria in yogurt, and also by our muscle cells when they are worked hard and fast.
- Anaerobic respiration produces far less ATP (typically produces 2 ATP) than does aerobic cellular respiration, but it has the advantage of being much faster.
- The cell cycle is a repeating series of events that includes growth, DNA synthesis, and cell division.
- In a eukaryotic cell, the cell cycle has two major phases: interphase and mitotic phase. During interphase, the cell grows, performs routine life processes, and prepares to divide. During mitotic phase, first the nucleus divides (mitosis) and then the cytoplasm divides (cytokinesis), which produces two daughter cells.
-
- Until a eukaryotic cell divides, its nuclear DNA exists as a grainy material called chromatin. After DNA replicates and the cell is about to divide, the DNA condenses and coils into the X-shaped form of a chromosome. Each chromosome consists of two sister chromatids, which are joined together at a centromere.
- During mitosis, sister chromatids separate from each other and move to opposite poles of the cell. This happens in four phases: prophase, metaphase, anaphase, and telophase.
- The cell cycle is controlled mainly by regulatory proteins that signal the cell to either start or delay the next phase of the cycle at key checkpoints.
- Cancer is a disease that occurs when the cell cycle is no longer regulated, often because the cell's DNA has become damaged. Cancerous cells grow out of control and may form a mass of abnormal cells called a tumor.
In this chapter, you learned about cells and some of their functions, as well as how they pass genetic material in the form of DNA to their daughter cells. In the next chapter, you will learn how DNA is passed down to offspring, which causes traits to be inherited. These traits may be innocuous (such as eye colour) or detrimental (such as mutations that cause disease). The study of how genes are passed down to offspring is called genetics, and as you will learn in the next chapter, this is an interesting topic that is highly relevant to human health.
Chapter 4 Review
- Sequence:
- Drag and Drop:
- True or False:
- Multiple Choice:
- Briefly explain how the energy in the food you eat gets there, and how it provides energy for your neurons in the form necessary to power this process.
- Explain why the inside of the plasma membrane — the side that faces the cytoplasm of the cell — must be hydrophilic.
- Explain the relationships between interphase, mitosis, and cytokinesis.
Attributions
Figure 4.14.1
Mitochondrial Disease muscle sample by Nephron is used under a CC BY-SA 3.0 (https://creativecommons.org/licenses/by-sa/3.0) license.
Figure 4.14.2
Aunt and Niece by Tatiana Rodriguez on Unsplash is used under the Unsplash License (https://unsplash.com/license).
Reference
Wikipedia contributors. (2020, June 6). Mitochondrial disease. In Wikipedia. https://en.wikipedia.org/w/index.php?title=Mitochondrial_disease&oldid=961126371
Created by: CK-12/Adapted by Christine Miller
Identical Twins, Identical Genes
You probably can tell by their close resemblance that these two young ladies are identical twins (Figure 5.2.1). Identical twins develop from the same fertilized egg, so they inherit copies of the same chromosomes and have all the same genes. Unless you have an identical twin, no one else in the world has exactly the same genes as you. What are genes? How are they related to chromosomes? And how do genes make you the person you are? Let's find out!
Introducing Chromosomes and Genes
Chromosomes are coiled structures made of DNA and proteins. They are encoded with genetic instructions for making RNA and proteins. These instructions are organized into units called genes. There may be hundreds (or even thousands!) of genes on a single chromosome. Genes are segments of DNA that code for particular pieces of RNA. Once formed, some RNA molecules go on to act as blueprints for building proteins, while other RNA molecules help regulate various processes inside the cell. Some regions of DNA do not code for RNA and serve a regulatory function, or have no known function.
Human Chromosomes
Each species is characterized by a set number of chromosomes. Humans cells normally have two sets of chromosomes in each of their cells, one set inherited from each parent. Because chromosomes occur in pairs, these cells are called diploid or 2N. There are 23 chromosomes in each set, for a total of 46 chromosomes per diploid cell. Each chromosome in one set is matched by a chromosome of the same type in the other set, so there are 23 pairs of chromosomes per cell. Each pair consists of chromosomes of the same size and shape, and they also contain the same genes. The chromosomes in a pair are known as homologous chromosomes.
All human cells (except gametes, which are sperm and egg cells) have the 23 pairs of chromosomes as shown in Figure 5.2.2.
https://www.youtube.com/watch?v=veB31XmUQm8&feature=youtu.be
Secrets of the X chromosome - Robin Ball, TED-Ed, 2019.
Autosomes
Of the 23 pairs of human chromosomes, 22 pairs are called autosomes (pairs 1-22 in the Figure 5.2.2), or autosomal chromosomes. Autosomes are chromosomes that contain genes for characteristics that are unrelated to biological sex. These chromosomes are the same in males and females. The great majority of human genes are located on autosomes.
Sex Chromosomes
The remaining pair of human chromosomes consists of the sex chromosomes, X and Y (Pair 23 in Figure 5.2.2 and in Figure 5.2.3). Females have two X chromosomes, and males have one X and one Y chromosome. In females, one of the X chromosomes in each cell is inactivated and known as a Barr body. This ensures that females, like males, have only one functioning copy of the X chromosome in each cell.
As you can see from Figure 5.2.3, the X chromosome is much larger than the Y chromosome. The X chromosome has about two thousand genes, whereas the Y chromosome has fewer than 100, none of which is essential to survival. Virtually all of the X chromosome genes are unrelated to sex. Only the Y chromosome contains genes that determine sex. A single Y chromosome gene, called SRY (which stands for sex-determining region Y gene), triggers an embryo to develop into a male. Without a Y chromosome, an individual develops into a female, so you can think of female as the default sex of the human species.
Human Genes
Humans have an estimated 20 thousand to 22 thousand genes. This may sound like a lot, but it really isn’t. Far simpler species have almost as many genes as humans. However, human cells use splicing and other processes to make multiple proteins from the instructions encoded in a single gene. Only about 25 per cent of the nitrogen base pairs of DNA in human chromosomes make up genes and their regulatory elements. The functions of many of the other base pairs are still unclear, but with more time and research their roles may become understood.
The majority of human genes have two or more possible versions, called alleles. Differences in alleles account for the considerable genetic variation among people. In fact, most human genetic variation is the result of differences in individual DNA base pairs within alleles.
Linkage
Genes that are located on the same chromosome are called linked genes. Linkage explains why certain characteristics are frequently inherited together. For example, genes for hair colour and eye colour are linked, so certain hair and eye colours tend to be inherited together, such as dark hair with dark eyes and blonde hair with blue eyes. Can you think of other human traits that seem to occur together? Do you think they might be controlled by linked genes?
Genes located on the sex chromosomes are called sex-linked genes. Most sex-linked genes are on the X chromosome, because the Y chromosome has relatively few genes. Strictly speaking, genes on the X chromosome are X-linked genes, but the term sex-linked is often used to refer to them. The diagram below is called a linkage map: a linkage map shows the locations of specific genes on a chromosome. The linkage map below (Figure 5.2.4) shows the locations of a few of the genes on the human X chromosome.
Figure 5.2.4 Linkage Map for the Human X Chromosome. This linkage map shows the locations of several genes on the X chromosome. Some of the genes code for normal proteins. Others code for abnormal proteins that lead to genetic disorders.
5.2 Summary
- Chromosomes are coiled structures made of DNA and proteins that are encoded with genetic instructions for making RNA and proteins. The instructions are organized into units called genes, which are segments of DNA that code for particular pieces of RNA. The RNA molecules can then act as a blueprint for proteins, or directly help regulate various cellular processes.
- Each species is characterized by a set number of chromosomes. The normal chromosome complement of a human cell is 23 pairs of chromosomes. Of these, 22 pairs are autosomes, which contain genes for characteristics unrelated to sex. The other pair consists of sex chromosomes (XX in females, XY in males). Only the Y chromosome contains genes that determine sex.
- Humans have an estimated 20 thousand to 22 thousand genes. The majority of human genes have two or more possible versions, which are called alleles.
- Genes that are located on the same chromosome are called linked genes. Linkage explains why certain characteristics are frequently inherited together. A linkage map shows the locations of specific genes on a chromosome.
5.2 Review Questions
- What are chromosomes and genes? How are the two related?
- Describe human chromosomes and genes.
- Explain the difference between autosomes and sex chromosomes.
- What are linked genes, and what does a linkage map show?
- Explain why females are considered the default sex in humans.
- Explain the relationship between genes and alleles.
- Most males and females have two sex chromosomes. Why do only females have Barr bodies?
-
-
5.2 Explore More
https://www.youtube.com/watch?v=M4ut72kfUJM
WACE Biology: Coding and Non-Coding DNA, Atomi, 2019.
https://www.youtube.com/watch?time_continue=3&v=jhHGCvMlrb0&feature=emb_logo
How Sex Genes Are More Complicated Than You Thought, Seeker, 2015.
Attributions
Figure 5.2.1
Twins5 [photo] by Bùi Thanh Tâm on Unsplash is used under the Unsplash License (https://unsplash.com/license).
Figure 5.2.2
Human_male_karyotype by National Human Genome Research Institute/ NIH on Wikimedia Commons is released into the public domain (https://en.wikipedia.org/wiki/Public_domain). (Original from the Talking Glossary of Genetics.)
Figure 5.2.3
Comparison between X and Y chromosomes byJonathan Bailey, National Human Genome Research Institute, National Institutes of Health [NIH] Image Gallery, on Flickr is used under a CC BY-NC 2.0 (https://creativecommons.org/licenses/by-nc/2.0/) license.
Figure 5.2.4
Linkage Map of Human X Chromosome by Christine Miller is used under a
CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/) license.
References
Atomi. (2019, October 27). WACE Biology: Coding and Non-Coding DNA. YouTube. https://www.youtube.com/watch?v=M4ut72kfUJM&feature=youtu.be
Seeker. (2015, July 26). How Sex Genes Are More Complicated Than You Thought. YouTube. https://www.youtube.com/watch?v=jhHGCvMlrb0&feature=youtu.be
TED-Ed. (2017, April 18). Secrets of the X chromosome - Robin Ball. YouTube. https://www.youtube.com/watch?v=veB31XmUQm8&feature=youtu.be