4.6 Cell Organelles
Created by: CK-12/Adapted by Christine Miller
Ribosome Review
The 25-metre long sculpture shown in Figure 4.6.1 is a recognition of the beauty of one of the metabolic functions that takes place in the cells in your body. This artwork brings to life an important structure in living cells: the ribosome, the cell structure where proteins are synthesized. The slender silver strand is the messenger RNA(mRNA) bringing the code for a protein out into the cytoplasm. The purple and green structures are ribosomal subunits (which together form a single ribosome), which can “read” the code on the mRNA and direct the bonding of the correct sequence of amino acids to create a protein. All living cells — whether they are prokaryotic or eukaryotic — contain ribosomes, but only eukaryotic cells also contain a nucleus and several other types of organelles.
What Are Organelles?
An organelle is a structure within the cytoplasm of a eukaryotic cell that is enclosed within a membrane and performs a specific job. Organelles are involved in many vital cell functions. Organelles in animal cells include the nucleus, mitochondria, endoplasmic reticulum, Golgi apparatus, vesicles, and vacuoles. Ribosomes are not enclosed within a membrane, but they are still commonly referred to as organelles in eukaryotic cells.
The Nucleus
The nucleus is the largest organelle in a eukaryotic cell, and it’s considered the cell’s control center. It contains most of the cell’s DNA(which makes up chromosomes), and it is encoded with the genetic instructions for making proteins. The function of the nucleus is to regulate gene expression, including controlling which proteins the cell makes. In addition to DNA, the nucleus contains a thick liquid called nucleoplasm, which is similar in composition to the cytosol found in the cytoplasm outside the nucleus. Most eukaryotic cells contain just a single nucleus, but some types of cells (such as red blood cells) contain no nucleus and a few other types of cells (such as muscle cells) contain multiple nuclei.
As you can see in the model pictured in Figure 4.6.2, the membrane enclosing the nucleus is called the nuclear envelope. This is actually a double membrane that encloses the entire organelle and isolates its contents from the cellular cytoplasm. Tiny holes called nuclear pores allow large molecules to pass through the nuclear envelope, with the help of special proteins. Large proteins and RNA molecules must be able to pass through the nuclear envelope so proteins can be synthesized in the cytoplasm and the genetic material can be maintained inside the nucleus. The nucleolus shown in the model below is mainly involved in the assembly of ribosomes. After being produced in the nucleolus, ribosomes are exported to the cytoplasm, where they are involved in the synthesis of proteins.
Mitochondria
The mitochondrion (plural, mitochondria) is an organelle that makes energy available to the cell. This is why mitochondria are sometimes referred to as the “power plants of the cell.” They use energy from organic compounds (such as glucose) to make molecules of ATP (adenosine triphosphate), an energy-carrying molecule that is used almost universally inside cells for energy.
Mitochondria (as in the Figure 4.6.3 diagram) have a complex structure including an inner and out membrane. In addition, mitochondria have their own DNA, ribosomes, and a version of cytoplasm, called matrix. Does this sound similar to the requirements to be considered a cell? That’s because they are!
Scientists think that mitochondria were once free-living organisms because they contain their own DNA. They theorize that ancient prokaryotes infected (or were engulfed by) larger prokaryotic cells, and the two organisms evolved a symbiotic relationship that benefited both of them. The larger cells provided the smaller prokaryotes with a place to live. In return, the larger cells got extra energy from the smaller prokaryotes. Eventually, the smaller prokaryotes became permanent guests of the larger cells, as organelles inside them. This theory is called endosymbiotic theory, and it is widely accepted by biologists today. (See the video in section 4.3 to learn all about endosymbiotic theory.)
Endoplasmic Reticulum
The endoplasmic reticulum (ER) is an organelle that helps make and transport proteins and lipids. There are two types of endoplasmic reticulum: rough endoplasmic reticulum (rER) and smooth endoplasmic reticulum (sER). Both types are shown in Figure 4.6.4.
- rER looks rough because it is studded with ribosomes. It provides a framework for the ribosomes, which make proteins. Bits of its membrane pinch off to form tiny sacs called vesicles, which carry proteins away from the ER.
- sER looks smooth because it does not have ribosomes. sER makes lipids, stores substances, and plays other roles.
The Figure 4.6.4 drawing includes the nucleus, rER, sER, and Golgi apparatus. From the drawing, you can see how all these organelles work together to make and transport proteins.
Golgi Apparatus
The Golgi apparatus (shown in the Figure 4.6.4 diagram) is a large organelle that processes proteins and prepares them for use both inside and outside the cell. You can see the Golgi apparatus in the figure above. The Golgi apparatus is something like a post office. It receives items (proteins from the ER), then packages and labels them before sending them on to their destinations (to different parts of the cell or to the cell membrane for transport out of the cell). The Golgi apparatus is also involved in the transport of lipids around the cell.
Vesicles and Vacuoles
Both vesicles and vacuoles are sac-like organelles made of phospholipid bilayer that store and transport materials in the cell. Vesicles are much smaller than vacuoles and have a variety of functions. The vesicles that pinch off from the membranes of the ER and Golgi apparatus store and transport protein and lipid molecules. You can see an example of this type of transport vesicle in the Figure 4.6.4. Some vesicles are used as chambers for biochemical reactions.
There are some vesicles which are specialized to carry out specific functions. Lysosomes, which use enzymes to break down foreign matter and dead cells, have a double membrane to make sure their contents don’t leak into the rest of the cell. Peroxisomes are another type of specialized vesicle with the main function of breaking down fatty acids and some toxins.
Centrioles
Centrioles are organelles involved in cell division. The function of centrioles is to help organize the chromosomes before cell division occurs so that each daughter cell has the correct number of chromosomes after the cell divides. Centrioles are found only in animal cells, and are located near the nucleus. Each centriole is made mainly of a protein named tubulin. The centriole is cylindrical in shape and consists of many microtubules, as shown in the model pictured in Figure 4.6.5.
Ribosomes
Ribosomes are small structures where proteins are made. Although they are not enclosed within a membrane, they are frequently considered organelles. Each ribosome is formed of two subunits, like the ones pictured at the beginning of this section (Figure 4.6.1) and in Figure 4.6.6. Both subunits consist of proteins and RNA. mRNA from the nucleus carries the genetic code, copied from DNA, which remains in the nucleus. At the ribosome, the genetic code in mRNA is used to assemble and join together amino acids to make proteins. Ribosomes can be found alone or in groups within the cytoplasm, as well as on the rER.
4.6 Summary
- An organelle is a structure within the cytoplasm of a eukaryotic cell that is enclosed within a membrane and performs a specific job. Although ribosomes are not enclosed within a membrane, they are still commonly referred to as organelles in eukaryotic cells.
- The nucleus is the largest organelle in a eukaryotic cell, and it is considered to be the cell’s control center. It controls gene expression, including controlling which proteins the cell makes.
- The mitochondrion (plural, mitochondria) is an organelle that makes energy available to the cells. It is like the power plant of the cell. 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.
- Both 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 special types of 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.
- Ribosomes are small structures where proteins are made. They are found in both prokaryotic and eukaryotic cells. They may be found alone or in groups within the cytoplasm or on the rER.
4.6 Review Questions
- What is an organelle?
- Describe the structure and function of the nucleus.
- Explain how the nucleus, ribosomes, rough endoplasmic reticulum, and Golgi apparatus work together to make and transport proteins.
- Why are mitochondria referred to as the “power plants of the cell”?
- What roles are played by vesicles and vacuoles?
- Why do all cells need ribosomes — even prokaryotic cells that lack a nucleus and other cell organelles?
- Explain endosymbiotic theory as it relates to mitochondria. What is one piece of evidence that supports this theory?
-
4.6 Explore More
Biology: Cell Structure I Nucleus Medical Media, Nucleus Medical Media, 2015.
David Bolinsky: Visualizing the wonder of a living cell, TED, 2007.
Attributes
Figure 4.6.1
Ribosomes at Work by Pedrik on Flickr is used under a CC BY-NC-SA 2.0 (https://creativecommons.org/licenses/by-nc-sa/2.0/) license.
Figure 4.6.2
Nucleus by BruceBlaus on Wikimedia Commons is used under a CC BY 3.0 (https://creativecommons.org/licenses/by/3.0) license.
Figure 4.6.3
Mitochondrion_structure.svg by Kelvinsong; modified by Sowlos on Wikimedia Commons is used and adapted by Christine Miller under a CC BY-SA 3.0 (https://creativecommons.org/licenses/by-sa/3.0) license.
Figure 4.6.4
Endomembrane_system_diagram_en.svg by Mariana Ruiz [LadyofHats] on Wikimedia Commons is released into the public domain (https://en.wikipedia.org/wiki/Public_domain).
Figure 4.6.5
Centrioles by BruceBlaus on Wikimedia Commons is used under a CC BY 3.0 (https://creativecommons.org/licenses/by/3.0) license.
Figure 4.6.6
Ribosome_shape by Vossman on Wikimedia Commons is used and adapted by Christine Miller under a CC BY-SA 3.0 (https://creativecommons.org/licenses/by-sa/3.0) license.
References
Blausen.com staff. (2014). Nucleus – Medical gallery of Blausen Medical 2014. WikiJournal of Medicine 1 (2). DOI:10.15347/wjm/2014.010. ISSN 2002-4436. https://en.wikiversity.org/wiki/WikiJournal_of_Medicine/Medical_gallery_of_Blausen_Medical_2014
Blausen.com staff (2014). Centrioles – Medical gallery of Blausen Medical 2014. WikiJournal of Medicine 1 (2). DOI:10.15347/wjm/2014.010. ISSN 2002-4436.https://en.wikiversity.org/wiki/WikiJournal_of_Medicine/Medical_gallery_of_Blausen_Medical_2014
Nucleus Medical Media. (2015, March 18). Biology: Cell structure I Nucleus Medical Media. YouTube. https://www.youtube.com/watch?v=URUJD5NEXC8&feature=youtu.be
TED. (2007, July 24). David Bolinsky: Visualizing the wonder of a living cell. YouTube. https://www.youtube.com/watch?v=Id2rZS59xSE&feature=youtu.be
The movement of ions or molecules across a cell membrane into a region of higher concentration, assisted by enzymes and requiring energy.
Woman looks thoughtfully out at the countryside.
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.
Image shows an adult and child sitting together.
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
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
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
By Christine Miller
DNA Replication: Overview
DNA replication is required for the growth or replication of an organism. You started as one single cell and are now made up of approximately 37 trillion cells! Each and every one of these cells contains the exact same copy of DNA, which originated from the first cell that was you. How did you get from one set of DNA, to 37 million sets, one for each cell? Through DNA replication.
Knowledge of DNA’s structure helped scientists understand DNA replication, the process by which DNA is copied. It occurs during the synthesis (S) phase of the eukaryotic cell cycle. DNA must be copied so that each new daughter cell will have a complete set of chromosomes after cell division occurs.
DNA replication is referred to as "semi-conservative". What this means is when a strand of DNA is replicated, each of the two original strands acts as a template for a new complementary strand. When the replication process is complete, there are two identical sets of DNA, each containing one of the original strands of DNA, and one newly synthesized strand.
DNA replication involves a certain sequence of events. For each event, there is a specific enzyme which facilitates the process. There are four main enzymes that facilitate DNA replication: helicase, primase, DNA polymerase, and ligase.
DNA Replication: The Process
DNA replication begins when an enzyme called helicase unwinds, and unzips the DNA molecule. If you recall the structure of DNA, you may remember that it consists of two long strands of nucleotides held together by hydrogen bonds between complementary nitrogenous bases. This forms a ladder-like structure which is in a coiled shape. In order to start DNA replication, helicase needs to unwind the molecule and break apart the hydrogen bonds holding together complementary nitrogenous bases. This causes the two strands of DNA to separate.
Small molecules called single-stranded binding proteins (SSB) attach to the loose strands of DNA to keep them from re-forming the hydrogen bonds that helicase just broke apart.
Once the nitrogenous bases from the inside of the DNA molecule are exposed, the creation of a new, complementary strand can begin. DNA polymerase creates the new strand, but it needs some help in finding the correct place to begin, so primase lays down a short section of RNA primer (shown in green in Figure 5.4.3). Once this short section of primer is laid, DNA polymerase can bind to the DNA molecule and start connecting nucleotides in the correct order to match the sequence of nitrogenous bases on the template (original) strand.
If we think about the DNA molecule, we may remember that the two strands of DNA run antiparallel to one another. This means that in the sugar-phosphate backbone, one strand of the DNA has the sugar oriented in the "up" position, and the other strand has the phosphate oriented in the "up" position (see Figure 5.4.4). DNA polymerase is an enzyme which can only work in one direction on the DNA molecule. This means that one strand of DNA can be replicated in one long string, as DNA polymerase follows helicase as it unzips the DNA molecule. This strand is termed the "leading strand". The other strand, however, can only be replicated in small chunks since the DNA polymerase replicates in the opposite direction that helicase is unzipping. This strand is termed the "lagging strand". These small chunks of replicated DNA on the lagging strand are called Okazaki fragments.
Take a look at Figure 5.4.5 and find the Okazaki fragments, the leading strand and the lagging strand.
Once DNA polymerase has replicated the DNA, a third enzyme called ligase completes the final stage of DNA replication, which is repairing the sugar-phosphate backbone. This connects the gaps in the backbone between Okazaki fragments. Once this is complete, the DNA coils back into its classic double helix structure.
Semi-Conservative Replication
When DNA replication is complete, there are two identical sets of double stranded DNA, each with one strand from the original, template, DNA molecule, and one strand that was newly synthesized during the DNA replication process. Because each new set of DNA contains one old and one new strand, we describe DNA as being semi-conservative.
Watch this video for a great overview of DNA replication:
https://www.youtube.com/watch?v=Qqe4thU-os8
DNA Replication (Updated), Amoeba Sisters, 2019.
5.4 Summary
- DNA replication requires the action of three main enzymes each with their own specific role:
- Helicase unzips and unwinds the DNA molecule.
- DNA polymerase creates a new complementary strand of DNA on each of the originals halves that were separated by helicase. New nucleotides are added through complementary base pairing: A pairs with T, and C with G.
- Ligase repairs gaps in the sugar-phosphate backbone between Okazaki fragments.
- DNA replication is semi-conservative because each daughter molecule contains one strand from the parent molecule and one new complementary strand.
5.4 Review Questions
2. Why are Okazaki fragments formed?
- Because helicase only unzips DNA in one direction.
- Because DNA is in a double helix.
- Because DNA polymerase only replicates DNA in one direction.
- Because DNA replication is semi-conservative.
3. Drag and drop to label the diagram.
5.4 Explore More
https://www.youtube.com/watch?v=TNKWgcFPHqw
DNA replication - 3D, yourgenome, 2015.
Attributions
Figure 5.4.1
DNA_replication_split.svg by Madprime on Wikimedia Commons is used under a CC0 1.0
Public Domain Dedication license (https://creativecommons.org/publicdomain/zero/1.0/deed.en).
Figure 5.4.2
Helicase and single stranded binding proteins (1) by Christine Miller is used under a CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/) license.
Figure 5.4.3
DNA polymerase and primase by Christine Miller is used under a CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/) license.
Figure 5.4.4
DNA strands run antiparallel by Christine Miller is used under a CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/) license.
Figure 5.4.5
Leading and lagging strand/ DNA Replication/ by yourgenome on Flickr is used under a CC BY-NC-SA 2.0 (https://creativecommons.org/licenses/by-nc-sa/2.0/) license.
References
Amoeba Sisters. (2019, June 28). DNA replication (Updated). YouTube. https://www.youtube.com/watch?v=Qqe4thU-os8&feature=youtu.be
Betts, J. G., Young, K.A., Wise, J.A., Johnson, E., Poe, B., Kruse, D.H., Korol, O., Johnson, J.E., Womble, M., DeSaix, P. (2013, April 25). Figure 3.24 DNA Replication [digital image]. In Anatomy and Physiology. OpenStax. https://openstax.org/books/anatomy-and-physiology/pages/3-3-the-nucleus-and-dna-replication CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/)
yourgenome. (2015, June 26). DNA replication - 3D. YouTube. https://www.youtube.com/watch?v=TNKWgcFPHqw&feature=youtu.be
![Mitotic Prophase [tiny]](https://commons.wikimedia.org/wiki/File:Mitotic_Prophase.svg){kind=link}
