Chapter 5 Genetics
5.11 Genetics of Inheritance
Created by: CK-12/Adapted by Christine Miller
Like Father, Like Son
This father-son duo share some similarities. The shape of their faces and their facial features look very similar. If you saw them together, you might well guess that they are father and son. People have long known that the characteristics of living things are similar between parents and their offspring. However, it wasn’t until the experiments of Gregor Mendel that scientists understood how those traits are inherited.
The Father of Genetics
Mendel did experiments with pea plants to show how traits such as seed shape and flower colour are inherited. Based on his research, he developed his two well known laws of inheritance: the law of segregation and the law of independent assortment. When Mendel died in 1884, his work was still virtually unknown. In 1900, three other researchers working independently came to the same conclusions that Mendel had drawn almost half a century earlier. Only then was Mendel’s work rediscovered.
Mendel knew nothing about genes, because they were discovered after his death. He did think, however, that some type of “factors” controlled traits, and that those “factors” were passed from parents to offspring. We now call these “factors” genes. Mendel's laws of inheritance, now expressed in terms of genes, form the basis of genetics, the science of heredity. For this reason, Mendel is often called the father of genetics.
The Language of Genetics
Today, we know that traits of organisms are controlled by genes on chromosomes. To talk about inheritance in terms of genes and chromosomes, you need to know the language of genetics. The terms below serve as a good starting point. They are illustrated in the figure that follows.
- A gene is the part of a chromosome that contains the genetic code for a given protein. For example, in pea plants, a given gene might code for flower colour.
- The position of a given gene on a chromosome is called its locus (plural, loci). A gene might be located near the center, or at one end or the other of a chromosome.
- A given gene may have different normal versions, which are called alleles. For example, in pea plants, there is a purple-flower allele (B) and a white-flower allele (b) for the flower-colour gene. Different alleles account for much of the variation in the traits of organisms, including people.
- In sexually reproducing organisms, each individual has two copies of each type of chromosome. Paired chromosomes of the same type are called homologous chromosomes. They are about the same size and shape, and they have all the same genes at the same loci.
Genotype
When sexual reproduction occurs, sex cells (called gametes) unite during fertilization to form a single cell called a zygote. The zygote inherits two of each type of chromosome, with one chromosome of each type coming from the father, and the other coming from the mother. Because homologous chromosomes have the same genes at the same loci, each individual also inherits two copies of each gene. The two copies may be the same allele or different alleles. The alleles an individual inherits for a given gene make up the individual’s genotype. As shown in Table 5.11.1, an organism with two of the same allele (for example, BB or bb) is called a homozygote. An organism with two different alleles (in this example, Bb) is called a heterozygote.
Table 5.11.1
Allele Combinations Associated With the Terms Homozygous and Heterozygous
Phenotype
The expression of an organism’s genotype is referred to as its phenotype, and it refers to the organism’s traits, such as purple or white flowers in pea plants. As you can see from Table 5.11.1, different genotypes may produce the same phenotype. In this example, both BB and Bb genotypes produce plants with the same phenotype, purple flowers. Why does this happen? In a Bb heterozygote, only the B allele is expressed, so the b allele doesn’t influence the phenotype. In general, when only one of two alleles is expressed in the phenotype, the expressed allele is called dominant, and the allele that isn’t expressed is called recessive.
The terms dominant and recessive may also be used to refer to phenotypic traits. For example, purple flower colour in pea plants is a dominant trait. It shows up in the phenotype whenever a plant inherits even one dominant allele for the trait. Similarly, white flower colour is a recessive trait. Like other recessive traits, it shows up in the phenotype only when a plant inherits two recessive alleles for the trait.
5.11 Summary
- Mendel’s laws of inheritance, now expressed in terms of genes, form the basis of genetics, which is the science of heredity. This is why Mendel is often called the father of genetics.
- A gene is the part of a chromosome that codes for a given protein. The position of a gene on a chromosome is its locus. A given gene may have different versions, called alleles. Paired chromosomes of the same type are called homologous chromosomes. They have the same size and shape, and they have the same genes at the same loci.
- The alleles an individual inherits for a given gene make up the individual’s genotype. An organism with two of the same allele is called a homozygote, and an individual with two different alleles is called a heterozygote.
- The expression of an organism’s genotype is referred to as its phenotype. A dominant allele is always expressed in the phenotype, even when just one dominant allele has been inherited. A recessive allele is expressed in the phenotype only when two recessive alleles have been inherited.
5.11 Review Questions
- Define genetics.
- Why is Gregor Mendel called the father of genetics if genes were not discovered until after his death?
-
- Imagine that there are two alleles, R and r, for a given gene. R is dominant to r. Answer the following questions about this gene:
- What are the possible homozygous and heterozygous genotypes?
- Which genotype or genotypes express the dominant R phenotype? Explain your answer.
- Are R and r on different loci? Why or why not?
- Can R and r be on the same exact chromosome? Why or why not? If not, where are they located?
5.11 Explore More
Alleles and Genes, Amoeba Sisters, 2018.
Genotypes and Phenotypes, Bozeman Science, 2011.
Attributions
Figure 5.11.1
Father holding his baby boy with matching haircut [photo] by Kelly Sikkema on Unsplash is used under the Unsplash License (https://unsplash.com/license).
Figure 5.11.2
Chromosome, Gene, Locus, and Allele 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
Table 5.11.1
Allele Combinations Associated With the Terms Homozygous and Heterozygous by Christine Miller is released into the public domain (https://en.wikipedia.org/wiki/Public_domain).
References
Amoeba Sisters. (2018, February 1). Alleles and genes. YouTube. https://www.youtube.com/watch?v=pv3Kj0UjiLE&feature=youtu.be
Bozeman Science. (2011, August 4). Genotypes and phenotypes. YouTube. https://www.youtube.com/watch?v=OaovnS7BAoc&feature=youtu.be
Brainard, J/ CK-12 Foundation. (2016). Figure 2 Chromosome, gene, locus, and allele [digital image]. In CK-12 College Human Biology (Section 5.10) [online Flexbook]. CK12.org. https://www.ck12.org/book/ck-12-human-biology/section/5.9/
Allele pairs separate or segregate during gamete formation and randomly unite at fertilization.
The alleles of two (or more) different genes get sorted into gametes independently of one another.
Consists of two laws: Mendel's Law of Segregation states individuals possess two alleles and a parent passes only one allele to his/her offspring. Mendel's Law of Independent Assortment states the inheritance of one pair of factors ( genes ) is independent of the inheritance of the other pair.
A branch of biology concerned with the study of genes, genetic variation, and heredity in organisms.
A sequence of nucleotides in DNA or RNA that codes for a molecule that has a function.
A threadlike structure of nucleic acids and protein found in the nucleus of most living cells, carrying genetic information in the form of genes.
A class of biological molecule consisting of linked monomers of amino acids and which are the most versatile macromolecules in living systems and serve crucial functions in essentially all biological processes.
A specific, fixed position on a chromosome where a particular gene or genetic marker is located.
A variant form of a given gene, meaning it is one of two or more versions of a known mutation at the same place on a chromosome. It can also refer to different sequence variations for a several-hundred base-pair or more region of the genome that codes for a protein.
Two pieces of DNA within a diploid organism which carry the same types genes, one from each parental source.
A type of reproduction that involves a complex life cycle in which a gamete with a single set of chromosomes combines with another to produce an organism composed of cells with two sets of chromosomes.
A mature haploid male or female germ cell which is able to unite with another of the opposite sex in sexual reproduction to form a zygote.
The fusion of haploid gametes, egg and sperm, to form the diploid zygote.
The union of the sperm cell and the egg cell. Also known as a fertilized ovum, the zygote begins as a single cell but divides rapidly in the days following fertilization. After this two-week period of cell division, the zygote eventually becomes an embryo.
The part of the genetic makeup of a cell, and therefore of any individual, which determines one of its characteristics (phenotype).
An organism with identical pairs of genes (or alleles) for a specific trait. If both of the two gametes (sex cells) that fuse during fertilization carry the same form of the gene for a specific trait, the organism is said to be homozygous for that trait.
An individual who has two different forms of a particular gene, one inherited from each parent.
The set of observable characteristics of an individual resulting from the interaction of its genotype with the environment.
The phenomenon of one variant of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome.
A gene that can be masked by a dominant gene. In order to have a trait that is expressed by a recessive gene, such as blue eyes, you must get the gene for blue eyes from both of your parents.