Laws of Inheritance

Learning Objectives

By the end of this section, you will be able to:

  • Explain the relationship between genotypes and phenotypes in dominant and recessive gene systems
  • Use a Punnett square to calculate the expected proportions of genotypes and phenotypes in a monohybrid cross
  • Explain Mendel’s law of segregation and independent assortment in terms of genetics and the events of meiosis
  • Explain the purpose and methods of a test cross

The seven characteristics that Mendel evaluated in his pea plants were each expressed as one of two versions, or traits. Mendel deduced from his results that each individual had two discrete copies of the characteristic that are passed individually to offspring. We now call those two copies genes, which are carried on chromosomes. The reason we have two copies of each gene is that we inherit one from each parent. In fact, it is the chromosomes we inherit and the two copies of each gene are located on paired chromosomes. Recall that in meiosis these chromosomes are separated out into haploid gametes. This separation, or segregation, of the homologous chromosomes means also that only one of the copies of the gene gets moved into a gamete (sperm or egg). The offspring are formed when that gamete unites with one from another parent and the two copies of each gene (and chromosome) are restored.

For cases in which a single gene controls a single characteristic, a diploid organism has two genetic copies that may or may not be identical to each other. For example, one individual may carry a gene that determines white flower color as well as a gene that determines violet flower color (i.e. two different copies of the gene). Gene variants that arise by mutation and exist at the same relative locations on homologous chromosomes are called alleles. Mendel examined the inheritance of genes with just two allele forms (e.g. green peas and yellow peas, or violet flowers and white flowers, etc.), but it is common to encounter more than two alleles for any given gene in a natural population.

Phenotypes and Genotypes

Two alleles for a given gene in a diploid organism are expressed and interact to produce physical characteristics. The observable traits expressed (shown) by an organism are referred to as its phenotype. An organism’s underlying genetic makeup, consisting of both the physically visible (dominant) and the non-expressed (recessive) alleles, is called its genotype. Mendel’s hybridization experiments demonstrate the difference between phenotype and genotype. For example, the phenotypes that Mendel observed in his crosses between pea plants with differing traits are connected to the diploid genotypes of the plants in the P, F1, and F2 generations. We will use a second trait that Mendel investigated, seed color, as an example. Seed color is governed by a single gene with two versions of alleles. The yellow-seed allele is dominant and the green-seed allele is recessive. When true-breeding plants were cross-fertilized, in which one parent had yellow seeds and one had green seeds, all of the F1 hybrid offspring had yellow seeds. That is, the hybrid offspring were phenotypically identical to the true-breeding parent with yellow seeds. However, we know that the allele donated by the parent with green seeds was not simply lost, because it reappeared in some of the F2 offspring (Figure 9.5). Therefore, the F1 plants must have been genotypically different from the parent with yellow seeds.

The P plants that Mendel used in his experiments were each homozygous for the trait he was studying. Diploid organisms that are homozygous for a gene have two identical alleles, one on each of their homologous chromosomes. The genotype is often written as YY or yy, for which each letter represents one of the two alleles in the genotype. The dominant allele is capitalized and the recessive allele is lower case. The letter used for the gene (seed color in this case) is usually related to the dominant trait (yellow allele, in this case, or “Y”). Mendel’s parental pea plants always bred true because both produced gametes carried the same allele. When P plants with contrasting traits were cross-fertilized, all of the offspring were heterozygous for the contrasting trait, meaning their genotype had two different alleles for the gene being examined. For example, the F1 yellow plants that received a Y allele from their yellow parent and a y allele from their green parent had the genotype Yy (heterozygous).

A graphic with 2 columns, the first with the heading “Phenotype” and the second with the heading “Genotype.” In the phenotype column, one yellow pea plant cross-fertilizes with one green pea plant. The first generation of offspring is 100 percent yellow pea plants. After self-fertilization of these yellow pea offspring, 75 percent of the second generation offspring have yellow peas and 25 percent have green peas. The genotype column shows the first generation offspring as 100 percent Yy, and the second generation as 25 percent YY, 50 percent Yy, and 25 percent yy.
Figure 9.5 Phenotypes are physical expressions of traits that are transmitted by alleles. Capital letters represent dominant alleles and lowercase letters represent recessive alleles. The phenotypic ratios are the ratios of visible characteristics. The genotypic ratios are the ratios of gene combinations in the offspring, and these are not always distinguishable in the phenotypes.

Law of Dominance

Our discussion of homozygous and heterozygous organisms brings us to why the F1 heterozygous offspring were identical to one of the parents, rather than expressing both alleles. In all seven pea-plant characteristics, one of the two contrasting alleles was dominant, and the other was recessive. Mendel called the dominant allele the “expressed unit factor”; the recessive allele was referred to as the “latent unit factor.” We now know that these so-called unit factors are actually genes on homologous chromosomes. For a gene that is expressed in a dominant and recessive pattern, homozygous dominant and heterozygous organisms will look identical (that is, they will have different genotypes but the same phenotype), and the traits of the recessive allele will only be observed in homozygous recessive individuals (Table 8.1).

Homozygous Heterozygous Homozygous
Genotype YY Yy yy
Phenotype yellow yellow green
Table 8.1  Correspondence between Genotype and Phenotype for a Dominant-Recessive Characteristic.

To summarize, Mendel’s law of dominance states that in a heterozygote, one trait will conceal the presence of another trait for the same characteristic. For example, when crossing true-breeding violet-flowered plants with true-breeding white-flowered plants, all of the offspring were violet-flowered, even though they all had one allele for violet and one allele for white. Rather than both alleles contributing to a phenotype, the dominant allele will be expressed exclusively. The recessive allele will remain latent, but will be transmitted to offspring in the same manner as that by which the dominant allele is transmitted. The recessive trait will only be expressed by offspring that have two copies of this allele (Figure 9.6), and these offspring will breed true when self-crossed.

Photo shows a mother with an albino child.
Figure 9.6 The allele for albinism, expressed here in humans, is recessive. Both of this child’s parents carried the recessive allele. The parents were heterozygous, as they did not express the trait. The child is homozygous recessive.

Monohybrid Cross and the Punnett Square

When fertilization occurs between two true-breeding parents that differ by only the characteristic being studied, the process is called a monohybrid cross, and the resulting offspring are called monohybrids. Mendel performed seven types of monohybrid crosses, each involving contrasting traits for different characteristics. Out of these crosses, all of the F1 offspring had the phenotype of one parent, and the F2 offspring had a 3:1 phenotypic ratio. On the basis of these results, Mendel postulated that each parent in the monohybrid cross contributed one of two paired unit factors to each offspring, and every possible combination of unit factors was equally likely.

The results of Mendel’s research can be explained in terms of probabilities, which are mathematical measures of likelihood. The probability of an event is calculated by the number of times the event occurs divided by the total number of opportunities for the event to occur. A probability of one (100 percent) for some event indicates that it is guaranteed to occur, whereas a probability of zero (0 percent) indicates that it is guaranteed to not occur, and a probability of 0.5 (50 percent) means it has an equal chance of occurring or not occurring.

To demonstrate this with a monohybrid cross, consider the case of true-breeding pea plants with yellow versus green seeds. The dominant seed color is yellow; therefore, the parental genotypes were YY for the plants with yellow seeds and yy for the plants with green seeds. A Punnett square, devised by the British geneticist Reginald Punnett, is useful for determining probabilities because it is drawn to predict all possible outcomes of all possible random fertilization events and their expected frequencies. Figure 9.7 shows a Punnett square for a cross between a plant with yellow peas and one with green peas. To prepare a Punnett square, all possible combinations of the parental alleles (the genotypes of the gametes) are listed along the top (for one parent) and side (for the other parent) of a grid. The combinations of egg and sperm gametes are then made in the boxes in the table on the basis of which alleles are combining. Each box then represents the diploid genotype of a zygote, or fertilized egg. Because each possibility is equally likely, genotypic ratios can be determined from a Punnett square. If the pattern of inheritance (dominant and recessive) is known, the phenotypic ratios can be inferred as well. For a monohybrid cross of two true-breeding parents, each parent contributes one type of allele. In this case, only one genotype is possible in the F1 offspring. All offspring are Yy (heterozygous) and have yellow seeds.

When the F1 offspring are crossed with each other, each has an equal probability of contributing either a Y or a y to the F2 offspring. The result is a 1 in 4 (25 percent) probability of both parents contributing a Y, resulting in an offspring with a yellow phenotype; a 25 percent probability of parent A contributing a Y and parent B a y, resulting in offspring with a yellow phenotype; a 25 percent probability of parent A contributing a y and parent B a Y, also resulting in a yellow phenotype; and a (25 percent) probability of both parents contributing a y, resulting in a green phenotype. When counting all four possible outcomes, there is a 3 in 4 probability of offspring having the yellow phenotype and a 1 in 4 probability of offspring having the green phenotype. This explains why the results of Mendel’s F2 generation occurred in a 3:1 phenotypic ratio. Using large numbers of crosses, Mendel was able to calculate probabilities, found that they fit the model of inheritance, and use these to predict the outcomes of other crosses.

This illustration shows a monohybrid cross. In the P generation, one parent has a dominant yellow phenotype and the genotype YY, and the other parent has the recessive green phenotype and the genotype yy. Each parent produces one kind of gamete, resulting in an F_{1} generation with a dominant yellow phenotype and the genotype Yy. Self-pollination of the F_{1} generation results in an F_{2} generation with a 3 to 1 ratio of yellow to green peas. One out of three of the yellow pea plants has a dominant genotype of YY, and 2 out of 3 has the heterozygous genotype Yy. The homozygous recessive plant has the green phenotype and the genotype yy.
Figure 9.7 This Punnett square shows the cross between plants with yellow seeds and green seeds. The cross between the true-breeding P plants produces F1 heterozygotes that can be self-fertilized. The self-cross of the F1 generation can be analyzed with a Punnett square to predict the genotypes of the F2 generation. Given an inheritance pattern of dominant–recessive, the genotypic and phenotypic ratios can then be determined.

 

Law of Segregation

Observing that true-breeding pea plants with contrasting traits gave rise to F1 generations that all expressed the dominant trait and F2 generations that expressed the dominant and recessive traits in a 3:1 ratio, Mendel proposed the law of segregation. This law states that paired unit factors (what we now call genes) must segregate equally into gametes such that offspring have an equal likelihood of inheriting either factor (gene). For the F2 generation of a monohybrid cross, the following three possible combinations of genotypes result: homozygous dominant, heterozygous, or homozygous recessive. Because heterozygotes could arise from two different pathways (receiving one dominant and one recessive allele from either parent), and because heterozygotes and homozygous dominant individuals are phenotypically identical, the law supports Mendel’s observed 3:1 phenotypic ratio. The equal segregation of alleles (that each parent passes one of its two genes for each trait to its offspring) is the reason we can apply the Punnett square to accurately predict the offspring of parents with known genotypes. The physical basis of Mendel’s law of segregation is the first division of meiosis (meiosis I) in which the homologous chromosomes with their different versions of each gene are segregated into daughter nuclei. This process was not understood by the scientific community during Mendel’s lifetime (Figure 9.8).

Homologous pairs of chromosomes line up at the metaphase plate during metaphase I of meiosis. The homologous chromosomes with their different versions of each gene are segregated into daughter nuclei.
Figure 9.8 The first division in meiosis is shown.

Test Cross

Beyond predicting the offspring of a cross between known homozygous or heterozygous parents, Mendel also developed a way to determine whether an organism that expressed a dominant trait was a heterozygote or a homozygote. Called the test cross, this technique is still used by plant and animal breeders. In a test cross, the dominant-expressing organism (which would be either YY or Yy) is crossed with an organism that is homozygous recessive (yy) for the same characteristic. If the dominant-expressing organism is a homozygote (YY), then all F1 offspring will be heterozygotes expressing the dominant trait (Figure 9.9). Alternatively, if the dominant-expressing organism is a heterozygote (Yy), the F1 offspring will exhibit a 1:1 ratio of heterozygotes and recessive homozygotes (Figure 9.9). The test cross further validates Mendel’s postulate that pairs of unit factors segregate equally.

In a test cross, a parent with a dominant phenotype but unknown genotype is crossed with a recessive parent. If the parent with the unknown phenotype is homozygous dominant, all the resulting offspring will have at least one dominant allele. If the parent with the unknown phenotype is heterozygous, 50 percent of the offspring will inherit a recessive allele from both parents and will have the recessive phenotype.
Figure 9.9 A test cross can be performed to determine whether an organism expressing a dominant trait is a homozygote or a heterozygote.

Law of Independent Assortment

Mendel’s law of independent assortment states that genes do not influence each other with the sorting of alleles into gametes, and every possible combination of alleles for every gene is equally likely to occur (RRYY, RRYy, RRyy, RrYY, RrYy, Rryy, rrYY, rrYy, rryy). Independent assortment of genes can be illustrated by the dihybrid cross, a cross between two true-breeding parents that express different traits for two characteristics. Consider the characteristics of seed color (Y0 and seed texture (R) for two pea plants, one that has wrinkled, green seeds (rryy) and another that has round, yellow seeds (RRYY). Because each parent is homozygous, the law of segregation indicates that the gametes for the wrinkled–green plant all are ry, and the gametes for the round–yellow plant are all RY. Therefore, the F1 generation of offspring all are RrYy (Figure 9.10).

This illustration shows a dihybrid cross between pea plants. In the P generation, a plant that has the homozygous dominant phenotype of yellow, round peas is crossed with a plant with the homozygous recessive phenotype of green, wrinkled peas. The resulting F_{1} offspring have a heterozygous genotype and yellow, round peas. Self-pollination of the F_{1} generation results in F_{2} offspring with a phenotypic ratio of 9:3:3:1 for round–yellow, round–green, wrinkled–yellow, and wrinkled–green peas, respectively.
Figure 9.10 A dihybrid cross in pea plants involves the genes for seed color and texture. The P cross produces F1 offspring that are all heterozygous for both characteristics. The resulting 9:3:3:1 F2 phenotypic ratio is obtained using a Punnett square.

The gametes produced by the F1 individuals must have one allele from each of the two genes. For example, a gamete could get an R allele for the seed shape gene and either a Y or a y allele for the seed color gene. It cannot get both an R and an r allele; each gamete can have only one allele per gene. The law of independent assortment states that a gamete into which an r allele is sorted would be equally likely to contain either a Y or a y allele. Thus, there are four equally likely gametes that can be formed when the RrYy heterozygote is self-crossed, as follows: RY, rY, Ry, and ry. Arranging these gametes along the top and left of a 4 × 4 Punnett square (Figure 9.10) gives us 16 equally likely genotypic combinations. From these genotypes, we find a phenotypic ratio of 9 round–yellow:3 round–green:3 wrinkled–yellow:1 wrinkled–green (Figure 9.10). These are the offspring ratios we would expect, assuming we performed the crosses with a large enough sample size.

The physical basis for the law of independent assortment also lies in meiosis I, in which the different homologous pairs line up in random orientations. Each gamete can contain any combination of paternal and maternal chromosomes (and therefore the genes on them) because the orientation of tetrads on the metaphase plane is random (Figure 9.11).

Homologous pairs of chromosomes line up at the metaphase plate during metaphase I of meiosis. The homologous chromosomes, with their different versions of each gene, are randomly segregated into daughter nuclei, resulting in a variety of possible genetic arrangements.
Figure 9.11 The random segregation into daughter nuclei that happens during the first division in meiosis can lead to a variety of possible genetic arrangements.

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