Introduction

Gregor Mendel knew how to keep things simple. In Mendel's work on pea

plants, each gene came in just two different versions, or alleles, and these
alleles had a nice, clear-cut dominance relationship (with the dominant allele
fully overriding the recessive allele to determine the plant's appearance).

Today, we know that not all alleles behave quite as straightforwardly as in

Mendel’s experiments. For example, in real life:

 Allele pairs may have a variety of dominance relationships (that is, one
allele of the pair may not completely “hide” the other in the heterozygote).

 There are often many different alleles of a gene in a population.

In these cases, an organism's genotype, or set of alleles, still determines

its phenotype, or observable features. However, a variety of alleles may
interact with one another in different ways to specify phenotype.

As a side note, we're probably lucky that Mendel's pea genes didn't show
these complexities. If they had, it’s possible that Mendel would not have
understood his results, and wouldn't have figured out the core principles of
inheritance—which are key in helping us understand the special cases!

Incomplete dominance
Mendel’s results were groundbreaking partly because they contradicted the
(then-popular) idea that parents' traits were permanently blended in their
offspring. In some cases, however, the phenotype of a heterozygous
organism can actually be a blend between the phenotypes of its homozygous
parents.
For example, in the snapdragon, Antirrhinum majus, a cross between a
homozygous white-flowered plant (C^WC^WCWCWC, start superscript, W,
end superscript, C, start superscript, W, end superscript) and a homozygous
red-flowered plant (C^RC^RCRCRC, start superscript, R, end superscript, C,
start superscript, R, end superscript) will produce offspring with pink flowers
(C^RC^WCRCWC, start superscript, R, end superscript, C, start superscript,
W, end superscript). This type of relationship between alleles, with a
heterozygote phenotype intermediate between the two homozygote
phenotypes, is called incomplete dominance.

Examples of Incomplete
Dominance
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Incomplete dominance is an important concept in the study of genetics. It refers to a circumstance in

which the two copies of a gene for a particular trait, or alleles, combine so that neither dominates the
other. This creates a new phenotype or set of observable characteristics caused by the interaction of
genetics and environment. In short, incomplete dominance is when neither gene is fully dominant,
and the result is a brand new trait.
Codominance is a similar yet different phenomenon. While in incomplete dominance, neither allele is
dominant, in codominance, both alleles are. As a result, codominant traits are expressed equally in
the phenotype; that is, the result is a combination of the two traits. That differs from incomplete
dominance, in which the result is something new, as the examples of incomplete dominance below
demonstrate.

Observing Incomplete Dominance

It's important to note that most observable traits in any living thing are caused by more than one
gene. Incomplete dominance is specific to traits that occur on just one gene. However, there are many
such traits, and incomplete dominance occurs in every sort of organism that has genes, including
plants, animals and even human beings.
Incomplete Dominance in Animals
Incomplete dominance in animals is most widely studied in domestic animals since it's important for
their health, appearance, and value. Here are several examples of the effects of incomplete
dominance in animals:
 Chickens with blue feathers are an example of incomplete dominance. When a black and a
white chicken reproduce and neither allele is completely dominant, the result is a blue-feathered
bird.
 When a long-furred Angora rabbit and a short-furred Rex rabbit reproduce, the result can be a
rabbit with fur longer than a Rex, but shorter than an Angora. That's a classic example of
incomplete dominance producing a trait different from either of the parents.
 Tail length in dogs is often determined by incomplete dominance. Pups of long-tailed and
short-tailed parents often split the difference and have medium-length tails.
 On the subject of dogs, lots of labradoodles have wavy hair. Just like humans, that comes
from having straight-haired and curly-haired parents. The result is an intermediate inheritance:
the wavy-haired labradoodle.
 The cream gene in horses is a classic incomplete dominant. When paired with a red allele, the
cream allele produces horses with golden coats such as palominos and buckskins.
Incomplete Dominance in Plants
The science of genetics began with plants. People have been interbreeding plants for particular traits
since we first started farming more than 11,000 years ago. Gregor Mendel, one of the founders of
genetic science, began his studies by recording the ways he planted his garden. Whether for food,
other uses, or simple beauty, humans have employed genetic selection of plants, including
incomplete dominance, throughout our history.
 Incomplete dominance was first recorded in plants. The German scientist Josef Kolreuter
bred red and white carnations, expecting to get offspring with the dominant red coloration.
Instead, many came up pink! Kolreuter found that neither allele was fully dominant in his
flowers and identified the concept of incomplete dominance.
 Four-o-clocks are flowering plants that get their funny name from their inclination to bloom
in the late afternoon. Wild four-o-clocks tend to have red flowers, while "pure" four-o-clocks
with no coloration genes are white. Mixing the two results in pink flowers, just like Dr.
Kolreuter's carnations. Those pink flowers are a result of incomplete dominance. However,
mixing the pink flowers results in ¼ red, ¼ white and ½ pink. That 1:2:1 ratio - a quarter like
one parent, a quarter like the other, and the remaining half different from either - is common in
cases of incomplete dominance.
 Pink snapdragons are a result of incomplete dominance. Cross-pollination between red
snapdragons and white snapdragons result in pink when neither the white or the red alleles are
dominant.
 The fruit color of eggplants is another example of incomplete dominance. Combining deep
purple eggplants with white eggplants results in eggplants of a light violet color.
 Incomplete dominance is a key element of improving crops such as corn. Corn with multiple
incompletely dominant traits is generally healthier and provides greater yields than "purer"
strains with fewer such traits. Just compare the original plant, teosinte, with a modern ear of corn
to see the genetic difference!
Incomplete Dominance in Humans
Incomplete dominance is rare in humans; we're genetically complex and most of our traits come from
multiple genes. However, there are a few examples. Incomplete dominance is just part of what makes
our species so complicated and interesting.
 The disease familial hypercholesterolemia (FH) is an example of incomplete dominance. One
allele causes liver cells to be generated without cholesterol receptors, while another causes them
to be generated normally. The incomplete dominance causes the generation of cells that do not
have enough receptors to remove all dangerous cholesterol from the bloodstream.
 Tay-Sachs Disease is an example of incomplete dominance in humans. This neurological
disease is caused by an enzyme imbalance and is autosomal recessive; that is, people who
actually suffer from the disease have two recessive genes that cause it. However, one or both of
their parents may have been carriers who had incompletely dominant genes, causing them to
produce one half of the necessary enzyme, which is enough for a normal life.
 When one parent with straight hair and one with curly hair have a child with wavy hair, that's
an example of incomplete dominance.
 Eye color is often cited as an example of incomplete dominance. In fact, it's a little more
complicated than that, but hazel eyes are partially caused by incomplete dominance of multiple
genes related to green and brown eye color.

Laws of Inheritance

Mendel’s Laws of Heredity

Mendel formed the Laws of Heredity (the Law of Segregation and the Law of
Independent Assortment) from his pea plant experiments.

LEARNING OBJECTIVES

Discuss the methods Mendel utilized in his research that led to his success in understanding the
process of inheritance

KEY TAKEAWAYS

Key Points

 By crossing purple and white pea plants, Mendel found the offspring were purple rather
than mixed, indicating one color was dominant over the other.
  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.
 If the two alleles are identical, the individual is called homozygous for the trait; if the two
alleles are different, the individual is called heterozygous.
 Mendel cross-bred dihybrids and found that traits were inherited independently of each
other.

Key Terms

 homozygous: of an organism in which both copies of a given gene have the same allele
 heterozygous: of an organism which has two different alleles of a given gene
 allele: one of a number of alternative forms of the same gene occupying a given position
on a chromosome

Introduction

Mendelian inheritance (or Mendelian genetics or Mendelism) is a set of primary tenets

relating to the transmission of hereditary characteristics from parent organisms to their
children; it underlies much of genetics. The tenets were initially derived from the work of
Gregor Mendel published in 1865 and 1866, which was “re-discovered” in 1900; they
were initially very controversial, but they soon became the core of classical genetics.

The laws of inheritance were derived by Gregor Mendel, a 19th century monk
conducting hybridization experiments in garden peas (Pisum sativum). Between 1856
and 1863, he cultivated and tested some 28,000 pea plants. From these experiments,
he deduced two generalizations that later became known as Mendel’s Laws of Heredity
or Mendelian inheritance. He described these laws in a two part paper, “Experiments on
Plant Hybridization”, which was published in 1866.

Mendel’s Laws

Mendel discovered that by crossing true-breeding white flower and true-breeding purple
flower plants, the result was a hybrid offspring. Rather than being a mix of the two
colors, the offspring was purple flowered. He then conceived the idea of heredity units,
which he called “factors”, one of which is a recessive characteristic and the other
dominant. Mendel said that factors, later called genes, normally occur in pairs in
ordinary body cells, yet segregate during the formation of sex cells. Each member of the
pair becomes part of the separate sex cell. The dominant gene, such as the purple
flower in Mendel’s plants, will hide the recessive gene, the white flower. After Mendel
self-fertilized the F1 generation and obtained an F2 generation with a 3:1 ratio, he
correctly theorized that genes can be paired in three different ways for each trait: AA,
aa, and Aa. The capital A represents the dominant factor while the lowercase a
represents the recessive.
Mendel’s Pea Plants: In one of his experiments on inheritance patterns, Mendel crossed plants that were true-
breeding for violet flower color with plants true-breeding for white flower color (the P generation). The resulting
hybrids in the F1 generation all had violet flowers. In the F2 generation, approximately three-quarters of the
plants had violet flowers, and one-quarter had white flowers.

Mendel stated that each individual has two alleles for each trait, one from each parent.
Thus, he formed the “first rule”, the Law of Segregation, which states individuals
possess two alleles and a parent passes only one allele to his/her offspring. One allele
is given by the female parent and the other is given by the male parent. The two factors
may or may not contain the same information. If the two alleles are identical, the
individual is called homozygous for the trait. If the two alleles are different, the individual
is called heterozygous. The presence of an allele does not promise that the trait will be
expressed in the individual that possesses it. In heterozygous individuals, the only allele
that is expressed is the dominant. The recessive allele is present, but its expression is
hidden. The genotype of an individual is made up of the many alleles it possesses. An
individual’s physical appearance, or phenotype, is determined by its alleles as well as
by its environment.

Mendel also analyzed the pattern of inheritance of seven pairs of contrasting traits in the
domestic pea plant. He did this by cross-breeding dihybrids; that is, plants that were
heterozygous for the alleles controlling two different traits. Mendel then crossed these
dihybrids. If it is inevitable that round seeds must always be yellow and wrinkled seeds
must be green, then he would have expected that this would produce a typical
monohybrid cross: 75 percent round-yellow; 25 percent wrinkled-green. But, in fact, his
mating generated seeds that showed all possible combinations of the color and texture
traits. He found 9/16 of the offspring were round-yellow, 3/16 were round-green, 3/16
were wrinkled-yellow, and 1/16 were wrinkled-green. Finding in every case that each of
his seven traits was inherited independently of the others, he formed his “second rule”,
the Law of Independent Assortment, which states the inheritance of one pair of factors
(genes) is independent of the inheritance of the other pair. Today we know that this rule
holds only if the genes are on separate chromosomes

Mendel’s Law of Dominance

In a heterozygote, the allele which masks the other is referred to as dominant, while the
allele that is masked is referred to as recessive.

LEARNING OBJECTIVES

Explain the concept of dominance versus recessiveness

 KEY TAKEAWAYS

Key Points

 Dominant alleles are expressed exclusively in a heterozygote, while recessive traits are
expressed only if the organism is homozygous for the recessive allele.
 A single allele may be dominant over one allele, but recessive to another.
 Not all traits are controlled by simple dominance as a form of inheritance; more complex
forms of inheritance have been found to exist.

Key Terms

 dominant: a relationship between alleles of a gene, in which one allele masks the
expression (phenotype) of another allele at the same locus
 recessive: able to be covered up by a dominant trait

Alleles Can Be Dominant or Recessive

Most familiar animals and some plants have paired chromosomes and are described as
diploid. They have two versions of each chromosome: one contributed by the female
parent in her ovum and one by the male parent in his sperm. These are joined at
fertilization. The ovum and sperm cells (the gametes) have only one copy of each
chromosome and are described as haploid.
Recessive traits are only visible if an individual inherits two copies of the recessive allele : The child in
the photo expresses albinism, a recessive trait.

Mendel’s law of dominance states that in a heterozygote, one trait will conceal the
presence of another trait for the same characteristic. 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 by the same
manner in which the dominant allele is transmitted. The recessive trait will only be
expressed by offspring that have two copies of this allele; these offspring will breed true
when self-crossed.

By definition, the terms dominant and recessive refer to the genotypic interaction of
alleles in producing the phenotype of the heterozygote. The key concept is genetic:
which of the two alleles present in the heterozygote is expressed, such that the
organism is phenotypically identical to one of the two homozygotes. It is sometimes
convenient to talk about the trait corresponding to the dominant allele as the dominant
trait and the trait corresponding to the hidden allele as the recessive trait. However, this
can easily lead to confusion in understanding the concept as phenotypic. For example,
to say that “green peas” dominate “yellow peas” confuses inherited genotypes and
expressed phenotypes. This will subsequently confuse discussion of the molecular
basis of the phenotypic difference. Dominance is not inherent. One allele can be
dominant to a second allele, recessive to a third allele, and codominant to a fourth. If a
genetic trait is recessive, a person needs to inherit two copies of the gene for the trait to
be expressed. Thus, both parents have to be carriers of a recessive trait in order for a
child to express that trait.

Since Mendel’s experiments with pea plants, other researchers have found that the law
of dominance does not always hold true. Instead, several different patterns of
inheritance have been found to exist.

Mendel’s Law of Segregation

Mendel’s Law of Segregation states that a diploid organism passes a randomly selected
allele for a trait to its offspring, such that the offspring receives one allele from each
parent.

LEARNING OBJECTIVES

Apply the law of segregation to determine the chances of a particular genotype arising from a
genetic cross

KEY TAKEAWAYS

Key Points

 Each gamete acquires one of the two alleles as chromosomes separate into different
gametes during meiosis.
 Heterozygotes, which posess one dominant and one recessive allele, can receive each
allele from either parent and will look identical to homozygous dominant individuals; the
Law of Segregation supports Mendel’s observed 3:1 phenotypic ratio.
 Mendel proposed the Law of Segregation after observing that pea plants with two
different traits produced offspring that all expressed the dominant trait, but the following
generation expressed the dominant and recessive traits in a 3:1 ratio.

Key Terms

 law of segregation: a diploid individual possesses a pair of alleles for any particular trait
and each parent passes one of these randomly to its offspring
Equal Segregation of Alleles

Observing that true-breeding pea plants with contrasting traits gave rise to
F1 generations that all expressed the dominant trait and F 2 generations that expressed
the dominant and recessive traits in a 3:1 ratio, Mendel proposed the law of
segregation. The law of segregation states that each individual that is a diploid has a
pair of alleles (copy) for a particular trait. Each parent passes an allele at random to
their offspring resulting in a diploid organism. The allele that contains the dominant trait
determines the phenotype of the offspring. In essence, the law states that copies of
genes separate or segregate so that each gamete receives only one allele.
The Law of Segregation states that alleles segregate randomly into gametes: When gametes are formed,
each allele of one parent segregates randomly into the gametes, such that half of the parent’s gametes carry
each allele.
For the F2 generation of a monohybrid cross, the following three possible combinations
of genotypes could 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 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 in which
the homologous chromosomes with their different versions of each gene are segregated
into daughter nuclei. The behavior of homologous chromosomes during meiosis can
account for the segregation of the alleles at each genetic locus to different gametes. As
chromosomes separate into different gametes during meiosis, the two different alleles
for a particular gene also segregate so that each gamete acquires one of the two
alleles. In Mendel’s experiments, the segregation and the independent assortment
during meiosis in the F1 generation give rise to the F2 phenotypic ratios observed by
Mendel. The role of the meiotic segregation of chromosomes in sexual reproduction
was not understood by the scientific community during Mendel’s lifetime.

Mendel’s Law of Independent Assortment

Independent assortment allows the calculation of genotypic and phenotypic ratios based
on the probability of individual gene combinations.

LEARNING OBJECTIVES

Use the probability or forked line method to calculate the chance of any particular genotype
arising from a genetic cross

KEY TAKEAWAYS

Key Points

 Mendel’s law of independent assortment states that genes do not influence each other
with regard to the sorting of alleles into gametes; every possible combination of alleles for
every gene is equally likely to occur.
 The calculation of any particular genotypic combination of more than one gene is,
therefore, the probability of the desired genotype at the first locus multiplied by the
probability of the desired genotype at the other loci.
 The forked line method can be used to calculate the chances of all possible genotypic
combinations from a cross, while the probability method can be used to calculate the
chance of any one particular genotype that might result from that cross.

Key Terms

 independent assortment: separate genes for separate traits are passed independently
of one another from parents to offspring
Independent Assortment

Mendel’s law of independent assortment states that genes do not influence each other
with regard to the sorting of alleles into gametes: every possible combination of alleles
for every gene is equally likely to occur. The 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 and
seed texture for two pea plants: one that has green, wrinkled seeds (yyrr) and another
that has yellow, round seeds (YYRR). Because each parent is homozygous, the law of
segregation indicates that the gametes for the green/wrinkled plant all are yr, while the
gametes for the yellow/round plant are all YR. Therefore, the F 1 generation of offspring
all are YyRr.

For the F2 generation, the law of segregation requires that each gamete receive either
an R allele or an r allele along with either a Y allele or a y allele. The law of independent
assortment states that a gamete into which an r allele sorted would be equally likely to
contain either a Y allele or a y allele. Thus, there are four equally likely gametes that
can be formed when the YyRr heterozygote is self-crossed as follows: YR, Yr, yR, and
yr. Arranging these gametes along the top and left of a 4 × 4 Punnett square gives us
16 equally likely genotypic combinations. From these genotypes, we infer a phenotypic
ratio of 9 round/yellow:3 round/green:3 wrinkled/yellow:1 wrinkled/green. These are the
offspring ratios we would expect, assuming we performed the crosses with a large
enough sample size.
Independent assortment of 2 genes: This dihybrid cross of pea plants involves the genes for seed color and
texture.
Because of independent assortment and dominance, the 9:3:3:1 dihybrid phenotypic
ratio can be collapsed into two 3:1 ratios, characteristic of any monohybrid cross that
follows a dominant and recessive pattern. Ignoring seed color and considering only
seed texture in the above dihybrid cross, we would expect that three-quarters of the
F2 generation offspring would be round and one-quarter would be wrinkled. Similarly,
isolating only seed color, we would assume that three-quarters of the F 2 offspring would
be yellow and one-quarter would be green. The sorting of alleles for texture and color
are independent events, so we can apply the product rule. Therefore, the proportion of
round and yellow F2 offspring is expected to be (3/4) × (3/4) = 9/16, and the proportion
of wrinkled and green offspring is expected to be (1/4) × (1/4) = 1/16. These proportions
are identical to those obtained using a Punnett square. Round/green and
wrinkled/yellow offspring can also be calculated using the product rule as each of these
genotypes includes one dominant and one recessive phenotype. Therefore, the
proportion of each is calculated as (3/4) × (1/4) = 3/16.

Forked-Line Method

When more than two genes are being considered, the Punnett-square method becomes
unwieldy. For instance, examining a cross involving four genes would require a 16 × 16
grid containing 256 boxes. It would be extremely cumbersome to manually enter each
genotype. For more complex crosses, the forked-line and probability methods are
preferred.

To prepare a forked-line diagram for a cross between F 1 heterozygotes resulting from a

cross between AABBCC and aabbcc parents, we first create rows equal to the number
of genes being considered and then segregate the alleles in each row on forked lines
according to the probabilities for individual monohybrid crosses. We then multiply the
values along each forked path to obtain the F2 offspring probabilities. Note that this
process is a diagrammatic version of the product rule. The values along each forked
pathway can be multiplied because each gene assorts independently. For a trihybrid
cross, the F2 phenotypic ratio is 27:9:9:9:3:3:3:1.

Independent assortment of 3 genes: The forked-line method can be used to analyze a trihybrid cross. Here,
the probability for color in the F2 generation occupies the top row (3 yellow:1 green). The probability for shape
occupies the second row (3 round:1 wrinked), and the probability for height occupies the third row (3 tall:1
dwarf). The probability for each possible combination of traits is calculated by multiplying the probability for
each individual trait. Thus, the probability of F2 offspring having yellow, round, and tall traits is 3 × 3 × 3, or 27.

Probability Method

While the forked-line method is a diagrammatic approach to keeping track of

probabilities in a cross, the probability method gives the proportions of offspring
expected to exhibit each phenotype (or genotype) without the added visual assistance.

To fully demonstrate the power of the probability method, however, we can consider
specific genetic calculations. For instance, for a tetrahybrid cross between individuals
that are heterozygotes for all four genes, and in which all four genes are sorting
independently in a dominant and recessive pattern, what proportion of the offspring will
be expected to be homozygous recessive for all four alleles? Rather than writing out
every possible genotype, we can use the probability method. We know that for each
gene the fraction of homozygous recessive offspring will be 1/4. Therefore, multiplying
this fraction for each of the four genes, (1/4) × (1/4) × (1/4) × (1/4), we determine that
1/256 of the offspring will be quadruply homozygous recessive.

Genetic Linkage and Violation of the Law of Independent Assortment

Genes that are on the same chromosome, or “linked”, do not assort independently, but
can be separated by recombination.

LEARNING OBJECTIVES

Describe how recombination can separate linked genes

KEY TAKEAWAYS

Key Points

 Two genes close together on the same chromosome tend to be inherited together and
are said to be linked.
 Linked genes can be separated by recombination in which homologous chromosomes
exchange genetic information during meiosis; this results in parental, or nonrecombinant
genotypes, as well as a smaller proportion of recombinant genotypes.
 Geneticists can use the amount of recombination between genes to estimate the
distance between them on a chromosome.

Key Terms

 linkage: the property of genes of being inherited together

 recombination: the formation of genetic combinations in offspring that are not present in
the parents

Linked Genes Violate the Law of Independent Assortment

Although all of Mendel’s pea characteristics behaved according to the law of

independent assortment, we now know that some allele combinations are not inherited
independently of each other. Genes that are located on separate non-homologous
chromosomes will always sort independently. However, each chromosome contains
hundreds or thousands of genes organized linearly on chromosomes like beads on a
string. The segregation of alleles into gametes can be influenced by linkage, in which
genes that are located physically close to each other on the same chromosome are
more likely to be inherited as a pair. However, because of the process of recombination,
or “crossover,” it is possible for two genes on the same chromosome to behave
independently, or as if they are not linked. To understand this, let’s consider the
biological basis of gene linkage and recombination.

Unlinked genes assort independently: This figure shows all possible combinations of offspring resulting from
a dihybrid cross of pea plants that are heterozygous for the tall/dwarf and inflated/constricted alleles.

Homologous chromosomes possess the same genes in the same linear order. The
alleles may differ on homologous chromosome pairs, but the genes to which they
correspond do not. In preparation for the first division of meiosis, homologous
chromosomes replicate and synapse. Like genes on the homologs align with each
other. At this stage, segments of homologous chromosomes exchange linear segments
of genetic material. This process is called recombination, or crossover, and it is a
common genetic process. Because the genes are aligned during recombination, the
gene order is not altered. Instead, the result of recombination is that maternal and
paternal alleles are combined onto the same chromosome. Across a given
chromosome, several recombination events may occur, causing extensive shuffling of
alleles.
Linked genes can be separated by recombination: The process of crossover, or recombination, occurs
when two homologous chromosomes align during meiosis and exchange a segment of genetic material. Here,
the alleles for gene C were exchanged. The result is two recombinant and two non-recombinant chromosomes.

When two genes are located in close proximity on the same chromosome, they are
considered linked, and their alleles tend to be transmitted through meiosis together. To
exemplify this, imagine a dihybrid cross involving flower color and plant height in which
the genes are next to each other on the chromosome. If one homologous chromosome
has alleles for tall plants and red flowers, and the other chromosome has genes for
short plants and yellow flowers, then when the gametes are formed, the tall and red
alleles will go together into a gamete and the short and yellow alleles will go into other
gametes. These are called the parental genotypes because they have been inherited
intact from the parents of the individual producing gametes. But unlike if the genes were
on different chromosomes, there will be no gametes with tall and yellow alleles and no
gametes with short and red alleles. If you create the Punnett square with these
gametes, you will see that the classical Mendelian prediction of a 9:3:3:1 outcome of a
dihybrid cross would not apply. As the distance between two genes increases, the
probability of one or more crossovers between them increases, and the genes behave
more like they are on separate chromosomes. Geneticists have used the proportion of
recombinant gametes (the ones not like the parents) as a measure of how far apart
genes are on a chromosome. Using this information, they have constructed elaborate
maps of genes on chromosomes for well-studied organisms, including humans.

Mendel’s seminal publication makes no mention of linkage, and many researchers have
questioned whether he encountered linkage, but chose not to publish those crosses out
of concern that they would invalidate his independent assortment postulate. The garden
pea has seven chromosomes and some have suggested that his choice of seven
characteristics was not a coincidence. However, even if the genes he examined were
not located on separate chromosomes, it is possible that he simply did not observe
linkage because of the extensive shuffling effects of recombination.

Epistasis

Epistasis occurs when one gene masks or interferes with the expression of another.

LEARNING OBJECTIVES

Explain the phenotypic outcomes of epistatic effects between genes

KEY TAKEAWAYS

Key Points

 In many cases, several genes may contribute to a particular phenotype; when the
actions of one gene masks the effects of another, this gene is said to be epistatic to the
second.
 Epistasis can occur when a recessive genotype masks the actions of another gene, or
when a dominant allele masks the effects of another gene.
 Epistasis can be reciprocal: either gene, when present in the dominant (or recessive)
form, expresses the same phenotype.
 Any single characteristic that results in a phenotypic ratio that totals 16 (such as 12:3:1,
9:3:4, or others) is typical of a two-gene interaction.

Key Terms

 epistasis: the modification of the expression of a gene by another unrelated one

Epistasis

Mendel’s studies in pea plants implied that the sum of an individual’s phenotype was
controlled by genes (or as he called them, unit factors): every characteristic was
distinctly and completely controlled by a single gene. In fact, single observable
characteristics are almost always under the influence of multiple genes (each with two
or more alleles) acting in unison. For example, at least eight genes contribute to eye
color in humans.

In some cases, several genes can contribute to aspects of a common phenotype

without their gene products ever directly interacting. In the case of organ development,
for instance, genes may be expressed sequentially, with each gene adding to the
complexity and specificity of the organ. Genes may function in complementary or
synergistic fashions: two or more genes need to be expressed simultaneously to affect
a phenotype. Genes may also oppose each other with one gene modifying the
expression of another.

In epistasis, the interaction between genes is antagonistic: one gene masks or

interferes with the expression of another. “Epistasis” is a word composed of Greek roots
that mean “standing upon.” The alleles that are being masked or silenced are said to be
hypostatic to the epistatic alleles that are doing the masking. Often the biochemical
basis of epistasis is a gene pathway in which the expression of one gene is dependent
on the function of a gene that precedes or follows it in the pathway.

An example of epistasis is pigmentation in mice. The wild-type coat color, agouti (AA), is
dominant to solid-colored fur (aa). However, a separate gene (C) is necessary for
pigment production. A mouse with a recessive c allele at this locus is unable to produce
pigment and is albino regardless of the allele present at locus A. Therefore, the
genotypes AAcc, Aacc, and aacc all produce the same albino phenotype. A cross
between heterozygotes for both genes (AaCc x AaCc) would generate offspring with a
phenotypic ratio of 9 agouti:3 solid color:4 albino. In this case, the C gene is epistatic to
the A gene.
Epistasis in mouse coat color: In mice, the mottled agouti coat color (A) is dominant to a solid coloration,
such as black or gray. A gene at a separate locus (C) is responsible for pigment production. The recessive c
allele does not produce pigmentnand a mouse with the homozygous recessive cc genotype is albino regardless
of the allele present at the A locus. Thus, the C gene is epistatic to the A gene.

Epistasis can also occur when a dominant allele masks expression at a separate gene.
Fruit color in summer squash is expressed in this way. Homozygous recessive
expression of the W gene (ww) coupled with homozygous dominant or heterozygous
expression of the Y gene (YY or Yy) generates yellow fruit, while the wwyy genotype
produces green fruit. However, if a dominant copy of the W gene is present in the
homozygous or heterozygous form, the summer squash will produce white fruit
regardless of the Y alleles. A cross between white heterozygotes for both genes (WwYy
× WwYy) would produce offspring with a phenotypic ratio of 12 white:3 yellow:1 green.

Finally, epistasis can be reciprocal: either gene, when present in the dominant (or
recessive) form, expresses the same phenotype. In the shepherd’s purse plant
(Capsella bursa-pastoris), the characteristic of seed shape is controlled by two genes in
a dominant epistatic relationship. When the genes A and B are both homozygous
recessive (aabb), the seeds are ovoid. If the dominant allele for either of these genes is
present, the result is triangular seeds. That is, every possible genotype other than aabb
results in triangular seeds; a cross between heterozygotes for both genes (AaBb x
AaBb) would yield offspring with a phenotypic ratio of 15 triangular:1 ovoid.

Keep in mind that any single characteristic that results in a phenotypic ratio that totals
16 is typical of a two-gene interaction. Recall the phenotypic inheritance pattern for
Mendel’s dihybrid cross, which considered two non-interacting genes: 9:3:3:1. Similarly,
we would expect interacting gene pairs to also exhibit ratios expressed as 16 parts.
Note that we are assuming the interacting genes are not linked; they are still assorting
independently into gametes.
 Diagram of a cross between C^WC^WCWCWC, start superscript, W, end
superscript, C, start superscript, W, end superscript (red) and C^RC^RCRCRC,
 start superscript, R, end superscript, C, start superscript, R, end
superscript (white) snapdragon plants. The F1 plants are pink and of
genotype C^RC^WCRCWC, start superscript, R, end superscript, C, start
superscript, W, end superscript.

We can still use Mendel's model to predict the results of crosses for alleles
that show incomplete dominance. For example, self-fertilization of a pink
plant would produce a genotype ratio of 111 C^RC^RCRCRC, start
superscript, R, end superscript, C, start superscript, R, end
superscript ::colon 222 C^RC^WCRCWC, start superscript, R, end superscript,
C, start superscript, W, end superscript ::colon 111 C^WC^WCWCWC, start
superscript, W, end superscript, C, start superscript, W, end superscript and a
phenotype ratio of 1:2:11:2:11, colon, 2, colon, 1 red:pink:white. Alleles are
still inherited according to Mendel's basic rules, even when they show
incomplete dominance.
 Self-fertilization of pink C^RC^WCRCWC, start superscript, R, end
superscript, C, start superscript, W, end superscript plants produce red, pink,
and white offspring in a ratio of 1:2:1.

Codominance
Closely related to incomplete dominance is codominance, in which both
alleles are simultaneously expressed in the heterozygote.

We can see an example of codominance in the MN blood groups of humans

(less famous than the ABO blood groups, but still important!). A person's
MN blood type is determined by his or her alleles of a certain gene.
An L^MLML, start superscript, M, end superscript allele specifies production
of an M marker displayed on the surface of red blood cells, while
an L^NLNL, start superscript, N, end superscript allele specifies production of
a slighly different N marker.

Homozygotes (L^ML^MLMLML, start superscript, M, end superscript, L, start

superscript, M, end superscript and L^NL^NLNLNL, start superscript, N, end
superscript, L, start superscript, N, end superscript) have only M or an N
markers, respectively, on the surface of their red blood cells. However,
heterozygotes (L^ML^NLMLNL, start superscript, M, end superscript, L, start
superscript, N, end superscript) have both types of markers in equal numbers
on the cell surface.

As for incomplete dominance, we can still use Mendel's rules to predict

inheritance of codominant alleles. For example, if two people
with L^ML^NLMLNL, start superscript, M, end superscript, L, start
superscript, N, end superscript genotypes had children, we would expect to
see M, MN, and N blood types and L^ML^MLMLML, start superscript, M,
 end superscript, L, start superscript, M, end superscript, L^ML^NLMLNL,
start superscript, M, end superscript, L, start superscript, N, end superscript,
and L^NL^NLNLNL, start superscript, N, end superscript, L, start superscript,
N, end superscript genotypes in their children in a 1:2:11:2:11, colon, 2,
colon, 1 ratio (if they had enough children for us to determine ratios
accurately!)

Multiple alleles
Mendel's work suggested that just two alleles existed for each gene. Today,
we know that's not always, or even usually, the case! Although individual
humans (and all diploid organisms) can only have two alleles for a given
gene, multiple alleles may exist in a population level, and different
individuals in the population may have different pairs of these alleles.

As an example, let’s consider a gene that specifies coat color in rabbits,

called the CCC gene. The CCC gene comes in four common
alleles: CCC, c^{ch}cchc, start superscript, c, h, end superscript, c^hchc, start
superscript, h, end superscript, and ccc:

 A CCCCC, C rabbit has black or brown fur

 A c^{ch}cchc, start superscript, c, h, end superscriptc^{ch}cchc,
start superscript, c, h, end superscript rabbit has chinchilla coloration (grayish
fur).
 A c^hc^hchchc, start superscript, h, end superscript, c, start
superscript, h, end superscript rabbit has Himalayan (color-point) patterning,
with a white body and dark ears, face, feet, and tail
 A ccccc, c rabbit is albino, with a pure white coat.
 Allelic series of the color gene C in rabbits.

 A CCCCC, C rabbit has black fur.

 A c^{ch}cchc, start superscript, c, h, end superscriptc^{ch}cchc, start
superscript, c, h, end superscript rabbit has chinchilla coloration (grayish fur).
 A c^hc^hchchc, start superscript, h, end superscript, c, start superscript,
h, end superscript rabbit has Himalayan (color-point) patterning, with a white
body and dark extremities.
 A ccccc, c rabbit is albino, with a pure white coat.
Image credit: "Characteristics and traits: Figure 5," by OpenStax College, Biology (CC BY 3.0).

Multiple alleles makes for many possible dominance relationships. In this

case, the black CCC allele is completely dominant to all the others; the
chinchilla c^{ch}cchc, start superscript, c, h, end superscript allele is
incompletely dominant to the Himalayan c^hchc, start superscript, h, end
superscript and albino ccc alleles; and the Himalayan c^hchc, start
superscript, h, end superscript allele is completely dominant to the
albino ccc allele.

Rabbit breeders figured out these relationships by crossing different rabbits

of different genotypes and observing the phenotypes of the heterozygous kits
(baby bunnies).