Alternatives to Dominance and Recessiveness

Mendel studied traits with only one mode of inheritance in pea plants. The inheritance of
the traits he studied all followed the relatively simple pattern of dominant and recessive
alleles for a single characteristic. There are several important modes of inheritance,
discovered after Mendel’s work, that do not follow the dominant and recessive, single-gene
model.

Mendel’s experiments with pea plants suggested that: 1) two types of “units” or alleles
exist for every gene; 2) alleles maintain their integrity in each generation (no blending);
and 3) in the presence of the dominant allele, the recessive allele is hidden, with no
contribution to the phenotype. Therefore, recessive alleles can be “carried” and not
expressed by individuals. Such heterozygous individuals are sometimes referred to as
“carriers.” Since then, genetic studies in other organisms have shown that much more
complexity exists, but that the fundamental principles of Mendelian genetics still hold true.
In the sections to follow, we consider some of the extensions of Mendelism.

Incomplete Dominance

Mendel’s results, demonstrating that traits are

inherited as dominant and recessive pairs,
contradicted the view at that time that offspring
exhibited a blend of their parents’ traits.
However, the heterozygote phenotype
occasionally does appear to be intermediate
between the two parents. For example, in the
snapdragon, Antirrhinum majus (Figure 14.10), a
cross between a homozygous parent with white
flowers (CWCW) and a homozygous parent with red
flowers (CRCR) will produce offspring with pink
flowers (CRCW). (Note that different genotypic
abbreviations are used for Mendelian extensions
to distinguish these patterns from simple
dominance and recessiveness.) This pattern of
inheritance is described as incomplete
dominance, meaning that one of the alleles
appears in the phenotype in the heterozygote,
but not to the exclusion of the other, which can
also be seen. The allele for red flowers is
incompletely dominant over the allele for white
flowers. However, the results of a heterozygote
self-cross can still be predicted, just as with
Mendelian dominant and recessive crosses. In
this case, the genotypic ratio would be
1 CRCR:2 CRCW:1 CWCW, and the phenotypic ratio
would be 1:2:1 for red:pink:white. The basis for the intermediate color in the heterozygote
is simply that the pigment produced by the red allele (anthocyanin) is diluted in the
heterozygote and therefore appears pink because of the white background of the flower
petals.

Codominance

A variation on incomplete dominance is codominance, in which both alleles for the same
characteristic are simultaneously expressed in the heterozygote. An example of
codominance occurs in the ABO blood groups of humans. The A and B alleles are
expressed in the form of A or B molecules present on the surface of red blood cells.
Homozygotes (IAIA and IBIB) express either the A or the B phenotype, and heterozygotes
(IAIB) express both phenotypes equally. The IAIB individual has blood type AB. In a self-
cross between heterozygotes expressing a codominant trait, the three possible offspring
genotypes are phenotypically distinct. However, the 1:2:1 genotypic ratio characteristic of
a Mendelian monohybrid cross still applies (Figure 14.11).

Multiple Alleles

Mendel implied that only two alleles,

one dominant and one recessive,
could exist for a given gene. We now
know that this is an oversimplification.
Although individual humans (and all
diploid organisms) can only have two
alleles for a given gene, multiple
alleles may exist at the population
level, such that many combinations of
two alleles are observed. An example
of multiple alleles is the ABO blood-
type system in humans. In this case,
there are three alleles circulating in
the population. The IA allele codes for
A molecules on the red blood cells,
the IB allele codes for B molecules on
the surface of red blood cells, and
the i allele codes for no molecules on the red blood cells. In this case, the IA and IB alleles
are codominant with each other and are both dominant over the i allele. Although there
are three alleles present in a population, each individual only gets two of the alleles from
their parents. This produces the genotypes and phenotypes shown in Figure 14.11. Notice
that instead of three genotypes, there are six different genotypes when there are three
alleles. The number of possible phenotypes depends on the dominance relationships
between the three alleles.

Linked Genes Violate the Law of Independent

Assortment
Although all of Mendel’s pea plant 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 us consider the
biological basis of gene linkage and recombination. Homologous chromosomes possess the
same genes in the same order, though the specific alleles of the gene can be different on
each of the two chromosomes. Recall that during interphase and prophase I of meiosis,
homologous chromosomes first replicate and then synapse, with like genes on the
homologs aligning with each other. At this stage, segments of homologous chromosomes
exchange linear segments of genetic material (Figure 8.3.68.3.6). 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.

When two genes are located 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 Figure 8.3.68.3.6: The process of crossover, or
and red flowers, and the other recombination, occurs when two homologous
chromosome has genes for short chromosomes align and exchange a segment of
plants and yellow flowers, then when
genetic material
the gametes are formed, the tall and
red alleles will tend to 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 a 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 linkage 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.

Polygenic inheritance and 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), such that 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, such
that two or more genes expressed
simultaneously affect a phenotype. An
apparent example of this occurs with human
skin color (Figure 14.13), which appears to
involve the action of at least three (and
probably more) genes. Cases in which
inheritance for a characteristic like skin color
or human height depend on the combined
effects of numerous genes are called
polygenic inheritance.

Genes may also oppose each other, with one

gene suppressing the expression of another.
In epistasis, the interaction between genes is
antagonistic, such that one gene masks or
interferes with the expression of another.
“Epistasis” is a word composed of Greek
roots meaning “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
expression of one gene is dependent on the
function of a gene that precedes or follows it in
the pathway.

An example will help clarify this concept. In

Labrador retrievers (commonly called “Labs”),
black coat color is dominant to brown. Let’s
designate B and b as the two alleles for this
character. For a Lab to have brown fur, its
genotype must be bb; these dogs are called
chocolate Labs. But there is more to the story.
A second gene determines whether or not
pigment will be deposited in the hair. The
dominant allele, symbolized by E, results in the
deposition of either black or brown pigment,
depending on the genotype at the first locus.
But if the Lab is homozygous recessive for the
second locus (ee), then the coat is yellow,
regardless of the genotype at the black/brown
locus (yellow Labs). In this case, the gene for
pigment deposition (E/e) is said to be epistatic
to the gene that codes for black or brown
pigment (B/b). What happens if we mate black Labs that are heterozygous for both genes
(BbEe)? Although the two genes affect the same phenotypic character (coat color), they
follow the law of independent assortment. Thus, our breeding experiment represents an F1
dihybrid cross, like those that produced a 9:3:3:1 ratio in Mendel’s experiments. We can
use a Punnett square to represent the genotypes of the F2 offspring (Figure 14.12). As a
result of epistasis, the phenotypic ratio among the F2 offspring is 9 black to 3 chocolate to
4 yellow Labs. Other types of epistatic interactions produce different ratios, but all are
modified versions of 9:3:3:1

Section Summary
Alleles do not always behave in dominant and recessive patterns. Incomplete dominance
describes situations in which the heterozygote exhibits a phenotype that is intermediate
between the homozygous phenotypes. Codominance describes the simultaneous
expression of both of the alleles in the heterozygote. Although diploid organisms can only
have two alleles for any given gene, it is common for more than two alleles for a gene to
exist in a population. In humans, as in many animals and some plants, females have two X
chromosomes and males have one X and one Y chromosome. Genes that are present on
the X but not the Y chromosome are said to be X-linked, such that males only inherit one
allele for the gene, and females inherit two.
According to Mendel’s law of independent assortment, genes sort independently of each
other into gametes during meiosis. This occurs because chromosomes, on which the genes
reside, assort independently during meiosis and crossovers cause most genes on the same
chromosomes to also behave independently. When genes are located in close proximity on
the same chromosome, their alleles tend to be inherited together. This results in offspring
ratios that violate Mendel's law of independent assortment. However, recombination serves
to exchange genetic material on homologous chromosomes such that maternal and
paternal alleles may be recombined on the same chromosome. This is why alleles on a
given chromosome are not always inherited together. Recombination is a random event
occurring anywhere on a chromosome. Therefore, genes that are far apart on the same
chromosome are likely to still assort independently because of recombination events that
occurred in the intervening chromosomal space.

Whether or not they are sorting independently, genes may interact at the level of gene
products, such that the expression of an allele for one gene masks or modifies the
expression of an allele for a different gene. This is called epistasis.

Bibliography: https://bio.libretexts.org/Bookshelves/Introductory_and_General_Biology/
Concepts_in_Biology_(OpenStax)/08%3A_Patterns_of_Inheritance/
8.03%3A_Extensions_of_the_Laws_of_Inheritance
Campbell Biology 12th edition by Lisa A. Urry, Michael L. Cain, Steven A. Wasserman, Peter V.
Minorsky and Rebecca B. Orr (2020)