Gene Interaction

Introduction
• For centuries before Mendel planted his
first pea plant, scholars and scientists
argued about how inheritance of physical
traits worked.
• It was obvious that something was
passed from parent to offspring because
diseases and personality traits seemed to
run in families.
• And farmers knew that by breeding
plants and animals with certain physical
features that they valued, they could
create varieties that produced desirable
products, like tastier apples, more wool,
or fatter cows.

• But just how inheritance worked and

exactly what was passed from parent to
child remained a mystery.
 Dominance Revisited
• One of Mendel’s important contributions
to the study of heredity is the concept of
dominance—the idea that an individual
possesses two different alleles for a
characteristic, but the trait enclosed by
only one of the alleles is observed in the
phenotype.
• With dominance, the heterozygote
possesses the same phenotype as one of
the homozygotes
• When biologists began to apply Mendel’s
principles to organisms other then peas,
it quickly became apparent that many
characteristics do not exhibit this type of
dominance, so dominance is not
universal

• This situation, in which the heterozygote

is intermediate in phenotype between
the two homozygotes, is termed
incomplete dominance
• The important thing to remember about
dominance is that it affects the
phenotype that genes produce, but not
the way in which genes are inherited.
• Another type of interaction between
alleles is codominance, in which the
phenotype of the heterozygote is not
intermediate between the phenotypes of
the homozygotes; rather, the
heterozygote simultaneously expresses
the phenotypes of both homozygotes. An
example of codominance is seen in the
MN blood types.
• The MN locus codes for one of the types of
antigens on red blood cells
• At the MN locus, there are 2 alleles :
– LM allele, code for M antigen
– LN allele, code for N antigen

• Homozygotes LM LM express M antigen on their

red blood cells and have M blood type
• Homozygotes LN LN express N antigen on their
red blood cells and have N blood type
• Heterozygotes LM LN exhibit codominance and
express both M and N antigens, have blood
type MN
• In summary, several important
characteristics of dominance should be
emphasized :
1. Dominance is a result of interactions
between genes at the same locus
(dominance is allelic interaction)
2. Dominance does not alter the way in which
the genes are inherited; it only influences
the way in which they are expressed as a
phenotype.
3. The allelic interaction that characterizes
dominance is therefore interaction
between the products of the genes.
 Lethal Alleles
• In 1905, Lucien Cuenot reported a
peculiar pattern of inheritance in mice.
When he mated two yellow mice,
approximately 2/3 of their offspring were
yellow and 1/3 were nonyellow.
• When he test-crossed the yellow mice,
he found that all were heterozygous; he
was never able to obtain a yellow mouse
that bred true
• the allele responsible for a lethal effect
when homozygous may also result in a
distinctive mutant phenotype when
present heterozygously.
• It is behaving as a recessive lethal allele
but is dominant with respect to the
phenotype.
• With regard to coat
color, the mutant
yellow allele (AY) is
dominant to the wild-
type agouti allele (A),
so heterozygous mice
will have yellow coats
• However, the yellow
allele is also a
homozygous recessive
lethal
• When present in two
copies, the mice die
before birth. Thus,
there are no
homozygous yellow
mice
• The genetic basis for
these three crosses is
shown in Figure 4–4.
• In other cases, a mutation may behave as
a dominant lethal allele
• In such cases, the presence of just one
copy of the allele results in the death of
the individual
• In humans, a disorder called Huntington
disease is due to a dominant autosomal
allele H, where the onset of the disease in
heterozygotes (Hh) is delayed, usually
well into adulthood
• A lethal allele is one that causes death at
an early stage of development— often
before birth—and so a some genotypes
may not appear among the progeny.
 Lethal Alleles Represent
Essential Genes
• Many gene products are essential to an
organism’s survival.
• Mutations resulting in the synthesis of a
gene product that is nonfunctional can
often be tolerated in the heterozygous
state; that is, one wild-type allele may be
sufficient to produce enough of the
essential product to allow survival.
• However, such a mutation behaves as a
recessive lethal allele, and homozygous
recessive individuals will not survive.
• The time of death will depend on when
the product is essential. In mammals, for
example, this might occur during
development, early childhood, or even
adulthood.
 Multiple Alleles
• In Mendel’s peas, for instance, one allele
coded for round seeds and another for
wrinkled seeds; in cats, one allele
produced a black coat and another
produced a gray coat.

• For some loci, more than two alleles are

present within a group of individuals—
the locus has multiple alleles.
• Although there may be more than two
alleles present within a group, the
genotype of each diploid individual still
consists of only two alleles.

• The inheritance of characteristics

encoded by multiple alleles is no
different from the inheritance of
characteristics encoded by two alleles,
except that a greater variety of
genotypes and phenotypes are possible.
Example of multiple alleles: Duck-
Feather Patterns
• Mallard ducks has one allele, M,
produces the wild-type mallard pattern.
A second allele, MR , produces a different
pattern called restricted, and a third
allele, md, produces a pattern termed
dusky. MR > M > md
The six
genotypes possible with
these three alleles and
their resulting
phenotypes are:
Example of multiple alleles: The
ABO Blood Group
• The three common alleles for the ABO
blood group locus are:
1. IA, which codes for the A antigen;
2. IB, which codes for the B antigen;
3. i, which codes for no antigen (O)
• The dominance relations among the ABO
alleles as follows:
IA > i, IB > i, IA = IB
• The IA and IB alleles are both dominant
over i and are codominant with each
other;

• The AB phenotype is due to the presence

of an IA allele and an IAB allele, which
results in the production of A and B
antigens on red blood cells.

• An individual with genotype ii produces

neither antigen and has blood type O
Antigens on Red Blood Cells

IAi IBi

IAIB
 Gene Interaction
• Genes exhibit independent assortment
but do not act independently in their
phenotypic expression; instead, the
effects of genes at one locus depend on
the presence of genes at other loci. This
type of interaction between the effects of
genes at different loci (genes that are not
allelic) is termed gene interaction.
• With gene interaction, the products of
genes at different loci combine to
produce new phenotypes that are not
predictable from the single-locus effects
alone.
 Gene Interaction That Produces
Novel Phenotypes
• dominant allele R at the first locus
produces a red pigment; the
recessive allele r at this locus
produces no red pigment.
• dominant allele C at the second
locus causes decomposition
of the green pigment chlorophyll;
the recessive allele c allows
chlorophyll to persist.
Gene Interaction with Epistasis
• Sometimes the effect of gene interaction is that
one gene masks (hides) the effect of another
gene at a different locus, a phenomenon
known as epistasis.

• In epistasis, the gene that does the masking is

called the epistatic gene; the gene whose
effect is masked is a hypostatic gene.

• Epistatic genes may be recessive or dominant

in their effects.
 Recessive Epistasis
Epistatic gene exerts its affect with
homozygous recessive genotype.

eg. Petal color in blue-eyed Mary plants

mm= magenta, ww =white, W__M__= blue

W M

enzyme 1 enzyme 2

Precursor 1 Precursor 2blue anthocyanin

colorless magenta
 Duplicate Recessive Epistasis
Defective products of recessive alleles of two
different genes interfere with separate steps
in a biochemical pathway.

eg. Petal color in harebell flowers

ww = white, bb = white, W_ B_ = blue

W B
enzyme 1 enzyme 2

Precursor 1 Precursor 2blue anthocyanin

colorless colorless
 Dominant Epistasis
Epistatic gene exerts its affect with the
presence of a dominant allele.

eg. Fruit color in summer squash

Y = yellow, yy = green;
W inhibits either color = white;
w has no effect on color