Epistasis

Mendel's Dihybrid Crosses (Pea plant)

Homozygous Round and Yellow seeds (RRYY) F1 progeny: RrYy

Homozygous wrinkled and green seeds (rryy) RrYy x RrYy

F2 Progeny: 9:3:3:1 phenotypic ratio

RY Ry rY ry
RY RRYY RRYy RrYY RrYy
Ry RRYy Rryy RrYy Rryy
rY RrYY RrYy rrYY rrYy
Both the loci ry RrYy Rryy rrYy rryy
Rr & Yy are
independent Proportion Genotype Phenotype
9/16 RRYY Round, Yellow
3/16 Rryy Round, Green
3/16 rrYy Wrinkled, Yellow
1/16 rryy Wrinkled, Green
 What if 2 or more different loci/genes
affect the same character?
Two different gene products  affects a single trait/Phenotype  Epistasis (Digenic property)

Epistasis occurs in following conditions:

 Two or more loci interact to create new phenotype
 An allele at one locus masks the effect of alleles at one or more other loci
 An allele at one locus modifies the effects of alleles at one or more loci

Any time two different genes contribute to a single phenotype, those genes are said to be epistatic

Epistasis is an interaction at the phenotypic level of organization.

 Epistatic Relationship involving two genes
Combs in Chickens: Different varieties of chicken possess distinctive combs (William Bateson & RC Punnet)

Chicken Variety Comb shape Example

Wyandotts chicken Rose

Brahma chicken Pea Comb

Leghorn Single Comb

Walnut Comb
Wyandotte x Brahma  NEW PHENOTYPE

F1 progeny = Walnut combs

F2 Generation = F1 x F1  Walnut combs + Rose combs + Pea combs + Single combs

9 : 3 : 3 : 1
Conclusion: two different genes play a role in comb-shape in chicken

Wyandotte (RRpp) X Brahma (rrPP)

F1 Progeny = RrPp

Attest 1 rose comb allele + 1 Pea comb allele required  Walnut allele

F2 Progeny = RRPP, RrPP, RrPp & RRPp Walnut

RRpp  Rose-comb allele
rrPP  Pea comb allele
rrpp  Single comb allele
 Flower color in Peas
Another experiment to prove gene-gene interaction

2 varieties of pea each of which was pure-breeding for white flower.

F1 generation  progeny Purple colored flower

F2 Generation by crossing F1 x F1  382 purple-flowered & 269 white-flowered plants (9.4 : 6.6 or 9:7)

What is the possible Explanation?

Bateson (1909) one “allelomorphic pair”(pair of gene allele) masks the effect of the allele of another gene

2 recessive alleles at one flower locus could mask the effect of the allele of other flower locus

First locus C & second locus is P

According to Bateson theory, Flower with cc genotype will be white ; no matter what is the genotype at locus P

Flower with pp genotype will be white ; no matter what is the genotype at locus C
Masking action of one gene by another  Epistasis

Dooner et al. (1991) reported 2 genes regulate the color of flower by a pigment ‘Anthocyanin’
P

Precursor Step 1 Step 2 Anthocyanin

C
In peas, anthocyanin production is 2 step phenomenon, gene C involve in 1st step & gene P in 2nd step
if any one of these gene is non-functional the color flower will be white OR

Dominant C & P encodes purple, hence, any one or both alleles are recessive then the color of flower  WHITE
Female Gametes

CP Cp cP cp

CP CCPP CCPp CcPP CcPp

Cp CCPp CCpp CcPp Ccpp

Male Gametes
cP CcPP CcPp ccPP ccPp

cp CcPp Ccpp ccPp ccpp

Primula flower petal-color: dominant epistatic forces control petal color

K X Malvidin (Blue color)

Malvidin synthesis controlled by ‘K’ gene, yet production of pigment can be suppressed by gene ‘D’ present at another locus

If, D allele is dominant to K allele, plant with genotype KkDd will not produce malvidin because of presence of ‘D’

If 2 plants with genotype KkDd are crossed, what is the ratio of offspring?

Female Gametes

KD Kd kD kd

KD KKDD KKDd KkDD KkDd

Kd KKDd KKdd KkDd Kkdd

Male
Gametes kD KkDD KkDd kkDD kkDd

kd KkDd Kkdd kkDd kkdd

At times, two genes that play the same role in protein production can substitute for each
other
In wheat, kernel color is due to biochemical reaction that converts a precursor into a pigment.

This reaction can be performed by the product of either gene A or gene B

Either an A allele or a B allele produces color in the kernel, but a lack of either allele will produce a white kernel that is
devoid of color

A dihybrid cross between two plants with genotype AaBb (Table next Page)
 Female Gametes

AB Ab aB ab

AB AABB AABb AaBB AaBb

Ab AABb AAbb AaBb Aabb

Male
Gametes
aB AaBB AaBb aaBB aaBb

ab AaBb Aabb aaBb aabb

The offspring of this cross, the phenotype is nearly uniform

Only the double homozygous recessive genotype produces a phenotype with no color, and the resulting phenotypic
ratio of color to non-color is 15:1

So, if wheat kernel color is controlled by genes A and B, then A is epistatic to allele B or allele b, and B is epistatic
to allele A or allele a
Coat Color in Horses
One gene can interacts with another to modify—but not mask—a phenotype

In horses, the animal's coat color can either be red or black

The dominant allele E produces black pigmented coat, the recessive allele e, red pigmented coat

So, horses with genotype ee are red,

There are many variants of red shade in horse’s coat color due to the action of epistatic modifier genes

One such modifier gene is called cream dilution gene with two alleles: CCr and C

CCr allele is semi-dominant; dilutes red to yellow in the heterozygous state and red to pale cream in the homozygous
state

The C allele has no diluting effect on coat color

Horses with genotype eeCC are chestnut colored, and have reddish-brown coats, tails, and manes

Horses with one copy of the CCR allele (genotype eeCCCR) are palomino, they have a gold coat, white mane and tail

Horses with two copies of the CCR allele (genotype ee CCRCCR) are cremello (i.e., white or cream colored)
Examples of digenic epistatic ratio
Ratio Description Name(s) of Relationship
(Used by Some Authors)

9:3:3:1 Complete dominance at both gene Not named because the

pairs; new phenotypes result from ratio looks
interaction between dominant alleles, like independent
as well as from i10090.40+nteraction assortment
between both homozygous recessives
9:4:3 Complete dominance at both gene Recessive epistasis
pairs; however, when one gene is
homozygous recessive, it hides the
phenotype of the other gene
9:7 Complete dominance at both gene Duplicate recessive
pairs; however, when either gene is epistasis
homozygous recessive, it hides the
effect of the other gene
12:3:1 Complete dominance at both gene Dominant epistasis
pairs; however, when one gene is
dominant, it hides the phenotype of the
other gene
Ratio Description Name(s) of Relationship
(Used by Some Authors)

15:1 Complete dominance at both gene Duplicate dominant epistasis

pairs; however, when either gene is
dominant, it hides the effects of the
other gene

13:3 Complete dominance at both gene Dominant and recessive epistasis

pairs; however, when either gene is
dominant, it hides the effects of the
other gene

9:6:1 Complete dominance at both gene Duplicate interaction

pairs; however, when either gene is
dominant, it hides the effects of the
other gene

7:6:3 Complete dominance at one gene No name

pair and partial dominance at the
other; when homozygous recessive,
the first gene is epistatic to the
second gene
Ratio Description Name(s) of Relationship
(Used by Some Authors)

3:6:3:4 Complete dominance at one gene No name

pair and partial dominance at the
other; when homozygous recessive,
either gene hides the effects of the
other gene; when both genes are
homozygous recessive, the second
gene hides the effects of the first

11:5 Complete dominance for both gene No name

pairs only if both kinds of dominant
alleles are present; otherwise, the
recessive phenotype appears
Questions?