Epistatic Gene Interactions

http://faculty.mwsu.edu/ biology/ jon.scales/ Courses/ Genetics

examine cases involving 2 loci (genes) that each have 2 alleles

Crosses performed can be illustrated in general by
AaBb X AaBb
Where A is dominant to a and B is dominant to b
If these two genes govern two different traits
A 9:3:3:1 ratio is predicted among the offspring
simple Mendelian dihybrid inheritance pattern
If these two genes do affect the same trait the 9:3:3:1 ratio may
be altered
9:3:4, or 9:7, or 9:6:1, or 8:6:2 or 12:3:1, or 13:3, or 15:1
epistatic ratios

A Cross Producing a 9:7 ratio

Figure 4.18

9 C_P_ : 3 C_pp :3 ccP_ : 1 ccpp

purple

white

Epistatic Gene Interaction

Complementary gene action

Enzyme C and enzyme P cooperate to

make a product, therefore they
complement one another
Enzyme C

Colorless
precursor

Enzyme P

Colorless
intermediate

Purple
pigment

Epistatic Gene Interaction

Epistasis describes the situation in which a gene masks the

phenotypic effects of another gene
Epistatic interactions arise because the two genes encode
proteins that participate in sequence in a biochemical
pathway
If either loci is homozygous for a null mutation, none of that
enzyme will be made and the pathway is blocked
Colorless
precursor

Enzyme C

Colorless
intermediate

Enzyme P

Purple
pigment

genotype cc

Colorless
precursor

Enzyme C

Colorless
intermediate

Enzyme P

genotype pp

Purple
pigment

Epistasis of Involving Sex-linked Genes

Inheritance of the Cream-Eye allele in

Drosophila

a rare fly with cream-colored eyes identified in a

true-breeding culture of flies with eosin eyes
possible explanations

1. Mutation of the eosin allele into a cream allele

2. Mutation of a 2nd gene that modifies expression of the
eosin allele

The Hypothesis

Cream-colored eyes in fruit flies are due to the

effect of a second gene that modifies the
expression of the eosin allele

Testing the Hypothesis

cream allele is recessive

to +

Figure 4.19

Interpreting the Data

Cross

Outcome

P cross:
Cream-eyed male X
wild-type female

F1: all red eyes

F1 cross:
F1 brother X F1 sister

F2: 104 females with red eyes

47 males with red eyes
44 males with eosin eyes
14 males with cream eyes

F2 generation contains males with eosin eyes

This indicates that the cream allele is
not in the same gene as the eosin allele

Interpreting the Data

Cross

Outcome

P cross:
Cream-eyed male X
wild-type female

F1: all red eyes

F1 cross:
F1 brother X F1 sister

F2 generation contains
151 + eye: 44 we eye: 14 ca eye
a 12 : 3 : 1 ratio

F2: 104 females with red eyes

47 males with red eyes
44 males with eosin eyes
14 males with cream eyes

Modeling the Data

Cream phenotype is recessive therefore the

cream allele is recessive allele (either sexlinked or autosomal)
The mutated allele of the cream gene modifies
the we allele, while the wt cream allele does
not

C = Normal allele

Does not modify the eosin phenotype

ca = Cream allele

Modifies the eosin color to cream, does not effect wt or

white allele of white gene.

Modeling the Data

Putative genotypes in a cross
P w+/ w+; C/C x we/Y; ca/ca
F1 w+/ we; C/ca & w+/Y; C/ca

Male gametes

F2 C/_ x w+/_
we/Y

9/16
3/16
3/16
1/16

w+/_
we/Y

C/_ ; +
red
ca/ca; +
C/_ ; we eosin
ca/ca; we cream

12:3:1

CXw+

Female gametes

ca/ca

CXw+

CY

caXw+

caY

CCXw+Xw+ CCXw+Y cacaXw+Xw+ CcaXw+Y

CXw-e CCXw+Xw-e CCXw-eY CcaXw+Xw-e CcaXw-eY

caXw+ CcaXw+Xw+ CcaXw+Y cacaXw+Xw+ cacaXw+Y

caXw-e CcaXw+Xw-e CcaXw-eY cacaXw+Xw-e cacaXw-eY

A Cross Involving a Two-Gene Interaction Can

Still Produce a 9:3:3:1 ratio

Inheritance of comb morphology in chicken

First example of gene interaction

William Bateson and Reginald Punnett in 1906
Four different comb morphologies

Figure 4.17b
The crosses of Bateson and Punnett

F2 generation consisted of chickens with four

types of combs
9 walnut : 3 rose : 3 pea : 1 single
Bateson and Punnett reasoned that comb
morphology is determined by two different
genes

R (rose comb) is dominant to r

P (pea comb) is dominant to p
R and P are codominant (walnut comb)
rrpp produces single comb

Gene Interaction

Duplicate gene action

Enzyme 1 and enzyme 2 are

redundant
They both make product C,
therefore they duplicate
each other

Duplicate Gene Action

Epistasis

x
TTVV
Triangular

ttvv
Ovate

F1 generation
TtVv
All triangular
F1 (TtVv) x F1 (TtVv)

15:1 ratio results

TV

Tv

tV

tv

TV

Tv

tV

tv

TTVV

TTVv

TtVV

TtVv

TTVv

TTvv

TtVv

Ttvv

TtVV

TtVv

ttVV

ttVv

TtVv

Ttvv

ttVv

ttvv

(b) The crosses of Shull

Bombay Phenotype

Bombay Phenotype

Bombay Phenotype

Categories of Inheritance Paterns

Duplicate action

Complementary action

Epistasis of A- over bb

Epistasis of aa over B-

Generation of Epistatic Ratios

Epistasis
BBEE

Interaction between
two gene products
B = black is dominant
to b = brown
E = hair pigment
ee = no pigment

bbee

F1 puppies
are all BbEe

Epistasis

Cross puppies from two

separate litter which are
known to be BbEe
BE

Be

bE

be

BE

BBEE

BBEe

BbEE

BbEe

Be

BBEe

BBee

BbEe

Bbee

bE

BbEE

BbEe

bbEE

bbEe

be

BbEe

Bbee

bbEe

F2 puppies

bbee

black
brown
yellow