Epistatic Gene Interactions

 Gene interactions occur when two or more different

genes influence the outcome of a single trait
 Most morphological traits (height, weight, color) are
affected by multiple genes
 Epistasis describes situation between various alleles
of two genes
 Quantitative loci is a term to describe those loci
controlling quantitatively measurable traits
 Pleiotropy describes situations where one gene affects
multiple traits
 Epistatic Gene Interactions
 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 Enzyme P

Colorless Colorless Purple

precursor intermediate 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

Enzyme C Enzyme P
Colorless Colorless Purple
precursor intermediate pigment

genotype cc

Enzyme C Enzyme P
Colorless Colorless Purple
precursor intermediate pigment

genotype pp
 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 F1: all red eyes
wild-type female
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 F1: all red eyes
wild-type female
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 –
151 + eye: 44 we eye: 14 ca eye
a 12 : 3 : 1 ratio
 Modeling the Data
 Cream phenotype is recessive therefore the
cream allele is recessive allele (either sex-
linked 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 ¾ C/_ x ¾ w+/_ CXw+ caXw+ caY
CY
¼ we/Y

¼ ca/ca x ¾ w+/_ CXw+ CCXw+Xw+ CCXw+Y cacaXw+Xw+ CcaXw+Y

¼ we/Y Female gametes

9/16 C/_ ; +
red CXw-e CCXw+Xw-e CCXw-eY CcaXw+Xw-e CcaXw-eY
3/16 ca/ca; +
3/16 C/_ ; we eosin
1/16 ca/ca; we cream
caXw+ CcaXw+Xw+ CcaXw+Y cacaXw+Xw+ cacaXw+Y
12:3:1

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 TTVV
x

Epistasis
ttvv
Triangular Ovate

F1 generation
TtVv
All triangular
15:1 ratio results F1 (TtVv) x F1 (TtVv)

TV Tv tV tv
TTVV TTVv TtVV TtVv
TV

TTVv TTvv TtVv Ttvv

Tv

TtVV TtVv ttVV ttVv

tV

TtVv Ttvv ttVv ttvv

tv

(b) The crosses of Shull

Bombay Phenotype
Bombay Phenotype
Bombay Phenotype
Categories of Inheritance Paterns
Epistasis of aa over B-

Epistasis of A- over bb

Complementary action
Generation of Epistatic Ratios

Duplicate action