Epistasis

Submitted by :- Princy Submitted to:- Prof. Dr. Kapila Mahajan

Roll No. :- 15406 P.G Deppt. Of Zoology
M.Sc. Zoology I DAV College Jalandhar
 CONTENT
•Mendel's work in genetics
•Extension to Mendel's principles
•Introduction
•Definition
•Kinds of Epistasis
(і) Dominant Epistasis.
(ii) Recessive Epistasis
(iii) Duplicate Recessive Genes
(iv) Duplicate Dominant Genes
(v) Duplicate Genes with Cumulative Effect
(vi) Dominant Recessive Interaction
•References
Mendel’s work in genetics
 Johan Gregor Mendel was the pioneer of
classical geneticists.
 Called father of genetics.
 Done experiment on pea plant to study
inheritance of traits.
 Mendel joins maths and science together.
 Mendel proposed some basic genetic
principles called principle of inheritance.
Extension to Mendel’s principles
 Genetic interaction:-
 In Mendel’s crosses for a phenotypic trait
the genetic interaction is intra-allelic
interaction.
 Give classical ratio of 3:1 and 9:3:3:1.
 After Mendel the discovery of inter-allelic
genetic interaction has been made.
 Give modified ratios of 9:3:3:1
 Epistasis involves inter-allelic interaction.
 Epistasis is a Greek word that means standing
over .
 William Bateson used it to describe the
masking effect in 1909.
 An interaction between a pair of loci in which
the phenotype effect of one locus depends on
the genotype at the second locus.
Genes whose phenotypes are ;
 Expressed epistatic.
 Altered or suppressed hypostatic.
 Definition :
 The term epistasis describes a certain relationship
between genes, where an allele of one gene hides or
masks the visible output, or phenotype, of another
gene.

. Epistatic genes are sometimes called inhibiting

genes because of their effect on(suppressed) other
genes which are described as hypostatic.
Chemical interpretation:
 A gene is a chemical determiner.

 Gene products interact with the environment and factors

such as temperature, light, hormones and enzymes.

 If there is any problem or mutation in the intermediates, it

can lead to another phenotype and hence disturb the
Mendelian ratios.
Types :
• When out of two genes , the dominant allele (e.g.,A) of one
gene masked the effect of allele of another gene(e.g., B )and
expresses itself phenotypically.

• Then A gene locus is said to be epistatic to the B gene locus

.

•A’ can express itself in the presence of ‘B’ or ‘b’ allele.

Therefore it is called DOMINANT EPISTASIS.

•This type of dominant epistasis modifies the classical ratio of

9:3:3:1 into 12:3:1
Dominant epistasis in
dogs :-

2 gene action
I – epistatic gene

I B
Epistatic alleles Hypostatic alleles Phenotypic F2 Phenotypic
expression of allele ratio

1. II , Ii BB , Bb , bb I (no pigments) White= 12

2. ii BB , Bb B (Black) Black=3
3. ii bb B (Brown) Brown=1
 White (Male) X White (female)
Ii Bb Ii Bb
P Male gametes IB Ib iB ib
P female gametes
II BB II Bb Ii BB Ii Bb
IB White White White White
II Bb II bb Ii Bb Ii bb
Ib
White White White White
F2:
Ii BB Ii Bb Ii BB ii Bb
iB
White White Black Black
Ii Bb Ii bb Ii Bb ii bb
ib
White White Black Brown

F2 Phenotypic ratio: 12/16 White : 3/16 Black :1/16 Brown or 12:3:1

 Recessive epistatis (9:3:4)
Recessive allele (aa) of one gene locus hides the effect
of another gene locus (BB, Bb or bb) and expresses itself
phenotypically.

The alleles of B locus express themselves only when

epistatic locus has dominant alleles (eg., BB or Bb).

 This will modify the ratio 9:3:3:1 to ratio 9:3:4

Recessive epistasis in alleles for coat colour in mice:
2 seperate genes
C - pigment
c - no pigment - Epistatic Gene
B - more pigment(Agouti)
c B
b - less pigment (black)
cc - albino
Epistatic alleles Hypostatic alleles Phenotypic F2 Phenotypic
expression of Ratio
allele

1. cc BB, Bb, bb c Albino= 4

2. CC ,Cc BB, Bb B Agouti=9
3. CC , Cc bb b Black=3
P: BBcc (Albino) x bbCC (Black)
Bc (Agouti) bC
BbCc

Genotype Coat Color

P Male gametes 9 B_C_ Black

P female gametes

3 B_cc Albino

3 bbC_ Brown

1 bbcc albino
Duplicate Genes with
Cumulative Effect. (9:6:1)
• Both the dominant non allelic alleles, when present
together, give a new phenotype, but when allowed to
express independently, they give their own phenotypic
expression separately.

•In the absence of any dominant allele, the recessive

allele is expressed.
Example:- cumulative effect in coat colour in pigs
(Duroc-jersey)
•In pigs S and s are allelic genes;
 S giving sandy colour
 ss giving white colour.
A non-allelic gene R also gives sandy colour (same as S) but
when both the dominant genes interact together, they give
red colour.
Epistatic alleles Hypostatic Phenotypic expression of F2 Phenotypic
alleles allele Ratio

1. rr ss Neither r nor s(no pigments) White= 1

2. rr SS, Ss S
3. RR , Rr ss R
4. RR , Rr SS, Ss R+S (Mutually supplementary Red= 9
genes)*

 Presence of dominant alleles on the both epistatic and hypostatic loci produce cumulative
 SSrr SsRr (red) F1 ssRR
(sandy) (sandy)
SR Sr sR sr
P Male gametes
SSRR SSRr SsRR SsRr
P female gametes
(red) (red) (red) (red)
SR
SSRr SSrr SsRr Ssrr
(red) (sandy) (red) (sandy)
Sr
F2
SsRR SsRr ssRR ssRr
(red) (red) (sandy) (sandy)
sR
SsRr Ssrr ssRr ssrr
sr (red) (sandy) (sandy) (white)

F2 Phenotypic ratio: 9/16 Red : 6/16 Sandy :1/16 White or 9:6:1

• When recessive alleles at either of the two
loci can mask the expression of dominant alleles
at the two loci.

• If both gene loci have homozygous recessive

alleles and both of them produce identical
phenotype the F2 ratio 9:3:3:1 would be 9:7
Deaf mutism in human
Both dominant alleles i.e. AB
complement each other

Masking the effect of homozygous

recessive alleles i.e. ab
Epistatic alleles Hypostatic Phenotypic expression of F2 Phenotypic
alleles allele Ratio

1. aa BB, Bb, Neither a nor B or b deaf –

2. AA, Aa, bb Neither A nor a or b mute=7
3. AA , Aa bb Both
BB, Bb A+B(complementation)* Normal= 9
 Deaf-mute Deaf-mute
aa BB AA bb

Normal
Aa Bb
F1
AB Ab aB ab
P Male gametes
P female gametes AA BB AA Bb Aa BB Aa Bb
AB Normal Normal Normal Normal

Ab AA Bb AA bb Aa Bb Aa bb
Normal Deaf-mute Normal Deaf-mute

F2
Aa BB Aa Bb aa BB aa Bb
aB Normal Normal Deaf -mute Deaf -mute

Aa Bb Aa bb aa Bb aa bb
Normal Deaf -mute Deaf -mute Deaf -mute
ab

F2 Phenotypic ratio: 9/16 Normal :7/16 Deaf - Mute or

• When a dominant allele at either of two loci
can mask the expression of recessive alleles at
the two loci, it is also called duplicate gene
action.
• If a dominant allele of both gene loci produces
the same phenotype without cumulative effect,
i.e., independently the ratio will be 15:1.
• The duplicate genes are also called
pseudoalleles
 Example:- Awn in rice
• Controlled by two dominant duplicate genes (A and B).

• The awnless condition develops only when both these genes are in
homozygous recessive state (aabb).
Epistatic alleles Hypostatic Phenotypic expression of F2 Phenotypic
alleles allele Ratio

1. AA, Aa bb Phenotype of either or Awned rice = 15

2. AA, Aa BB, Bb both
3. aa BB, Bb dominant alleles i.e A or B
4. aa bb, bb or both Awnless rice = 1
ab

A cross between awned and awnless strains produced awned plants in

F1. Inter-mating of F1 plants produced awned and awnless plants in 15 : 1
ratio in F2 generation
 AA BB aa bb
AABB
Awnless rice
X
Awned rice
AaBb
P Male gametes
AB Ab aB ab
P female gametes
AA BB AA Bb Aa BB Aa Bb
AB
F1 [A] [A] [A] [A]

Ab AA Bb AA bb Aa Bb Aa bb
[A] [A] [A] [A]

F2
Aa BB Aa Bb aa BB aa Bb
aB [A] [A] [A] [A]

Aa Bb Aa bb aa Bb aa bb
ab [A] [A] [A] [a]

F2 Phenotypic ratio: 15/16 Awned rice:1/16 Awnless or 15:1

 The dominant allele (A), either in homozygous or
heterozygous condition, of one gene and the homozygous
recessive allele (bb) of other gene produces the same
phenotype.

 In F2 generation, progenies having A (homozygous or

heterozygous) or bb (homozygous) will not allow the C
gene to be expressed.

 Genotype AABB, AABb, AaBb and Aabb produce same

phenotype and the genotype aaBB, aaBb and aabb produce
another but same phenotype.
Example:-
Feather of Leghorn fowl Plymouth Rock
 In Leghorn fowl, the white colour of feather is formed by
CCII (due to the presence of epistatic gene I).

 Similarly in Plymouth Rock fowl the white colour of feather is

formed by ccii (due to the absence of dominant C gene).

C is suppressed by inhibitor gene both in dominant (I) and recessive

(ii) condition.
Epistatic Hypostatic Phenotypic expression of F2 Phenotypic
alleles alleles allele ratio

1. II , Ii CC, Cc , cc I (dominant inhibitor) White= 12

2. ii CC, Cc C (due to recessive inhibitor i) Coloured=3
3. ii cc c (due to c and i) White= 1
 Ccii
CCII
(White
(White Leghorn)
× Plymouth Rock)

CcIi
(white)
F1
P Male gametes CI Ci cI ci
P female gametes CCII CCIi CcII CcIi
(white) (white) (white) (white)
C
I CCIi CCii CcIi Ccii
(white) (colored) (white) (colored)

F2 Ci CcII CcIi ccII ccIi

(white) (white) (white) (white)

cI CcIi Ccii ccIi ccii

(white) (colored) (white) (white)

ci
F2 Phenotypic ratio:13/16 white :3/16 : coloured breed or 13:3
References:
 Verma,P.S., & Agarwal,V.K., (2004) “Cell biology, Genetics, Molecular
Biology, Evolution and Ecology” ed: 24th S.Chand and Company Ltd,Ram
Nagar, New Delhi. Pp: 45-56

 http://www.biologydiscussion.com/genetics/geneinteractions/ top-6-
types-of-epistasis-gene-interaction/37818

 http://www.yourarticlelibrary.com/biology/6-mostimportant- kinds-of-
epistasis-biology/6436/

https://www.ndsu.edu/pubweb/~mcclean/plsc431/mendel/mendel6.htm

 https://omictools.com/epistasis-detection-category

 Search engine www.google.com