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EPISTASIS

AQSA . HAMID .SHIRGAONKAR.


MSC PART 1
PAPER 3
SINDHU SWADHYAY SANSTHA.
KALINA CAMPUS .
2014-2015

WHAT IS A GENE???
A basic physical and functional unit of
heredity.
Each person has two copies of each gene.
Alleles are the forms of the same gene
contributing to each persons unique
physical features.

DOMINANT
RECESSIVE

DOMINANCE AND
RECESSIVENESS

Gregor Johann Mendel gave the LAW


OF DOMINANCE where he stated that,
in a cross between two homozygous
organisms differing in a single pair of
contrasting characters, the characters
which expresses itself in F1 generation
is called dominant character and the
unexpressed one is called recessive
character.

Dominance and recessiveness determine


the inheritance patterns of certain traits.

INTERACTION OF GENES
2 types:
Intra-allelic interaction: Takes place
between alleles at the same locus.

May involve dominance relationship or multiple


alleles.

Inter-allelic interaction: Takes place


between alleles at different loci.
May involve non-epistatic or epistatic interactions.

Intra allelic interactions :TYPES OF


DOMINANCE:

A
A

COMPLETE DOMINANCE
B

B
B

INCOMPLETE DOMINANCE

B
B

BB
A
B

CODOMINANCE

INTER-ALLELIC
INTERACTIONS

Non-epistatic
interactions:
When two independently
working gene loci affect the
same trait, present together in
dominant heterozygous or
homozygous condition,
produce a different (new)
phenotype, then it is said to be
a non-epistatic interaction.
Eg. Shape of comb in fowl.

EPISTATIC
INTERACTIONS/EPISTASIS

Epistasis is When one gene masks the effect of another


gene.
Term first used by Bateson in 1909.
Epistatic Genes: They are the genes that suppress the other
genes expression.
Hypostatic Genes: They are the ones whose action is
suppressed.
Epistasis occurs in all of the following scenarios:
Whenever two or more loci interact to create new
phenotype.
Whenever an allele at one locus masks the effects of alleles
at one or more other loci
Whenever an allele at one locus modifies the effects of
alleles at one or more other loci

EXAMPLE FOR EPISTASIS

Feather colour in chickens:


Gene C codes for colored feathers. Another non-allelic gene A
is epistatic to C. In the presence of A, C cannot produce
coloured feathers. Therefore, feathers are white.
Only when A is absent (aa), C is effective.
C_A_ = White (A epistatic to C), ccA_ = White (no C gene),
ccaa= White
C_aa = Coloured.
A cross between White (CCAA) and white (ccaa) produces all
White feathers in F1 (CcAa). In F2, White and coloured are
obtained in 13:3 ratio.

TYPES OF EPISTASIS

Recessive epistasis:
When the recessive allele of one gene masks the effects of either allele
of the second gene.

Eg. Coat colour in mice

Parents
Gametes

F1 Generation

Black
AAbb
Ab

Albino
aaBB
aB

AaBb (Agouti)

F2 Generation

AaBb

AaBb

FEMALE GAMETES

MALE
GAMETE
S

AB

Ab

aB

ab

AB

AABB

AABb

AaBB

AaBb

Ab

AABb

AAbb

AaBb

Aabb

aB

AaBB

AaBb

aaBB

aaBb

ab

AaBb

Aabb

aaBb

aabb

Phenotypic ratio:

Agouti : Black : White


9
: 3
:
4

The ratio obtained is a modified mendelian ratio (9:3:3:1 =


3+1= 4).
So the ratio here gets modified to 9:3:4

DUPLICATE RECESSIVE
EPISTASIS
If both gene loci have homozygous recessive alleles and both
of them produce identical phenotype, the F2 ratio 9:3:3:1 gets
modified to 9:7.
Both dominant alleles when present together, complement each
other and produce a different phenotype (aka Complementary
gene action)
E.g. Inheritance of deafness in humans
Deaf
Deaf
Parents
aaBB x
AAbb
Gametes
aB
Ab

F1 Generation

AaBb (Normal)

F2 Generation

AaBb x AaBb
FEMALE GAMETES

MALE
GAMETE
S

AB

Ab

aB

ab

AB

AABB

AABb

AaBB

AaBb

Ab

AABb

AAbb

AaBb

Aabb

aB

AaBB

AaBb

aaBB

aaBb

ab

AaBb

Aabb

aaBb

aabb

Phenotypic ratio :

Normal : Deaf
9
: 7

Here, the ratio gets modified from 9:3:3:1 to 9:7 (3+3+1=7)

DOMINANT EPISTASIS
A dominant allele of one allelic pair masks the effect of the
pairs of alleles present on another locus.
Eg. Summer squash- Common fruit colours are White, Green
and Yellow.
White is dominant over yellow and green, Yellow is dominant
over green, but yellow is recessive to white.
White
Green
Parents
WWYY
x
wwyy
Gametes
WY
wy

F1 Generation

WwYy (White)

F2 Generation

WwYy x WwYy
FEAMLE GAMETES
WY

Wy

wY

wy

WY
MALE
GAMETE Wy
S
wY

WWYY

WWYy

WwYY

WwYy

WWYy

Wwyy

WwYy

Wwyy

WwYY

WwYy

wwYY

wwYy

wy

WwYy

Wwyy

wwYy

wwyy

Phenotypic ratio:

White : Yellow : Green


12 :
3
:
1

The ratio gets modified to 12:3:1 (9:3:3:1 = 9+3=12).

DUPLICATE DOMINANT
EPISTASIS
When two alleles on different loci in the dominant form have
an identical effect on the phenotype, similar to that produced
by each dominant gene alone, the phenomena is said to be
Duplicate dominant epistasis.
Eg. Seed capsule of shepherds purse (Capsella)
Triangular
Ovoid
Parents
AABB x aabb
Gametes
AB
ab

F1 Generation

AaBb (Triangular)

F2 Generation
AaBb

AaBb

FEMALE GAMETES

MALE
GAMETE
S

AB

Ab

aB

ab

AB

AABB

AABb

AaBB

AaBb

Ab

AABb

AAbb

AaBb

Aabb

aB

AaBB

AaBb

aaBB

aaBb

ab

AaBb

Aabb

aaBb

aabb

Phenotypic ratio:

Triangular : Ovoid
15
:

Here, the ratio gets modified from 9:3:3:1 to 15:1


(9+3+3= 15)

DOMINANT-RECESSIVE
EPISTASIS
When the dominant alleles of one gene locus in homozygous
or heterozygous condition AA or Aa and homozygous
recessive alleles bb of another gene locus produce the same
phenotype, the phenomena is said to be Dominant- Recessive
epistasis.
Eg. Feather colour of cock
Coloured
White
Parents
CCii
x
ccII
Gametes
Ci
cI

F1 Generation

CcIi (White)

F2 Generation

CcIi

CcIi

FEMALE GAMETES

MALE
GAMETE
S

CI

Ci

cI

ci

CI

CCII

CCIi

CcII

CcIi

Ci

CCIi

Ccii

CcIi

Ccii

cI

CcII

CcIi

ccII

ccIi

ci

CcIi

Ccii

ccIi

ccii

Phenotypic ratio:

White : Coloured
13 :
3

Here, the ratio gets modified from 9:3:3:1 to 13:3 (9+3+1=13)

Reference:
http://www.nature.com/scitable/topicpage/epistasis-g
ene-interaction-and-phenotype-effects-460
http://www.yourarticlelibrary.com/biology/6-most-imp
ortant-kinds-of-epistasis-biology/6436/
Principles of Genetics by Robert Tamarin.
Advanced Genetics by G.S. Miglani.
Concepts of Genetics by William S. Kluge, M.R.
Cummings.
F.Y.B.Sc Botany.

Thank you

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