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 What is epistasis and what does it means?

 What are its different types and how is the

Mendelian ratio modified in all the types of
epistasis?

 What do we cannot predict the role of

epistasis in animal genetics?

Introduction

Chemical Interpretation  Epistasis is Greek word meaning ‘standing over’.

Kinds of Epistasis  It was first used in 1909 by Bateson to describe a

masking effect.
(і) Dominant Epistasis.
(ii) Recessive epistasis  An interaction between a pair of loci, in which the
(iii) Duplicate Recessive Genes phenotypic effect of one locus depends on the
(iv) Duplicate Dominant Genes genotype at the second locus.
(v) Duplicate Genes with Cumulative Effect
(vi) Dominant Recessive Interaction ◼ Genes whose phenotype are
✓ Expressed-epistatic
✓ altered or suppressed-hypostatic

Chemical interpretation Kinds of Epistatic Interactions

In epistasis less than four phenotypes appear in F2
 A gene is a chemical determiner. (і) Dominant Epistasis. (12:3:1)

 Gene products interact with the environment and (ii) Recessive epistasis.(9:3:4)(Supplementary interaction)
factors such as temperature, light, hormones and
enzymes. (iii) Duplicate Recessive Genes (9:7) (Complementary
Genes)
 If there is any problem or mutation in the intermediates,
(iv) Duplicate Dominant Genes. (15:1)
it can lead to another phenotype and hence disturb the
Mendelian ratios.
(v) Duplicate Genes with Cumulative Effect (9:6:1)

(vi) Dominant Recessive Interaction (13:3)

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Dominant Epistasis (12:3:1)

 Dominant allele (e.g., A) of one gene hides the effect of Epistatic Hypostatic Phenotypic
allele of another gene (e.g., B) and expresses itself
phenotypically. alleles alleles Expression

 The B allele (hypostatic) will be expressed only when gene aa bb b

locus A contains two recessive (aa) alleles.

 Thus, the genotype AA BB or Aa Bb and AA bb or Aa bb

aa BB, Bb B
produce the same phenotype
AA, Aa BB, Bb, bb A
 genotype aa BB or aa Bb and aa bb produce two additional
phenotype.
 This type of dominant epistasis modifies the classical ratio
of 9:3:3:1 into 12:3:1

Example: ❖The effect of

dominant gene ’Y’ is
masked by the
Studied in summer squash (Cucurbita pepo) dominant gene ’W’
(epistatic gene)
❑Common fruit colors- white, yellow & green
❑White (W) is dominant over colored squash
❑Yellow (Y) is dominant over green squash WY Wy wY wy
❖P WWYY X wwyy ♂/
❑Pure breeding white fruited variety is crossed with the ♀
double recessive green variety, F1 hybrids are all white (white) ↓ (green)
WY WWY WWY WwY Ww
❑When the hybrids are selfed- white, yellow, & green ❖ F1 WwYy Y y Y Yy
fruited plants arise in the ratio of 12:3:1 (white) (selfed) Wy WWY WWyy WwYy Wwy
y y
❖ F2
wY WwY WwYy wwYY wwY
White:Yellow:Green
Y y
❖ 12 : 3 : 1 wy WwYy Wwyy wwYy wwy
y

Recessive epistasis. (9:3:4)

(Supplementary interaction)

Epistatic Hypostatic Phenotypic

 Recessive allele (aa) of one gene locus hides the effect
of another gene locus (BB, Bb or bb) and expresses alleles alleles Expression
itself phenotypically.

aa BB, Bb, bb a
 The alleles of B locus express themselves only when
epistatic locus has dominant alleles (eg., AA or Aa). AA, Aa BB, Bb B
AA, Aa bb b
 This will modify the ratio 9:3:3:1 to ratio 9:3:4

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 In horses, brown coat color (B) is dominant over tan (b).

 However, how that gene is expressed in the phenotype

is dependent on a second gene that controls the
deposition of pigment in hair.

 The dominant gene (C) codes for the presence of

pigment in hair, whereas the recessive gene (c) codes for
the absence of pigment.

Recessive Epistasis – Another example Labrador Retrievers

 Fur color in Labrador Retrievers is controlled
by two separate genes.  If a Labrador retriever has
◦ Fur color is a polygenic trait! a dominant B allele, they
will have black fur.
Gene 1: Represented by B
: Controls color
 If they have two recessive
Gene 2: Represented by E alleles (bb) they will have
brown fur.
: Controls expression of B

Labrador Retrievers Labrador Retrievers

 If a retriever receives at least one dominant “E”  BBEE and BbEe --> Black retrievers
allele, they will remain the color that the “B” allele  bbEE and bbEe --> Brown retrievers
coded for.
 BBee, Bbee, or bbee --> Golden retrievers
◦ Either black or brown

 However, if a dog receives a pair of homozygous

recessive “e” alleles, they will be golden regardless
of their “B” alleles!

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Try this cross… bbee x bbEe

 We have decided to cross a golden
retriever (bbee) with the a chocolate  FOIL: be
retriever (bbEe). What color pups will we  FOIL: bE or be
have?
 Genotypes of F1 generation:
bbEe and bbee

 Pups phenotypes:
Brown and golden

Duplicate Recessive Genes (9:7)

(Complementary Genes) Epistatic Hypostatic Phenotypic
 Both the genes loci have homozygous recessive alleles alleles alleles Expression
and both of them produce identical phenotype.

 Both dominant alleles are necessary to produce a aa BB, Bb, bb No phenotype

different phenotype. e.g. AABB, AaBB, AaBb, in all these
combinations. AA, Aa, aa bb production

 Both the dominant alleles (A and B) are present and

they will produce a different phenotype. AA, Aa BB, Bb Phenotype due
 Whereas aaBB or bbAA, in which the other dominant to dominant
allele is absent, produces the normal phenotype.

 Bateson and Punnett observed that when two white

flowered varieties of sweet pea, Lathyrus odoratus were
crossed, F1 progeny had colored flowers.

 However, when F1 was selfed, the F2 ratio showed the

presence of both colored and white flowered varieties
in the ratio 9:7.

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 In this case dominant alleles on both locus are

required hence wherever A and B both are
present they result into purple effect masking
the white.

 This is because A and B alleles modified the

colorless precursor by showing their effects

Duplicate Dominant Genes. (15:1)

 The purple pigment in corn requires that two enzymes  The dominant alleles of both the genes produce the same
(controlled by two dominant alleles) must be active for phenotypic effect giving the ratio 15:1.
the pigment to form.
 At least one of the dominant allele is necessary for the
 Two white varieties of corn showing the genotypes phenotypic effect. e.g. AABB, AaBb, Aabb, aaBB, aaBb give
AAbb and aaBB, will produce a ratio of 9/16 purple and one phenotype.
7/16 white ears, depending upon the nine different
possible arrangements of the chromosomes (and alleles)
for these characteristics.  In the absence of all the dominant genes (only in case of
aabb), the recessive phenotype will be expressed.

 The duplicate genes are also called pseudoalleles

Epistatic Hypostatic Phenotypic  As observed by G.H.Shull, the seed capsules of

Shepherd’s purse (genus Capsella) occur in two different
alleles alleles expression shapes,

➢ i.e. triangular and top shaped.

aa bb Another
➢ When F1 individuals were self crossed, the F2 generation
phenotype showed plants with triangular and top shaped capsules in
the ratio 15:1
aa BB, Bb Same
➢ (A and B) would produce plants with triangular-shaped
AA, Aa bb phenotype capsules.
AA, Aa Bb, Bb
➢ aabb would produce plants with top shaped capsules. F2
phenotypic ratio 15(triangular) 1(Top shaped).

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 P: AABB × aabb
Duplicate Genes with
(triangular) (top-shaped) Cumulative Effect. (9:6:1)
F1 : AaBb
(triangular)
 Both the dominant non-allelic alleles, when present
together, give a new phenotype, but when allowed to
AB Ab aB ab express independently, they give their own phenotypic
AABB AABb AaBB AaBb expression separately.
AB
(triangular) (triangular) (triangular) (triangular)
AABb AAbb AaBb Aabb
Ab  In the absence of any dominant allele, the recessive allele
(triangular) (triangular) (triangular) (triangular) is expressed.
AaBB AaBb aaBB aaBb
aB
(triangular) (triangular) (triangular) (triangular)
AaBb Aabb aaBb aabb
ab
(triangular) (triangular) (triangular) (top-shape)

Epistatic Hypostatic Phenotypic

 In pigs S and s are allelic genes;
alleles alleles expression
➢ S giving sandy colour
➢ ss giving white colour.
aa bb Neither a nor b

aa BB, Bb B only ➢ A non-allelic gene R also gives sandy colour (same as S)

but when both the dominant genes interact together,
AA, Aa bb A only they give red colour.

AA, Aa Bb, Bb A+B mutually ➢ Non-allelic gene does not interact with ss
supplement

P: SSrr × ssRR
(sandy) (sandy) Dominant Recessive Interaction (13:3)

 The dominant allele (A), either in homozygous or heterozygous

SsRr (red)
F1 : condition, of one gene and the homozygous recessive allele
SR Sr sR sr (bb) of other gene produces the same phenotype.
SSRR SSRr SsRR SsRr
F2 :
SR
(red) (red) (red) (red)
 Genotype AABB, AABb, AaBb and Aabb produce same
SSRr SSrr SsRr Ssrr
Sr phenotype and the genotype aaBB, aaBb and aabb produce
(red) (sandy) (red) (sandy) another but same phenotype.
SsRR SsRr ssRR ssRr
sR
(red) (red) (sandy) (sandy)
SsRr Ssrr ssRr ssrr
sr
(red) (sandy) (sandy) (white)

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 In Leghorn fowl, the white colour of feather is

formed by CCII (due to the presence of epistatic
Epistatic Hypostatic Phenotypic gene I).
alleles alleles expression
 Similarly in Plymouth Rock fowl the white colour
of feather is formed by ccii (due to the absence of
dominant C gene).
aa Bb, BB, bb a doesn’t inhibit
B or b

AA, Aa Bb, Bb , bb A inhibit B or b

 P: CCII × ccii
(White Leghorn) (White Plymouth Rock)

 F1 : CcIi
(white)

CI Ci cI ci
CCII CCIi CcII CcIi
CI (white) (white) (white) (white)
CCIi CCii CcIi Ccii
Ci (white) (colored) (white) (colored)
CcII CcIi ccII ccIi
cI (white) (white) (white) (white)
CcIi Ccii ccIi ccii
ci (white) (colored) (white) (white)