Epistasis: Genetic Interactions and Their Implications

undefined
E
P
I
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T
A
T
I
C
 
G
E
N
E
 
I
N
T
R
A
C
T
I
O
N
undefined
I
n
t
r
o
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u
c
t
i
o
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C
h
e
m
i
c
a
l
 
I
n
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p
r
e
t
a
t
i
o
n
K
i
n
d
s
 
o
f
 
E
p
i
s
t
a
s
i
s
(і)
 
Dominant
 
Epistasis.
(ii)
Recessive
 
epistasis
(iii)
Duplicate Recessive
 
Genes
(iv)
Duplicate Dominant
 
Genes
(v)
Duplicate Genes with Cumulative
 
Effect
(vi)
Dominant Recessive
 
Interaction
R
e
f
e
r
e
n
c
e
s
Epistasis is 
Greek 
word meaning standing
 
over.
It was 
first 
used 
in 
1909 by Bateson 
to 
describe 
a
masking
 effect.
An 
interaction between a 
pair of loci, in 
which 
the 
phenotypic 
effect 
of one locus 
depends on the
genotype at 
the 
second
 
locus.
Genes whose phenotype
 
are
Expressed-epistatic
altered or
 
suppressed-hypostatic
undefined
Difference 
between dominance
 
and
epistasis
undefined
C
h
e
m
i
c
a
l
 
i
n
t
e
r
p
r
e
t
a
t
i
o
n
:
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.
undefined
Example
that
 
function
 
i
n
 
eye
 
Effects
 
of
 
two
 
genes
pigmentation in
 
Drosophila.
The genes are 
vermilion 
(v) 
and 
cinnabar
 
(cn).
Flies 
that are mutant for 
cn 
lack 
xanthommatin.  
They
have bright red eyes because 
of 
the  
drosopterin.
Mutant 
v 
flies 
also lack 
xanthommatin 
but for 
a
different 
reason. 
In 
these flies 
the 
pathway 
is
blocked because there is no functional 
V
 
enzyme.
undefined
K
i
n
d
s
 
o
f
 
E
p
i
s
t
a
t
i
c
 
I
n
t
e
r
a
c
t
i
o
n
s
In epistasis less than four phenotypes appear in
 
F2.
(і)
 
Dominant 
Epistasis.
 
(12:3:1)
(ii)
Recessive 
epistasis.(9:3:4)(Supplementary
 
interaction)
(iii)
Duplicate Recessive Genes (9:7) (Complementary
Genes)
(iv)
Duplicate Dominant Genes.
 
(15:1)
(v)
Duplicate Genes 
with 
Cumulative 
Effect
 
(9:6:1)
(vi)
Dominant Recessive Interaction
 
(13:3)
undefined
D
o
m
i
n
a
n
t
 
E
p
i
s
t
a
s
i
s
.
 
(
1
2
:
3
:
1
)
Dominant allele (eg.,A) of one gene hides the 
effect 
of
 
allele
of another gene (eg., B) and expresses itself
 
phenotypically.
The B allele (hypostatic) will be expressed only when
 
gene
locus A contains two recessive (aa)
 
alleles.
Thus,
 
the genotype
 
AA
 
BB
 
or
 
Aa Bb
 
and
 
AA
 
bb
 
or Aa
 
bb
produce the same
 
phenotype
 
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
undefined
Exampl
e
:
Studied in summer squash 
(
Cucurbita
 
pepo
)
Common fruit colors-white,yellow
 
&green
White (W) 
is dominant over colored
 
squash
Yellow 
(Y) 
is dominant over green
 
squash
Pure breeding white fruited variety 
is 
crossed
with the double recessive green 
variety,F1
hybrids are all
 
white
When 
the 
hybrids are selfed-white, yellow
&green 
fruited 
plants 
arise in the ratio of
 
12:3:1
The 
effect 
of
dominant 
gene 
’Y’
 
is
masked 
by
 
the
dominant 
gene
 
’W’
(epistatic
 
gene)
P
  
WWYY 
X
wwyy  
(w
h
i
t
e
)
 
 
(green)
F1
 
WwYy
(white)
 
(selfed)
F2
White:Yellow:Green
12
 
:
 
3
 
:
 
1
undefined
R
e
c
e
s
s
i
v
e
 
e
p
i
s
t
a
s
i
s
.
 
(
9
:
3
:
4
)
(
S
u
p
p
l
e
m
e
n
t
a
r
y
 
i
n
t
e
r
a
c
t
i
o
n
)
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.,
 
AA
or
 
Aa).
This will modify 
the 
ratio 
9:3:3:1 to 
ratio
 9:3:4
In
 
h
o
rses,
 
brown
 
co
a
t
 
co
l
or
 
(
B
)
 
i
s
 
d
o
m
i
na
n
t
 
ov
e
r
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.
undefined
D
u
p
l
i
c
a
t
e
 
R
e
c
e
s
s
i
v
e
 
G
e
n
e
s
 
(
9
:
7
)
(
C
o
m
p
l
e
m
e
n
t
a
r
y
 
G
e
n
e
s
)
Both the genes 
loci 
have 
homozygous 
recessive
alleles and 
both of 
them 
produce 
identical
phenotype.
Both dominant 
alleles 
are necessary 
to 
produce 
a
different 
phenotype. e.g.: AABB, AaBB, AaBb, in all
these
 
combinations.
Both the dominant 
alleles (A 
and B) are 
present
and 
they 
will produce a 
different
 
phenotype.
Whereas aaBB or bbAA, in which 
the 
other
dominant 
allele 
is absent, produces 
the 
normal
phenotype.
 
B
a
t
e
s
o
n
 
a
n
d
 
P
u
n
n
e
t
t
 
o
b
s
e
r
v
e
d
 
t
h
a
t
 
w
h
e
n
 
t
w
o
 
 
w
h
i
t
e
f
l
o
w
e
r
e
d
 
v
a
r
i
e
t
i
e
s
 
o
f
 
s
w
e
e
t
 
p
e
a
,
 
L
a
t
h
y
r
u
s
 
 
o
d
o
r
a
t
u
s
w
e
r
e
 
c
r
o
s
s
e
d
,
 
F
1
 
p
r
o
g
e
n
y
 
h
a
d
 
c
o
l
o
u
r
e
d
 
 
f
l
o
w
e
r
s
.
W
h
e
n
 
F
1
 
w
a
s
 
s
e
l
f
e
d
,
 
t
h
e
 
F
2
 
r
a
t
i
o
 
s
h
o
w
e
d
 
 
t
h
e
p
r
e
s
e
n
c
e
 
o
f
 
b
o
t
h
 
c
o
l
o
u
r
e
d
 
a
n
d
 
w
h
i
t
e
 
f
l
o
w
e
r
e
d
v
a
r
i
e
t
i
e
s
 
i
n
 
t
h
e
 
r
a
t
i
o
 
9
:
7
.
 
I
n
 
m
a
n
,
 
d
e
a
f
 
m
u
t
i
s
m
 
i
s
 
c
o
m
p
l
e
m
e
n
t
a
r
y
 
g
e
n
e
d
e
p
e
n
d
e
n
t
,
 
d
e
p
e
n
d
i
n
g
 
u
p
o
n
 
t
w
o
 
d
o
m
i
n
a
n
t
 
g
e
n
e
s
 
A
a
n
d
 
B
,
 
t
h
e
 
p
r
e
s
e
n
c
e
 
o
f
 
b
o
t
h
 
o
f
 
t
h
e
m
 
i
s
 
r
e
s
p
o
n
s
i
b
l
e
f
o
r
 
n
o
r
m
a
l
 
h
e
a
r
i
n
g
 
a
n
d
 
s
p
e
e
c
h
.
undefined
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
The 
purple 
pigment in corn 
requires 
that 
two
enzymes 
(controlled 
by 
two 
dominant alleles) must
be active 
for the 
pigment 
to
 
form.
 
Two 
white varieties of corn showing 
the 
genotypes
AAbb and aaBB, 
will 
produce a ratio of 
9/16 
purple
and
 
7/16
 
white
 
ears,
 
depending
 
upon
 
the
 
nine
different
 
possible
arran
g
ements
  
of
alleles)
 
for
the
these
chromos
o
mes
 
(
a
nd
characteristics.
undefined
Duplicate Dominant Genes.
 
(15:1)
The
 
d
omin
a
nt
 
alleles
 
of
 
bo
t
h
 
t
he
 
g
en
e
s
 
prod
u
ce
 
the
 
same
phenotypic 
effect 
giving the ratio
 
15:1.
 
At 
least 
one 
of the dominant allele 
is necessary 
for 
the
phenotypic 
effect. 
e.g. AABB, 
AaBb, Aabb, aaBB, 
aaBbgive 
one
phenotype.
 
In 
the 
absence 
of all the dominant genes 
(only in case 
of 
aabb),
the recessive phenotype will be
 
expressed.
T
h
e
 
d
u
p
l
i
c
a
t
e
 
g
e
n
e
s
 
a
r
e
 
a
l
s
o
 
c
a
l
l
e
d
 
p
s
e
u
d
o
a
l
l
e
l
e
s
undefined
Epistatic
alleles
Hyp
o
static
alleles
P
h
en
o
t
y
p
i
c
expression
aa
bb
Another
p
h
en
o
t
y
pe
aa
BB,
 
Bb
Same
ph
en
o
t
yp
e
AA,
 
Aa
b
b
AA,
 
Aa
Bb,
 
Bb
 
A
s
 
o
b
s
e
r
v
e
d
 
b
y
 
G
.
H
.
S
h
u
l
l
,
 
t
h
e
 
s
e
e
d
 
c
a
p
s
u
l
e
s
 
o
f
S
h
e
p
h
e
r
d
s
 
p
u
r
s
e
 
(
g
e
n
u
s
 
C
a
p
s
e
l
l
a
)
 
o
c
c
u
r
 
i
n
 
t
w
o
d
i
f
f
e
r
e
n
t
 
s
h
a
p
e
s
,
i.e. triangular and top
 
shaped.
 
When 
F
1 
individuals were self crossed, the 
F
2 
generation showed plants with triangular 
and 
top
shaped capsules in the ratio
 
15:1
(A and B) would produce plants with 
triangular-shaped
capsules.
aabb would produce plants with top shaped
 
capsules.F
2
phenotypic ratio 15(triangular) 
1(Top
 
shaped).
undefined
F
1
 
:
AaBb
(triangula
r
)
AB
AB
Ab
aB
Ab
AABB
(tr
iang
u
la
r
)
AABb
(tr
iang
u
la
r
)
AaBB
(tr
iang
u
la
r
)
AaBb
(triangular)
Ab
AABb
(tr
iang
u
la
r
)
AAbb
(tr
iang
u
la
r
)
AaBb
(tr
iang
u
la
r
)
Aabb
(tr
iang
u
la
r
)
aB
AaBB
(tr
iang
u
la
r
)
AaBb
(tr
iang
u
la
r
)
aaBB
(tr
iang
u
la
r
)
aaBb
(tr
iang
u
la
r
)
ab
AaBb
(tr
iang
u
la
r
)
Aabb
(tr
iang
u
la
r
)
aaBb
(tr
iang
u
la
r
)
aabb
(top-shape)
undefined
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.
 
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.
Non-allelic gene does not interact with
 
ss
SR
Sr
sR
Sr
SR
S
SR
R
(red)
S
SR
r
(red)
Ss
R
R
(red)
Ss
R
r
(
r
ed)
sR
SsRR
(red)
SsRr
(red)
ssRR
(s
a
nd
y
)
ssRr
(s
a
nd
y
)
sr
SsRr
(red)
Ssrr
(s
a
nd
y
)
ssRr
(s
a
nd
y
)
ssrr
(white)
SsRr
 
(
r
ed)
Sr
SSRr
(red)
SSrr
(s
a
nd
y
)
SsRr
(red)
Ssrr
(s
a
nd
y
)
2
F
:
F
1
 
:
undefined
Dominant 
Recessive 
Interaction
 
(13:3)
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 
F
2 
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.
I
n
 
L
e
g
h
o
r
n
 
f
o
w
l
,
 
t
h
e
 
w
h
i
t
e
 
c
o
l
o
u
r
 
o
f
 
f
e
a
t
h
e
r
 
i
s
f
o
r
m
e
d
 
b
y
 
C
C
I
I
 
(
d
u
e
 
t
o
 
t
h
e
 
p
r
e
s
e
n
c
e
 
o
f
 
e
p
i
s
t
a
t
i
c
g
e
n
e
 
I
)
.
S
i
m
i
l
a
r
l
y
 
i
n
 
P
l
y
m
o
u
t
h
 
R
o
c
k
 
f
o
w
l
 
t
h
e
 
w
h
i
t
e
c
o
l
o
u
r
 
o
f
 
f
e
a
t
h
e
r
 
i
s
 
f
o
r
m
e
d
 
b
y
 
c
c
i
i
 
(
d
u
e
 
t
o
 
t
h
e
a
b
s
e
n
c
e
 
o
f
 
d
o
m
i
n
a
n
t
 
C
 
g
e
n
e
)
.
Therefore C is suppressed by inhibitor 
gene
both in dominant 
(I) 
and recessive (ii)
 
condition.
P
 
:
×
CCII
(White
 
Leghorn)
ccii
(White 
Plymouth
 
Rock)
F
1
 
:
CcIi
(
w
hite)
CI
CI
Ci
cI
ci
CCII
(wh
i
te)
CCIi
(white)
CcII
(white)
CcIi
(white)
Ci
CCIi
(white)
CCii
(c
o
lo
r
ed)
CcIi
(white)
Ccii
(c
o
lo
r
ed)
cI
CcII
(wh
i
te)
CcIi
(white)
ccII
(white)
ccIi
(white)
ci
CcIi
(white)
Ccii
(c
o
lo
r
ed)
ccIi
(white)
ccii
(white)
undefined
Example:
Interaction 
involves 
an 
inhibitory 
factor 
which 
by
itself 
has 
no 
phenotypic
 
effect
But,
 
when
 
present
 
in
 
the
 
dominant
 
form
 
prevents
 
or
inhibits 
the 
expression 
of 
another 
dominant
 
gene
eg 
:.Malvidin 
in 
primula
 
flowers
Malvidin 
is 
a
 
O-Methylated 
anthocyanin
responsible 
for 
the 
blue 
pigments 
in 
Primula
polyanthus
 
plant
Synthesis 
of 
malvidin (blue) 
is 
controlled
by gene
 K
In
 
r
e
c
e
ssi
v
e
 
s
t
a
t
e
(
k
)
,
 
mal
v
i
d
in
 
is
 
not
synthesized
Prod
u
ct
i
on
 
is
 
suppressed
 
by
 
gene
 
D,
found 
at 
completely different
 
locus
D allele is dominant to K
 
allele
undefined
K
K
dd
(blue)
x
  
kkDD
(white)
KkDd
(s
e
lfed)
(white)
KkDd 
genotype 
will 
not
produce 
malvidin 
due
 
to
the 
presence 
of 
D
 
allele
Thus, 
white 
& 
blue
 
colored
flowers 
producing 
plants
are 
obtained 
in 
the 
ratio
 
of
13:3
Also 
known 
as
 
dominant
undefined
Reference
s
:
Hartl,D.L., & 
Jones,W.E., 
(1998) 
“Genetics 
Principles
and Analysis” ed: 
4
th 
Jones and Bartlett Publishers
International London,UK, pp:
 
19,20,61-63
 
Miko, I., (2008) Epistasis: Gene interaction 
and
phenotype effects. 
Nature Education
 
1(1)
Richards,J.E. & 
Hawley, 
R. S., 
(2010) 
The 
human
genome” 
ed: 
3
rd 
Academic Press, pp:
 
31
Verma,P.S.,
 
&
 
Agarwal,V.K.,
 
(2004)
 
“Cell
 
biology,
Genetics, Molecular 
Biology, 
Evolution and Ecology”
 
ed:
24
th
S
.Ch
a
nd
 
and
 
C
o
mpa
n
y
 
Ltd
,
Ram
 
N
a
ga
r
,
 
New
Delhi.
 
Pp:
 
45-56
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Epistasis is a phenomenon where the phenotypic expression of one gene is influenced by interactions with another gene. This concept, first introduced in 1909, plays a crucial role in genetics, affecting various traits and evolutionary processes. The difference between dominance and epistasis lies in the type of gene interaction involved. Chemical interpretation of genes and their products sheds light on how environmental factors can influence genetic outcomes. Various kinds of epistatic interactions like dominant epistasis, recessive epistasis, and duplicate gene effects demonstrate the complexity of genetic inheritance patterns. Understanding these interactions is essential for unraveling the mysteries of genetic diversity and trait expression.

  • Epistasis
  • Genetic interactions
  • Gene expression
  • Inheritance patterns
  • Molecular genetics

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  1. EPISTATIC GENE INTRACTION

  2. Introduction Chemical Interpretation Kinds of Epistasis Dominant Epistasis. Recessive epistasis ( ) (ii) (iii) Duplicate Recessive Genes (iv) Duplicate Dominant Genes (v) Duplicate Genes with Cumulative Effect (vi) Dominant Recessive Interaction References

  3. Epistasis is Greek word meaning standing over. It was first used in 1909 by Bateson to describe a masking effect. An interaction between a pair of loci, in which the phenotypic effect of one locus depends on the genotype at the second locus. Genes whose phenotype are Expressed-epistatic altered or suppressed-hypostatic

  4. Difference between dominance and epistasis Dominance Epistasis Involves intra-allelic gene interaction. Involves inter-allelic gene interaction. One allele hides the effect of other allele at the same gene pair. One gene hides the effect of other gene at different gene loci.

  5. Chemical interpretation: A gene is a chemical determiner. Gene products interact with the environment and factors such as temperature, light, hormones and enzymes. If intermediates, it can lead to another phenotype and hence disturb the Mendelian ratios. there is any problem or mutation in the

  6. Example that function in eye Effects pigmentation in Drosophila. of two genes The genes are vermilion (v) and cinnabar (cn). Flies that are mutant for cn lack xanthommatin. They have bright red eyes because of the drosopterin. Mutant v flies also lack xanthommatin but for a different reason. In these flies the pathway is blocked because there is no functional V enzyme.

  7. Kinds of Epistatic Interactions In epistasis less than four phenotypes appear in F2. ( ) Dominant Epistasis. (12:3:1) (ii) Recessive epistasis.(9:3:4)(Supplementary interaction) (iii) Duplicate Recessive Genes (9:7) (Complementary Genes) (iv) Duplicate Dominant Genes. (15:1) (v) Duplicate Genes with Cumulative Effect (9:6:1) (vi) Dominant Recessive Interaction (13:3)

  8. Dominant Epistasis. (12:3:1) Dominant allele (eg.,A) of one gene hides the effect ofallele of another gene (eg., B) and expresses itselfphenotypically. The B allele (hypostatic) will be expressed only when gene locus A contains two recessive (aa)alleles. Thus, the genotypeAABB orAa Bb andAAbb or Aabb produce the same phenotype genotype aa BB or aa Bb and aa bb produce twoadditional phenotype. This type of dominant epistasis modifies the classical ratioof 9:3:3:1 into 12:3:1

  9. Epistatic Hypostatic Phenotypic alleles alleles Expression aa bb b aa BB, Bb B AA, Aa Bb, Bb, bb A

  10. Example: Studied in summer squash (Cucurbita pepo) Common fruit colors-white,yellow &green White (W) is dominant over colored squash Yellow (Y) is dominant over green squash Pure breeding white fruited variety is crossed with the double recessive green variety,F1 hybrids are all white When the hybrids are selfed-white, yellow &green fruited plants arise in the ratio of 12:3:1

  11. The effect of dominant gene Y is masked bythe dominant gene W (epistatic gene) WY Wy wY wy / P WWYY X wwyy (white) F1 (white) (selfed) F2 White:Yellow:Green 12 : 3 : 1 WY WWY Y WWY y WwY Y WwYy WWY y WWyy WwYy WwY Y Ww Yy Wwy y wwY y wwy y (green) WwYy Wy wY WwYy wwYY wy Wwyy wwYy

  12. Recessive epistasis. (9:3:4) (Supplementary interaction) 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.,AA orAa). This will modify the ratio 9:3:3:1 to ratio 9:3:4

  13. Epistatic Hypostatic Phenotypic alleles alleles Expression aa BB, Bb, bb a AA,Aa BB, Bb B AA,Aa bb b

  14. 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.

  15. Duplicate Recessive Genes (9:7) (Complementary Genes) Both the genes loci have homozygous recessive alleles and both of them phenotype. produce identical Both dominant alleles are necessary to produce a different phenotype. e.g.: AABB, AaBB, AaBb, in all these combinations. Both the dominant alleles (A and B) are present and they will produce a different phenotype. Whereas aaBB or bbAA, in which the other dominant allele is absent, produces the normal phenotype.

  16. Epistatic Hypostatic Phenotypic alleles alleles Expression aa BB, Bb, bb No phenotype production AA, Aa,aa bb AA,Aa BB, Bb Phenotype due to dominant

  17. Bateson and Punnett observed that when two white flowered varieties of sweet pea, Lathyrus odoratus were crossed, F1progeny had coloured When F1was selfed, the F2ratio showed presence of both coloured and white flowered varieties in the ratio 9:7. flowers. the In man, deaf mutism is complementary gene dependent, depending upon two dominant genes A and B, the presence of both of them is responsible for normal hearing and speech.

  18. In this case dominant alleles on both locus are required hence wherever A and Bboth are present they result into purple effect masking the white. This is because A and B alleles modifiedthe colorless precursor by showing their effects

  19. The purple pigment in corn requires that two enzymes (controlled by two dominant alleles) must be active for the pigment to form. Two white varieties of corn showing the genotypes AAbb and aaBB, will produce a ratio of 9/16 purple and 7/16 white ears, depending upon the nine different possible arrangements chromosomes (and characteristics. of the alleles) for these

  20. Duplicate Dominant Genes. (15:1) The dominant alleles of both the genes produce the same phenotypic effect giving the ratio 15:1. At least one of the dominant allele is necessary for the phenotypic effect. e.g. AABB, AaBb, Aabb, aaBB, aaBbgive one phenotype. 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

  21. Epistatic Hypostatic Phenotypic alleles alleles expression Another aa bb phenotype Same aa BB, Bb phenotype AA,Aa bb AA,Aa Bb, Bb

  22. As observed by G.H.Shull, the seed capsules of Shepherd s purse (genus Capsella) occur in different shapes, two i.e. triangular and top shaped. When generation showed plants with triangular and top shaped capsules in the ratio 15:1 F1 individuals were self crossed, the F2 (A and B) would produce plants with triangular-shaped capsules. aabb would produce plants with top shaped capsules.F2 phenotypic ratio 15(triangular) 1(Top shaped).

  23. AABB (triangular) aabb P : (top-shaped) AaBb (triangular) F1: AB Ab aB ab AaBb AABb (triangular) AaBB (triangular) AABB (triangular) AB (triangular) Aabb AAbb AaBb AABb Ab (triangular) (triangular) (triangular) (triangular) aaBb AaBb aaBB AaBB aB (triangular) (triangular) (triangular) (triangular) aabb Aabb aaBb AaBb Ab (triangular) (triangular) (triangular) (top-shape)

  24. 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, phenotypic expression separately. they give their own In the absence of any dominant allele, the recessive allele is expressed.

  25. Epistatic Hypostatic Phenotypic alleles alleles expression aa bb Neither a nor b aa BB, Bb B only AA,Aa bb Aonly AA,Aa Bb, Bb A+B mutually supplement

  26. 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. Non-allelic gene does not interact with ss

  27. P : SSrr (sand ssRR (sandy) SsRr (red) F1: SR sR sr Sr SsRr SSRR SsRR (red) SSRr (red) SR F : 2 (red) (red) SsRr Ssrr SSrr SSRr Sr (red) (sandy) (sandy) (red) ssRR ssRr SsRr SsRR sR (sandy) (sandy) (red) (red) SsRr ssRr ssrr Ssrr Sr (red) (sandy) (white) (sandy)

  28. Dominant Recessive Interaction (13:3) The heterozygous condition, of one gene and the homozygous recessive allele (bb) of other gene produces the same phenotype. dominant allele (A), either in homozygous or In F2generation, 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.

  29. Epistatic Hypostatic Phenotypic alleles alleles expression aa Bb, BB, bb a doesn t inhabit B or b AA, Aa Bb, Bb , bb A inhibit B orb

  30. 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). Therefore C is suppressed by inhibitor gene both in dominant (I) and recessive (ii) condition.

  31. CCII ccii P: (White Leghorn) (White Plymouth Rock) CcIi (white) F1: Ci cI ci CI CcIi CCII CCIi (white) CcII (white) CI (white) (white) CCii CcIi Ccii CCIi (white) Ci (colored) (white) (colored) CcII CcIi ccII ccIi cI (white) (white) (white) (white) CcIi Ccii ccIi ccii ci (white) (colored) (white) (white)

  32. Example: Interaction involves an inhibitory factor which by itself has no phenotypiceffect But, when present in the dominant form prevents or inhibits the expression of another dominantgene eg :.Malvidin in primula flowers Malvidin is a O-Methylated responsible for the blue pigments in Primula polyanthus plant anthocyanin

  33. Synthesis of malvidin (blue) is controlled by gene K In recessive state(k), malvidin is not synthesized Production is suppressed by gene D, found at completely different locus D allele is dominant to K allele

  34. KKdd (blue) x kkDD (white) KkDd (selfed) (white) KD Kd kD kd / KD KKD D KKD d KkD D KkDd Kd KKD d KkD D KkDd KKdd KkDd Kkdd kD KkDd kkDD kkDd kd Kkdd kkDd kkdd

  35. KkDd genotype will not produce malvidin dueto the presence of Dallele Thus, white & bluecolored flowers producing plants are obtained in the ratioof 13:3 Also known as dominant

  36. References: Hartl,D.L., & Jones,W.E., (1998) Genetics Principles and Analysis ed: 4thJones and Bartlett Publishers International London,UK, pp: 19,20,61-63 Miko, phenotype effects. Nature Education 1(1) I., (2008) Epistasis: Gene interaction and Richards,J.E. & Hawley, R. S., (2010) The human genome ed: 3rdAcademic Press, pp: 31 Verma,P.S., & Agarwal,V.K., Genetics, Molecular Biology, Evolution and Ecology ed: 24thS.Chand and Company Ltd,Ram Delhi. Pp: 45-56 (2004) Cell biology, Nagar, New

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