Recessive masking epistasis

Recessive masking epistasis
–
In recessive masking epistasis, a homozygous recessive genotype will mask the expression of another
gene.
–
Example: Labrador Retriever coat colour
o Two genes involved, three possible phenotypes
 B_E_ = black lab
 bbE_ = chocolate lab
 _ _ ee = yellow lab
o When homozygous ee present, coat colour will be yellow regardless of what the alleles on the
other gene are
o The homozygous ee genotype is epistatic to the coat colour “B” gene
Cross 1: BBEE x bbee
be
be
be
be
BE
BbEe
BbEe
BbEe
BbEe
BE
BbEe
BbEe
BbEe
BbEe
BE
BbEe
BbEe
BbEe
BbEe
BE
BbEe
BbEe
BbEe
BbEe
All offspring (100%) would be heterozygous for both traits and puppies would have a black coat.
Cross 2: BbEe x BbEe
BE
Be
bE
be
BE
BBEE
BBEe
BbEE
BbEe
Be
BBEe
BBee
BbEe
Bbee
bE
BbEE
BbEe
bbEE
bbEe
be
BbEe
Bbee
bbEe
bbee
9/16 puppies would be black
4/16 puppies would be yellow
3/16 puppies would be chocolate
Dominant masking epistasis
–
In dominant masking epistasis, the presence of at least one dominant allele in one gene (homozygous or
heterozygous) will mask the expression of another gene.
–
Example: Horse coat colour
o Two genes involved, three possible phenotypes
 G_ _ _ = gray horse at maturity
 gg_ _ = horse is not gray
 ggE _ = black horse
 ggee = chestnut horse
o When the dominant “G” allele is present, the horse will be gray at maturity because the
expression of this dominant allele is masking the phenotypic expression of the second gene.
When the genotype is homozygous, gg, the phenotype (coat colour) of the second gene can be
expressed, and the horse will not be gray
o The “E” genotype varies based on the dominant or recessive combination of alleles
o The dominant allele in the “G” genotype is epistatic to the “E” gene
Cross: GGEE x ggee
ge
ge
ge
Ge
GE
GgEe
GgEe
GgEe
GgEe
GE
GgEe
GgEe
GgEe
GgEe
GE
GgEe
GgEe
GgEe
GgEe
GE
GgEe
GgEe
GgEe
GgEe
All offspring (100%) would be heterozygous for both traits and all horses gray at maturity.
Cross: GgEe x GgEe
GE
Ge
gE
ge
GE
GGEE
GGEe
GgEE
GgEe
Ge
GGEe
GGee
GgEe
Ggee
gE
GgEE
GgEe
ggEE
ggEe
ge
GgEe
Ggee
ggEe
ggee
12 horses would be gray at maturity
3 horses would be black
1 horse would be chestnut
Modifying epistasis
–
In modifying epistasis, the expression of a gene at one locus (location) modifies or changes the expression
of the phenotype of another gene
–
Example: Doberman coat colour
o
o
o
Two genes involved, four possible phenotypes
 B_D_ = black dog
 bbD_ = red dog
 B_dd = blue (faded black) dog
 Bbdd = fawn (faded red) dog
When the “D” genotype is homozygous recessive, dd, it acts to modify the phenotypic expression
of the “B” gene by fading the colour, creating two new phenotypes.
The homozygous recessive “D” genotype is epistatic to the “B” gene.
Cross: BBDD x bbdd
bd
bd
bd
bd
BD
BbDd
BbDd
BbDd
BbDd
BD
BbDd
BbDd
BbDd
BbDd
BD
BbDd
BbDd
BbDd
BbDd
BD
BbDd
BbDd
BbDd
BbDd
All offspring (100%) would be heterozygous for both traits and would have a black coat.
Cross: BbDd x BbDd
BD
Bd
bD
bd
BD
BBDD
BBDd
BbDD
BbDd
Bd
BBDd
BBdd
BbDd
Bbdd
bD
BbDD
BdDd
bbDD
bbDd
bd
BbDd
Bbdd
bbDd
bbdd
9 dogs would be black
3 dogs would be red
3 dogs would be blue (faded black)
1 dog would be fawn (faded red)