POLYGENIC INHERITANCE

INTERACTIONS BETWEEN
GENES
 Polygenic inheritance

• When single genes affect one character 

discontinous variation (categories)
• Most characters such as height or mass
and even eye colour, show continuous
variation
• May be due to an environmental influence
such as diet and/
or the interaction of several genes.
 Polygenic traits
• These are determined by the cumulative
effects of genes and the influence of
environment
• Polygenic traits
 Traits controlled by two or more genes
 Patterns of inheritance that can be measured
quantitatively
 Polygenic Inheritance

• Two or more genes contribute to the phenotype

• Phenotypic expression varies across a wide
range
 Best expressed in populations rather than
individuals
• Interactions with the environment often
participate in creating the phenotype
 Traits such as height, weight, skin color, eye color,
and intelligence are under polygenic control
 Polygenic Inheritance

 The distribution of polygenic traits through

18
16
the population follows a bell-shaped
14 (normal) curve
Percentage of men

12
10
08
06
04
02
0
50 55 60 65 70 75 80 85
Phenotype (height in inches)
A Multifactorial Polygenic Trait:
Skin Color

 Skin color is controlled by 3 or 4 genes

and environmental factors leading to a
wide range of phenotypes
 Exposure to the sun can alter skin color and
obscure genotypic differences.
The Additive Model of Polygenic Inheritance

 As the number of genes involved increase, the

number of phenotypic classes increases
 Example (controlled by these conditions):
 The trait is controlled by 3 genes, each has 2 alleles
(A,a,B,b,C,c)
 Each dominant allele makes an equal contribution to the
phenotype and recessive alleles make no contribution.
 Effect of each active (dominant) allele is small and additive
 Genes controlling height are not linked – sort independently
 Environment acts equally on all genotypes
The Additive Model of Polygenic
Inheritance

• Full expression of the height genotype

depends on the environment
 Poor nutrition during childhood can prevent
people from reaching their potential heights
 Optimal nutrition from birth to adulthood
cannot make someone taller than genotype
dictates
 A Polygenic Trait: Eye Color

 Five basic eye colors fit a model with two

genes, each with two alleles
The interaction of two genes
 Gene complex

Has p…r… Has P…r… Has p…R… Has P…R…

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 Comb shape in chickens

• These can come in four shapes which are

controlled by two non-linked genes P and
R
• Each gene has two alleles, one dominant
(P and R) and one recessive (p and r)
• Crossing Pure breeding Rose type (ppRR)
with Peas (PPrr) type gives Walnut (PpRr)
as the F1
 Comb shape in chickens

An incestuous cross of the Walnut F1

produces all four types of comb in the F2

PR Pr pR pr
PR Walnut Walnut Walnut Walnut
Pr Walnut Pea Walnut Pea
pR Walnut Walnut Rose Rose
pr Walnut Pea Rose Single
 Comb shape in chickens

• What must be the genotypes for each of

these phenotypes?

Walnut ……………………..
Pea ……………………..
Rose ……………………..
Single ……………………..
 Comb shape in chickens

Walnut P_R_
Pea P_rr
Rose ppR_
Single pprr
At times Unusual ratios result
e.g in epistasis
• Epistasis is a gene interaction where one
gene controls the effect of another gene
located on a different locus on the same
chromosome
Epistatic versus Hypostatic

• The gene that are controlling the

effect are called epistatic gene
• The gene whose effect is being
controlled are called the hypostatic
gene.
Epistasis

 Recessive epistasis, caused by recessive alleles, aa

masks the effect of B at another locus.
 Dominant epistasis, A masks the effect of B.

 Complementary genes: Both need to be present

for either to work

 Supplementary genes: the second gene adds more

to the first.
 Recessive epistasis
coat color determination in rodents:
Two loci involved (agouti = color banded hairs,
~grey):
1. C allele determines pigment (C- = pigment,
c = albino)
2. A allele determines agouti factor (A- =
Agouti; a = black)

.
Fig. 13.11,
Recessive epistasis
F2: 9:3:4
Trial question: Recessive epistasis,

1. Cross true-breeding agouti (AACC) with

albino (aacc). Determine the F2
phenotypic ratio
 Recessive epistasis:
Labrador Retrievers

• Fur color in Labrador Retrievers is controlled by

two separate genes.
 Fur color is a polygenic trait!

Gene 1: Represented by B
: Controls color

Gene 2: Represented by E
: Controls expression of B
 Recessive epistasis:
Labrador Retrievers
• If a Labrador retriever
has a dominant B allele,
they will have black fur.

• If they have two

recessive alleles (bb)
they will have brown fur.
 Recessive epistasis:
Labrador Retrievers

• If a retriever receives at least one

dominant “E” allele, they will remain the
color that the ‘B’ or ‘b’ allele coded for.
 Either black of brown

• However, if a dog receives a pair of

homozygous recessive “e” alleles, they
will be golden regardless of their “B” or ‘b’
alleles!
 Recessive epistasis:
Labrador Retrievers
• BBEE, BbEE, BBEe and BbEe --> Black
retrievers
• bbEE and bbEe --> Brown retrievers
• BBee, Bbee, or bbee --> Golden retrievers
 Recessive epistasis:
Also, try this cross …

1. You have decided to cross your golden

retriever (bbee) with the neighbor’s brown
retriever (bbEe). Determine the F2
phenotypic ratio of the pups.
 Dominant Epistasis

• Let’s have a look at dominant epistasis…

• Pumpkins/Squash fruit color is controlled

by two genes.

• Gene 1 is represented by a W
• Gene 2 is represented by a G

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 Pumpkins/Squash Fruit
Color
• Genotypes and
Phenotypes:

• W-/G- white
• W-/gg white
• ww/G- green
• ww/gg yellow

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Pumpkins/Squash Fruit Color

• Which allele is epistatic in pumpkin’s

color?
The dominant W allele is epistasis

• How do you know?

Because every time a dominant W allele
shows up in a squash genotype, the squash
fruit color is white.
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 Try this cross….

• Cross a green pumpkin (wwGg) with a

white one (Wwgg).

• What color are the offspring?

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Also try this cross….

• In white leghorn fowl, plumage colour is

controlled by two sets of genes, including
the following
 W (White) dominant over w(colour)
 B (Black) dominant over b (brown)
• The heterozygous F1 genoptype WwBb is
white, explain why
• Carryout a cross between two fowls of the
F1 generation
 Complementary genes: Both need to be present for either to work.

F P P p pc
PPc ppC
2 P C c C
c C
C
P
PpC
c pc
C
pc
What will the genotype ratio be
for this cross?
9:7
Try him.
Mad! Think 9:3:3:1, but group the last 3 sets.

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Supplementary genes : the second gene adds more to the first.

Coat color in Labrador retrievers is controlled by two genes (B

and E).
At least one dominant allele for both genes is required to
produce a black dog (B_E_).

Dogs homozygous for the recessive allele b that have at least

one dominant E allele (bbE_) are brown and dogs homozygous
recessive for E (ee) are always yellow.

a. What are the genotypes of two black parental dogs that,

when mated, produce black puppies, yellow puppies and
brown puppies?

b. What proportions of black and yellow puppies do you expect

from this cross?

c. This cross is an example of a what type of gene interaction?

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 Practice Problem
In a plant, a tall variety was crossed with a dwarf variety. All F1
plants were tall. When two F1 plants were interbred, 9/16 of the F2
were tall and 7/16 were dwarf.

Explain the inheritance of height by a) indicating the number of gene

pairs involved and b) by designating which genotypes yield tall and
which yield dwarf.

1. When studying a single character, a ratio expressed in 16 parts

suggests that two gene pairs are “interacting” during the
expression of the phenotype.

2. A 9:7 ratio implies a dihybrid condition with complementary

gene interaction.
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 Conclusion on Epistatic Gene
Interactions
• Crosses performed can be illustrated in general by
 AaBb X AaBb
 Where A is dominant to a and B is dominant to b
• If these two genes govern two different traits
 A 9:3:3:1 ratio is predicted among the offspring
 simple Mendelian dihybrid inheritance pattern
• If these two genes do affect the same trait the
9:3:3:1 ratio may be altered
 9:3:4, or 9:7, or 9:6:1, or 8:6:2 or 12:3:1, or 13:3, or 15:1
 epistatic ratios

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The interaction of three or more
genes
More genes interacting
= more variety in the offspring

• In the coat colour of mice the are several

genes interacting to produce a range of
different coat colours
• Three of these genes are A, B and C.
Mouse coat colour revisited
• The A gene controls the production of a small
yellow band near the end of each hair. If the hair
is black, this gives rise to Agouti (mousy) coat. If
brown, it gives rise to cinnamon
• The recessive allele gives Non-agouti
• The B gene give the ground colour Black
• The recessive allele gives chocolate/Brown
colour. The C gene controls the expression of the
coat colour genes as a whole
• The recessive allele gives Albino.
 Mouse coat colour revisited

• Crossing pure breeding Wild Type (AABBCC) to

Albino (aabbcc) gives Wild type offspring in the
F1 (AaBbCc)
• The F2 produced from these gives 5 types of
coat colour:
Wild Type (“mousy” or agouti),
Black,
Chocolate/brown,
Cinnamon,
Albino.
Mouse coat colour revisited
 Mouse coat colour revisited

What must appear in the genotypes of :

Wild type ………………….

Black ………………….
Chocolate ………………….
Cinnamon ………………….
Albino ………………….
 Mouse coat colour revisited

Wild type A_ B_ C_
Black aa B_ C_
Chocolate aa bb C_
Cinnamon A_ bb C_
Albino _ _ _ _ cc
The more genes that interact the greater the range
of phenotypes produced
This ultimately leads to a continuous distribution
of traits where one blends into another.
 Human skin pigmentation
• Initially this was thought to be controlled by
two genes P1 and P2
• These control the production of the protein
melanin

• P1P1P2P2 gives black skin

• p1p1p2p2 gives white skin

• Crossing these would lead to brown

• Crossing two brown skinned people would
lead to a range of possible skin colours.
 Human skin pigmentation

F1 Phenotype Brown X Brown

Genotype P1p1P2p2 P1p1P2p2
F2 P1P2 P1p2 p1P2 p1p2
P1P2
P1p2
p1P2
p 1 p2
 Human skin pigmentation

• This would produces a range of 5 different

shades with a normal distribution
• That is to say a bell shaped curve

• This does not fit with what is observed

• There are far more shades than this observed in
“black” and “white”
• Observations on the human population suggest
that it is controlled by four or more genes at
different loci.
 Multifactorial Traits
• Variations in expression of polygenic traits often are due
to the action of environmental factors
• Multifactorial or complex traits are polygenic traits with a
strong environmental component
• Epigenetics – a new field helps us to understand and to
explain how our cells can selectively turn on or off
different gene sets in response to environmental factors.
• Characteristics
 Traits are polygenic
 Each gene controlling the trait contributes a small amount to
the phenotype
 Environmental factors interact with the genotype to produce
the phenotype
 Summary question

• QN: Explain how polygenic inheritance

leads to continuous variation
END