Pleiotropy: One gene influences more than one trait

2 Phenotypes: 1 Gene, 2 Alleles

Shape and Color 3 Genotypes
PP

Pp

pp
Map
Phenotype: the observable physical state of an organism. Its
morphology, physiology, and behavior.

Genotype: the genetic state of an organism.

 The Reason for Mendel’s Success
Mendel discovered the MAP from Phenotype to Genotype
because, for all 7 of Mendel’s traits in peas, the MAP was SIMPLE:

2 Phenotypes 3 Genotypes

YY Homozygote
Dominant
Yy Heterozygote
Recessive yy Homozygote
Map indirectly
directly
Observed Inferred
traits genes
Pure-breeding X
Parents with 1trait

F1 X

F2 9 3 4
Epistasis for Coat Color in the Laborador Retriever:
Epistasis:Two (or more) genes interact to cause one phenotype.

BB Bb bb

EE

Ee

ee
With Epistasis the Map from Genotype to Phenotype is COMPLEX
Complex Map of Coat Color Trait to Multi-Gene Genotypes

3 Phenotypes 9 Genotypes

BBEE
BBEe
BbEE
BbEe

bbEE
bbEe

BBee
Bbee
bbee
Epistasis = Gene B’s Effect on phenotype, v, changes
with the genotype at a Different Locus, E:
BB bb

BB bb
Effect of B is Large
Phenotypic Effect of B

+0.25

Effect of B is Small
0.00
EE ee
Background Genotype at the E locus
 For most traits, the ENVIRONMENT also
Affects the MAP between Phenotype and Genotype

3 Phenotypes 3 Environments 1 Genotype

Average Nutrition CC

This variation in phenotype is caused by variation in the

environment and NOT by variation in genotype
 For Mendel there was No Effect of Environment:
map of Genotype to Phenotype was constant
so that Phenotypic Variation
was caused by Genotypic Variation
YY
Phenotype: Seed

Yy
Color

yy

Cold Temperate Hot

Environment

Each line on this graph is called a “Norm of Reaction”::

The range of phenotypes produced by ONE genotype when that
genotype is reared across a series of different environments.
 Most traits are affected by the Environment:
which changes the
Relationship of Genotype to Phenotype
Phenotype: Size

CC

Poor Average Excess

Environment
The line on this graph is the “Norm of Reaction”
for genotype CC: ONE genotype-THREE phenotypes
 For most traits, the ENVIRONMENT
Affects the MAP between Phenotype and Genotype

3 Phenotypes 3 Environments 3 Genotypes

Cc
Average
CC

cc

The Environment makes the MAP between Phenotype and Genotype

Many to Many instead of One to One.
 CcDD
Average
CCDd

ccdd

Gene action makes the MAP between Phenotype and Genotype

Many to Many instead of One to One:

Pleiotropy: one gene affects two or more traits.

Epistasis: two or more genes affect one trait.
 Two phenotypes of the barnacle
Chthamalus anisopoma

Bent morph - more resistant to snail predation,

but less fecund

Straight Morph – less resistant to snail predation

but more fecund
Trade-off !!

The predatory snail

Acanthina angelica
 For most traits, there are effects of Environment:
which change the
Relationship of Genotype to Phenotype
Phenotype: Shell
Shape

Without With

Environment
 Temperature-dependent sex determination

Barber’s Map Turtle, Graptemys barbouri

Photo: Steven Freedberg

Adult Male Adult Female

<28.5 °C >29.0 °C
Environment of Egg determines Sex of the Turtle!
 For Mendel, there was no effect of other Genes =
Relationship of Genotype to Phenotype was
Constant

YY
Phenotype: Seed

Yy
Color

yy

ww Ww WW
Genetic Background at Another Gene
 For Mendel, there was no effect of Environment =
Relationship of Genotype to Phenotype was
Constant

YY
Phenotype: Seed

Yy
Color

yy

cold intermediate hot

Environments
 For most traits, there are Pleiotropy, Epistasis
and Environmental Effects on Phenotype

Cold Environment Hot Environment

AA Aa aa AA Aa aa

EE EE

Ee Ee

ee ee
 Effects of Environment and Epistasis and
Pleiotropy greatly complicate Mapping of
Genotype onto Phenotype

• Different Phenotypes do not necessarily

indicate Different Genotypes.
• Similar Phenotypes do not necessarily indicate
Similar Genotypes.
• Environment and Epistasis and Pleiotropy
make the MAP between Genotype and
Phenotype Many-to-Many
 How do we study a Many-to-Many
Map of Genotype and Phenotype?

• We want to know “How much variation in a

phenotype is caused by genetic differences among
individuals?” (“nature”)
• We want to know “How much variation in a
phenotype is caused by environmental differences
among individuals?” (“nurture”)
• What are the environmental vs genetic causes of
the differences in morphology, behavior, and
physiology among individuals.
 Hot:

A Population with Phenotypic

Variation among its Members
Temperate
Cold:

AA AA AA

Aa Aa Aa

aa aa aa
 Controlled Breeding Experiments
• Make crosses between different individuals and
obtain offspring.
• Measure the morphology, behavior, physiology of
each offspring.
• Estimate the genetic causes of the offspring
variation by measuring the “degree of
resemblance” among genetic relatives.
• Genetic Relatives: (1) Parent-Offspring, (2)
Brother-Sister, (3) Half-Siblings (same father,
different mothers).
 Heredity is the Cause of Resemblance
between Genetic Relatives
• Different kinds of relatives may share more
or less phenotypic resemblance.
• Diploid Genetic Relatives:
(1) Parent-Offspring: share ½ of their
genes.
(2) Brother-Sister: share ½ of their genes.
(3) Half-Siblings (same father, different
mothers): share ¼ of their genes.
 Non-Genetic Causes of Resemblance among
Genetic Relatives
• Similar environments: Genetic relatives often
grow up in similar environments and individuals
reared in the same environment may be more
similar to one another than individuals reared in
different environments.

• Maternal Effects: Mother is a “special

environment,” she provides both genes and
nutritional environment. In mammals, these
effects begin in utero.
 In nature, the MATERNAL ENVIRONMENT
Affects the MAP between Phenotype and Genotype

1 Phenotype 1 MOM 2 Genotypes

Cc

cc

Siblings are Similar Genetically

Siblings are Similar Environmentally (through mother)
 Paternal Half-Sibs

1 x 1 2 3 2 4 5 6
x

Half-sibs
Half-sibs Of
Of Male 2
Male 1

Resemblance? Difference? Resemblance?

 Half-sib Breeding Design

1 x1 2 3 2 x3 4 5 10 x 28 29 30

E1

E2

E3
 Half-sib Breeding Design: Genetic Effect = Column Differences
1 x1 2 3 2 x3 4 5 10 x 28 29 30

E1

E2

E3
 Half-sib Breeding Design: Environmental Effect = Row Differences
1 x1 2 3 2 x3 4 5 10 x 28 29 30

E1

E2

E3
 Half-sib Breeding Design: Environmental AND Genetic Effects
1 x1 2 3 2 x3 4 5 10 x 28 29 30

E1

E2

E3
 Difficulties with Human Genetics
• Cannot impose breeding designs on human
population. Therefore cannot separate non-
genetic maternal effects from genetic effects.
• Cannot rear offspring of same parents in different
environments: Therefore cannot separate non-
genetic environmental effects from genetic
effects.
• Debate over “Nature vs Nurture” cannot be
experimentally resolved in humans.