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LECTURE 7

Extensions of
Mendel's First Law
(Chapter 4)
Slides: ALL

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INTRODUCTION
Mendel's First Law states that:
Adults are diploid; gametes are haploid
Each trait is controlled by a single gene

For the traits Mendel studied in pea, the following were


also true:

Each gene has two alternative alleles


One allele is completely dominant over the other
All gametes are equally viable
Mating is random
All offspring are equally viable
Genotype always determines phenotype

Hence Mendel observed a 3:1 phenotypic ratio when two


heterozygotes (dihybrids) are crossed

INTRODUCTION
In this lecture we will examine traits that do not
result in a 3:1 phenotypic ratio when two dihybrids
(heterozygotes) are crossed
Can be due to one of two reasons
Extensions: Mendel's First Law is operating (adults
are diploid and gametes are haploid one gene controls
the trait) but some of the other assumptions underlying
the 3:1 phenotypic ratio are not met
Violations: Mendel's First Law is NOT operating
Adults are not always diploid; gametes are not always haploid
More than one gene controls the trait

Mendel

Extension OR Violation

One allele is completely


dominant over the other
in all instances

EXTENSION: Alleles may be Incompletely


Dominant or Codominant; alleles can be
dominant in one sex and recessive in the other
(Sex Influenced); some alleles are expressed in
only one sex (Sex Limited)

All offspring from a cross


are equally viable

EXTENSION: Some genotypes survive better than


others; some genotypes may actually be fatal;
Overdominance, lethal alleles, semi-lethal alleles

Genotype does not always


determine phenotype

EXTENSION: AA does not always exhibit the


dominant phenotype, etc. Incomplete
penetrance, variable expressivity

Adults are diploid for all


genes and gametes are
haploid for all genes

VIOLATION: Males are haploid for X-linked genes;


gametes are nulliploid; Females are nulliploid for
Y (Sex linkage); Some adults have more than two
sets of genes (polyploidy); Some "adults" are
halpoid (haploidy - e.g. yeast); Some organisms
are both (Alternation of generations - e.g. moss)

More than one gene


controls a trait

VIOLATION: Often (in fact most of the time) traits


are controlled by more than one gene (Gene
interactions)

Complete Dominance
In a simple dominant/recessive relationship, the
recessive allele does not affect the phenotype of the
heterozygote
Usually, the mutant allele is recessive to the wild-type
because of one of the following:
1. 50% of the normal protein is enough to accomplish the
proteins cellular function
Refer to Figure 4.2
2. The heterozygote may actually produce more than 50% of
the functional protein
The normal gene is up-regulated to compensate for the
lack of function of the defective allele

Figure 4.2
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Dominant (functional) allele: P (purple)


Recessive (defective) allele: p (white)

Genotype

PP

Pp

pp

Amount of
functional
protein P

100%

50%

0%

Phenotype

Purple

Purple

White

Simple dominant/
recessive
relationship

But ... mutations are sometimes dominant


Much less common than recessive
Three explanations for most dominant mutations
Gain-of-function
Protein encoded by the mutant gene is changed so it gains a
new or abnormal function

Dominant-negative
Protein encoded by the mutant gene acts antagonistically to
the normal protein (also called a "poisonous allele")

Haploinsufficiency
mutant is loss-of-function
heterozygote does not make enough product to give the wild
type phenotype

Incomplete Dominance
In incomplete dominance the heterozygote exhibits a
phenotype that is intermediate between the
corresponding homozygotes and different from either one
Example:
Flower color in the four oclock plant
Two alleles
CR = wild-type allele for red flower color
CW = allele for white flower color
Note how the nomenclature has changed from Cc to
superscripts ("C" is still the gene)

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Figure 4.3
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Red

White

P generation

CRCR

Gametes CR

1:2:1 phenotypic
ratio NOT the 3:1
ratio observed in
simple Mendelian
inheritance

CW CW

CW

Pink
F1 generation
CRCW

Gametes CR or CW
Self-fertilization

Sperm
F2 generation

CR

CW

CRCR

CRCW

CRCW

CW CW

CR
Egg
CW

In this case, 50% of


the CR protein is not
sufficient to produce
the red phenotype

Incomplete Dominance
Whether a trait is dominant or incompletely
dominant may depend on how closely the trait is
examined
Take, for example, the characteristic of pea shape
Mendel visually concluded that
RR and Rr genotypes produced round peas
rr genotypes produced wrinkled peas
However, a microscopic examination of round peas
reveals that not all round peas are created equal
Refer to Figure 4.4

Figure 4.4
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Dominant (functional) allele: R (round)


Recessive (defective) allele: r (wrinkled)
Genotype

RR

Rr

rr

Amount of functional
(starch-producing)
protein

100%

50%

0%

Phenotype

Round

Round

Wrinkled

With unaided eye


(simple dominant/
recessive relationship)
With microscope
(incomplete
dominance)

Codominance
In Codominance, heterozygotes express the
phenotypes of both parents
The ABO blood group provides an example
Phenotype (A, B, AB or O) is determined by the type of
antigen present on the surface of red blood cells
Antigens are substances that are recognized by
antibodies produced by the immune system

As shown in Figure 4.11, there are three different


alleles that determine which antigen(s) are present
on the surface of red blood cells
Allele IA, adds antigen A to H antigen
Allele IB, adds antigen B to H antigen
Allele i, doesn't add anything to H antigen

Allele i is recessive to both IA and IB


Alleles IA and IB are codominant
They are both expressed in a heterozygous individual

Antigen A

Antigen B

RBC

RBC

Antigen A

Antigen B

H antigen
RBC

N-acetylgalactosamine

Galactose

RBC

Blood type:

AB

Genotype:

ii

IAIA or IAi

IBIB or IBi

IAIB

neither A or B
against A and B

A
against B

B
against A

Surface antigen:
Serum antibodies:
(a) ABO blood type

Figure 4.11a

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A and B
none

The carbohydrate tree on the surface of RBCs is


composed of three sugars (H antigen)
A fourth can be added by the enzyme glycosyl
transferase
The i allele encodes a defective enzyme
The carbohydrate tree is unchanged

IA encodes a form of the enzyme that can add the sugar


N-acetylgalactosamine to the carbohydrate tree
IB encodes a form of the enzyme that can add the sugar
galactose to the carbohydrate tree
Refer to Figure 4.11b

Thus, the A and B antigens are different enough to


be recognized by different antibodies

Figure 4.11c

Antigen A

Glycosyl transferase
encoded by IA allele
Active
site
RBC

N-acetylgalactosamine
Glycosyl transferase
encoded by IB allele

RBC

Antigen B
Active
site
RBC

Galactose
(c) Formation of A and B antigen by glycosyl transferase

RBC

For safe blood transfusions to occur, the donors


blood must be an appropriate match with the
recipients blood
For example, if a type O individual received blood
from a type A, type B or type AB blood
Antibodies in the recipient blood will react with antigens in
the donated blood cells
This causes the donated blood to agglutinate
A life-threatening situation may result because of clogging
of blood vessels

Sex-influenced Traits
Traits where an allele is dominant in one sex but
recessive in the opposite sex
Thus, sex influence is a phenomenon of heterozygotes

Sex-influenced does not mean sex-linked!!


Most sex-influenced traits are autosomal

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Sex-influenced Traits
Example: Pattern baldness in humans
Controlled by an autosomal gene with two alleles
Allele B* is dominant in males, but recessive in
females
Genotype

Phenotype
in Males

Phenotype
in Females

B*B*

pattern-bald

late onset hair loss

BB*

pattern-bald

nonbald

BB

nonbald

nonbald

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Sex-influenced Traits
Pattern baldness in humans
In males, this trait is characterized by loss of hair on front
and top of head but not on the sides

National Parks Service, Adams National Historical Park

(a) John Adams (father)

National Parks Service, Adams National Historical Park

b) John Quincy Adams (son)

Bettmann/Corbis

National Parks Service, Adams National Historical Park

(c) Charles Francis Adams


(grandson)

(d) Henry Adams


(great-grandson)

Figure 4.15
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Sex-influenced Traits

Pattern baldness appears to be related to the


production of the male sex hormone testosterone
Pattern baldness results from overexpression of
a gene that converts testosterone to 5- dihydrotestosterone (DHT) which binds to
cellular receptors and alters expression of many
genes
In females, heterozygotes (Bb) are not bald
Women who are homozygous for the baldness
allele (BB) will develop the trait, characterized by
a significant thinning of the hair relatively late in
life
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The autosomal nature of pattern baldness has


been revealed by analysis of human pedigrees

Refer to Figure 4.16

Bald fathers can pass


the trait to their sons

I-1

IV-1

IV-2

I-2

II-1

II-2

II-3

II-4

II-5

II-6

II-7

II-8

III-1

III-2

III-3

III-4

III-5

III-6

III-7

III-8

III-9

III-10

IV-3

IV-4

IV-5

IV-6

IV-7

IV-8

IV-9

IV-10

IV-11

IV-12

IV-13

(a) A pedigree for human pattern baldness

Bb

Bb

Sperm
B

Figure 4.16

BB
Bald male
Bald female

Bb
Bald male
Nonbald female

bb
Bb
Nonbald male
Bald male
Nonbald female Nonbald female

(b) Example of an inheritance pattern involving baldness

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IV-14

Sex-limited Traits
Traits that occur in only one of the two sexes
For example in humans
Breast development is normally limited to females
Beard growth is normally limited to males

In birds
males have more ornate plumage

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Another example of a sex-limited trait


Feather plumage in chickens (Figure 4.17)
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robert Maier/Animals, Animals

(a) Hen

robert Maier/Animals, Animals

(b) Rooster

Figure 4.17
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Another example: Feather plumage in chicken


Caused by an autosomal gene
Hen-feathering is controlled by a dominant allele
expressed in both sexes
Cock-feathering is controlled by a recessive allele only
expressed in males

Genotype

Phenotype
in Females

Phenotype
in Males

hh

hen-feathered

cock-feathered

Hh

hen-feathered

hen-feathered

HH

hen-feathered

hen-feathered

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Sex-limited Traits

The pattern of hen-feathering depends on the


production of sex hormones

If the single ovary is surgically removed from a


newly hatched hh female

She will develop cock-feathering and look


indistinguishable from a male

Sex-limited traits are responsible for sexual


dimorphism
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Mendel

Extension OR Violation

One allele is completely


dominant over the other
in all instances

EXTENSION: Alleles may be Incompletely


Dominant or Codominant; alleles can be
dominant in one sex and recessive in the other
(Sex Influenced); some alleles are expressed in
only one sex (Sex Limited)

All offspring from a cross


are equally viable

EXTENSION: Some genotypes survive better than


others; some genotypes may actually be fatal;
Overdominance, lethal alleles, semi-lethal alleles

Genotype does not always


determine phenotype

EXTENSION: AA does not always exhibit the


dominant phenotype, etc. Incomplete
penetrance, variable expressivity

Adults are diploid for all


genes and gametes are
haploid for all genes

VIOLATION: Males are haploid for X-linked genes;


gametes are nulliploid; Females are nulliploid for
Y (Sex linkage); Some adults have more than two
sets of genes (polyploidy); Some "adults" are
halpoid (haploidy - e.g. yeast); Some organisms
are both (Alternation of generations - e.g. moss)

More than one gene


controls a trait

VIOLATION: Often (in fact most of the time) traits


are controlled by more than one gene (Gene
interactions)

Overdominance
Overdominance is the phenomenon in which a
heterozygote is more vigorous than both of the
corresponding homozygotes
It is also called heterozygote advantage

Usually due to one of three reasons:


Protection from microorganisms
Homodimer formation
Expansion of range of enzyme function

Figure 4.8a

A microorganism will infect a cell if


certain cellular proteins function
optimally

Heterozygotes have one altered


copy of the gene

Therefore, they have slightly reduced


protein function
This reduced function is not enough to
cause serious side effects
But it is enough to prevent infections

Examples include

Sickle-cell anemia and malaria


Tay-Sachs disease
Heterozygotes are resistant to
tuberculosis

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Pathogen can
successfully
propagate.

A1A1

Normal homozygote
(sensitive to infection)
Pathogen
cannot
successfully
propagate.

A1A2

Heterozygote
(resistant to infection)
(a) Disease resistance

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Figure 4.8b

Some proteins function as


homodimers

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Composed of two different subunits


Encoded by two alleles of the same gene

A1

A1

Make only A1A1 homodimers

A2A2 homozygotes

Make only A2A2 homodimers

A1A2 heterozygotes

A2

(b) Homodimer formation

A1A1 homozygotes

A2

Make A1A1 and A2A2 homodimers


AND A1A2 homodimers
For some proteins, the A1A2 homodimer
may have better functional activity
Giving the heterozygote superior
characteristics
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A1

A2

Figure 4.8c

A gene, E, encodes a metabolic


enzyme
Allele E1 encodes an enzyme that
functions better at lower
temperatures

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E1

E2

2732C
(optimum
temperature
range)

3037C
(optimum
temperature
range)

(c) Variation in functional activity

Allele E2 encodes an enzyme that


functions better at higher
temperatures

E1E2 heterozygotes produce both


enzymes

Therefore they have an advantage in


that they function over a wider
temperature range than either E1E1 or
E2E2 homozygotes
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Lethal and Semilethal Alleles


Essential genes are those that are absolutely
required for survival
The absence of their protein product leads to a lethal
phenotype
It is estimated that about 1/3 of all genes are essential for
survival

Nonessential genes are those not absolutely


required for survival
A lethal allele is one that has the potential to
cause the death of an organism
These alleles are typically the result of mutations in
essential genes
They are usually inherited in a recessive manner

Many lethal alleles prevent cell division


These will kill an organism at an early age

A lethal allele will produce ratios that deviate from


Mendelian ratios
If recessive, the mutant phenotype will never be observed!
Though may lead to more miscarriages in the mother

If dominant and the homozygous dominant offspring do not


survive (the usual case), the ratio will be 2 mutant: 1 normal

An example is the Manx cat


Carries a dominant mutation that affects the spine
This mutation shortens the tail
This allele is lethal as a homozygote for the dominant allele
Refer to Figure 4.18b

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Mm
(Manx)

Mm
(Manx)
Sperm

MM
(early
embryonic
death)

Mm
(Manx)

Mm
(Manx)

mm
(non-Manx)

2 Manx for every one normal kitten

Egg

(b) Example of a Manx


inheritance pattern

Figure 4.18b

Example of Manx Inheritance patterns


Mendel's ratio has now changed to 2:1

Semilethal alleles
Kill some individuals in a population, not all of them
If the allele is recessive, Mendel's ratio will be >3:1
Many (but not all) in the "cc" category will die
"CC" and "Cc" categories are enriched relative to "cc"
E.g. 4:1, 15:1, 100:1, etc. depending on what fraction of "cc"
offspring die

If the allele is dominant and the homozygous dominant


offspring do not survive very well, the ratio will be
somewhere between 2:1 (entirely lethal) and 3:1
(Mendelian - no lethality)
What would happen to Mendel's ratio if the allele is
semi-lethal in both CC and Cc?
C

CC

Cc

Cc

cc

Mendel

Extension OR Violation

One allele is completely


dominant over the other
in all instances

EXTENSION: Alleles may be Incompletely


Dominant or Codominant; alleles can be
dominant in one sex and recessive in the other
(Sex Influenced); some alleles are expressed in
only one sex (Sex Limited)

All offspring from a cross


are equally viable

EXTENSION: Some genotypes survive better than


others; some genotypes may actually be fatal;
Overdominance, lethal alleles, semi-lethal alleles

Genotype does not always


determine phenotype

EXTENSION: AA does not always exhibit the


dominant phenotype, etc. Incomplete
penetrance, variable expressivity

Adults are diploid for all


genes and gametes are
haploid for all genes

VIOLATION: Males are haploid for X-linked genes;


gametes are nulliploid; Females are nulliploid for
Y (Sex linkage); Some adults have more than two
sets of genes (polyploidy); Some "adults" are
halpoid (haploidy - e.g. yeast); Some organisms
are both (Alternation of generations - e.g. moss)

More than one gene


controls a trait

VIOLATION: Often (in fact most of the time) traits


are controlled by more than one gene (Gene
interactions)

Incomplete Penetrance
In some instances, a dominant allele does
not influence the outcome of a trait in a
heterozygote individual
Example = Polydactyly
Autosomal dominant trait
Affected individuals have additional fingers
and/or toes
Refer to Figure 4.5

A single copy of the polydactyly allele is usually


sufficient to cause this condition
In some cases, however, individuals carry the
dominant allele but do not exhibit the trait

Figure 4.5
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I-1

II-1

I-2

II-2

III-1

IV-1

IV-2

II-3

III-2

IV-3

II-4

III-3

II-5

III-4

III-5

Inherited the polydactyly allele from


his mother and passed it on to a
daughter and son

Does not exhibit the trait himself


even though he is a heterozygote

Incomplete Penetrance
The term indicates that a dominant allele does not
always penetrate into the phenotype of the
individual
The measure of penetrance is described at the
population level
If 60% of heterozygotes carrying a dominant allele
exhibit the trait allele, the trait is 60% penetrant

Note:
In any particular individual, the trait is either penetrant or
not

Example: most inherited cancers


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Expressivity
Expressivity is the degree to which a trait is
expressed
In the case of polydactyly, the number of digits can
vary
A person with several extra digits has high expressivity
of this trait
A person with a single extra digit has low expressivity

The molecular explanation of expressivity and


incomplete penetrance may not always be
understood
In most cases, the range of phenotypes is thought
to be due to influences of the
Environment and/or other genes

Please note: A mutant phenotype can be:


BOTH incompletely penetrant and variably expressed
ONLY incompletely penetrant (everybody who exhibits
the phenotype does so to the same degree
ONLY variably expressed (everyone expresses the
phenotype associated with the genotype but to different
degrees

Mendel

Extension OR Violation

One allele is completely


dominant over the other
in all instances

EXTENSION: Alleles may be Incompletely


Dominant or Codominant; alleles can be
dominant in one sex and recessive in the other
(Sex Influenced); some alleles are expressed in
only one sex (Sex Limited)

All offspring from a cross


are equally viable

EXTENSION: Some genotypes survive better than


others; some genotypes may actually be fatal;
Overdominance, lethal alleles, semi-lethal alleles

Genotype does not always


determine phenotype

EXTENSION: AA does not always exhibit the


dominant phenotype, etc. Incomplete
penetrance, variable expressivity

Adults are diploid for all


genes and gametes are
haploid for all genes

VIOLATION: Males are haploid for X-linked genes;


gametes are nulliploid; Females are nulliploid for
Y (Sex linkage); Some adults have more than two
sets of genes (polyploidy); Some "adults" are
halpoid (haploidy - e.g. yeast); Some organisms
are both (Alternation of generations - e.g. moss)

More than one gene


controls a trait

VIOLATION: Often (in fact most of the time) traits


are controlled by more than one gene (Gene
interactions)

X-linked Genes
Many species have males and females that
differ in their sex chromosome composition
Certain traits are governed by genes on the sex
chromosomes
A pedigree for an X-linked disease shows that it
is mostly males that are affected with their
mothers as carriers
We have already studied this in lab
Refer to Figure 4.12

Figure 4.13b

Sex Chromosomes and Traits


Sex-linked genes are those found on one of the
two types of sex chromosomes, but not both
X-linked
Hemizygous in males
Only one copy
Males are more likely to be affected

Y-linked
Relatively few genes in humans
Referred to as holandric genes
Transmitted from father to son

Sex Chromosomes and Traits


Pseudoautosomal inheritance refers to the very
few genes found on both X and Y chromosomes
Found in homologous regions needed for chromosome
pairing during prophase of MI
Mic2
gene
X

Y
Figure 4.14

Mic2
gene

Mendel

Extension OR Violation

One allele is completely


dominant over the other
in all instances

EXTENSION: Alleles may be Incompletely


Dominant or Codominant; alleles can be
dominant in one sex and recessive in the other
(Sex Influenced); some alleles are expressed in
only one sex (Sex Limited)

All offspring from a cross


are equally viable

EXTENSION: Some genotypes survive better than


others; some genotypes may actually be fatal;
Overdominance, lethal alleles, semi-lethal alleles

Genotype does not always


determine phenotype

EXTENSION: AA does not always exhibit the


dominant phenotype, etc. Incomplete
penetrance, variable expressivity

Adults are diploid for all


genes and gametes are
haploid for all genes

VIOLATION: Males are haploid for X-linked genes;


gametes are nulliploid; Females are nulliploid for
Y (Sex linkage); Some adults have more than two
sets of genes (polyploidy); Some "adults" are
halpoid (haploidy - e.g. yeast); Some organisms
are both (Alternation of generations - e.g. moss)

More than one gene


controls a trait

VIOLATION: Often (in fact most of the time) traits


are controlled by more than one gene (Gene
interactions)

GENE INTERACTIONS
Gene interactions occur when two or more
different genes influence the outcome of a
single trait
Indeed, morphological traits such as height
weight and pigmentation are affected by many
different genes in combination with
environmental factors

We will focus on only


this "simple" situation
in lecture

Mendelian Inheritance Patterns Involving Two genes

We will look at different cases, all involving two


genes that exist in two alleles
NOTICE THAT TWO GENES ARE CONTOLLING A
SINGLE TRAIT

Mendel would have predicted a 3:1 ratio


But when two genes control the same trait, you
are really doing a dihybrid cross, not a
monohybrid one! You just don't know it -- until
you look at the cross data.
We will look at three different cases.
(There are even more ... Yikes!)

A Cross Involving a Two-Gene Interaction Can


Produce two distinct phenotypes

Inheritance of flower color in the sweet pea


Lathyrus odoratus normally has purple flowers
Bateson and Punnett obtained several true-breeding
varieties with white flowers
They carried out the following cross
P: True-breeding purple X true-breeding white
F1: Purple flowered plants
F2: Purple- and white-flowered in a 3:1 ratio
These results were not surprising

CCPP (purple)

ccpp (white)

F1 generation

Why would Mendel


have expected to see
a 3:1 ratio?

All purple
(CcPp)
Self-fertilization
F2 generation
CP

F2 generation

Cp

cP

cp

CP

CCPP
Purple

CCPp
Purple

CcPP
Purple

CcPp
Purple

Cp

CCPp
Purple

CCpp
White

CcPp
Purple

Ccpp
White

cP

CcPP
Purple

CcPp
Purple

ccPP
White

ccPp
White

cp

CcPp
Purple

Ccpp
White

ccPp
White

ccpp
White

Epistasis: Homozygosity
for the recessive allele
of either gene results in
a white phenotype, thereby
masking the purple
(wild-type) phenotype.
Both gene products
encoded by the wild-type
alleles (C and P) are
needed for a purple
phenotype.

A Cross Involving a Two-Gene Interaction Can


Produce three distinct phenotypes

Inheritance of coat color in laborador


retrievers
A true-breeding black lab is crossed to a purebreeding yellow lab
F1 labs are all black

If two F1 animals are crossed, they produce


offspring in the following ratios
9 black
3 chocolate
4 albino

9 B_C_ = black: 3 B_cc = chocolate: 4 bb__ = yellow

BC

Bc

bC

bc

BC

BBCC
black

BBCc
black

BbCC
black

BbCc
black

Bc

BBCc
black

BBcc
chocolate

BbCc
black

Bbcc
chocolate

bC

BbCC
black

BbCc
black

bbCC
yellow

bbCc
yellow

bc

BbCc
black

Bbcc
chocolate

bbCc
yellow

bbcc
yellow

Gene Redundancy

Geneticists have developed techniques to


directly generate loss-of-function alleles

This is called a gene knockout


Allows scientists to understand the affects of the
gene on structure or function of the organism

Interestingly, many knockouts have no


obvious phenotype

Gene Redundancy

This may be due to gene redundancy where


one gene can compensate for the loss of
function of another

May be due to gene duplication


Duplicate genes are called paralogs

They are not identical because of accumulated


mutations during evolution

Gene Redundancy

George Shull conducted the first studies on


gene redundancy

Studied a weed known as shepherds purse


Trait followed was the shape of the seed capsule which
is usually triangular
Strains producing small ovate capsules are due to lossof-function alleles in two genes (ttvv)
True breeding strains were crossed
Triangular x Ovate
F1 progeny were crossed to one another
Refer to Figure 4.24 for results of the cross

Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

x
TTVV
Triangular

ttvv
Ovate

F1 generation
TtVv
All triangular
F1 (TtVv) x F1 (TtVv)

F2 generation
TV

Tv

tV

tv

TTVV

TTVv

TtVV

TtVv

TTVv

TTvv

TtVv

Ttvv

TtVV

TtVv

ttVV

ttVv

TtVv

Ttvv

ttVv

ttvv

TV

Tv

tV

tv

Figure 4.24 A 15:1 ratio results from gene redundancy. Either dominant
allele, T or V, is sufficient to give a triangular seed
Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display

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