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Extensions of
Mendel's First Law
(Chapter 4)
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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
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
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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Genotype
PP
Pp
pp
Amount of
functional
protein P
100%
50%
0%
Phenotype
Purple
Purple
White
Simple dominant/
recessive
relationship
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
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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RR
Rr
rr
Amount of functional
(starch-producing)
protein
100%
50%
0%
Phenotype
Round
Round
Wrinkled
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
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
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
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
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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
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
Bettmann/Corbis
Figure 4.15
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Sex-influenced Traits
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
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
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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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(a) Hen
(b) Rooster
Figure 4.17
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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
Mendel
Extension OR Violation
Overdominance
Overdominance is the phenomenon in which a
heterozygote is more vigorous than both of the
corresponding homozygotes
It is also called heterozygote advantage
Figure 4.8a
Examples include
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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
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A1
A1
A2A2 homozygotes
A1A2 heterozygotes
A2
A1A1 homozygotes
A2
A1
A2
Figure 4.8c
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E1
E2
2732C
(optimum
temperature
range)
3037C
(optimum
temperature
range)
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Mm
(Manx)
Mm
(Manx)
Sperm
MM
(early
embryonic
death)
Mm
(Manx)
Mm
(Manx)
mm
(non-Manx)
Egg
Figure 4.18b
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
CC
Cc
Cc
cc
Mendel
Extension OR Violation
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
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
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
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
Mendel
Extension OR Violation
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
Y-linked
Relatively few genes in humans
Referred to as holandric genes
Transmitted from father to son
Y
Figure 4.14
Mic2
gene
Mendel
Extension OR Violation
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
CCPP (purple)
ccpp (white)
F1 generation
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.
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
Gene Redundancy
Gene Redundancy
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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
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