Chapter 5 I.

Multiple Alleles
Extensions and Modifications The ABO blood group has
of Basic Principles • multiple alleles
• codominance
• and complete dominance.

In codominance, both alleles are expressed

simultaneously.

In the ABO blood system, there are 3 alleles:

IA IB i

IA is dominant over i
IB is dominant over i
IA and IB are co-dominant

Universal donor (type O)

and universal recipient (type AB)

Summary points
1. Dominance is a function of interaction
between alleles.
What pattern of inheritance is
2. Epistatsis is a function of interaction
between genes. demonstrated in the following cross?

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II. Sex limited and sex influenced inheritance

What pattern of inheritance is demonstrated in the

following cross?

What pattern of inheritance is

demonstrated in the cross above?

What pattern of inheritance is

demonstrated in the following cross?

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 What pattern of inheritance is
demonstrated in the cross above?

III. Dominance / Incomplete dominance IV. Gene interaction

A. New genotypes can show up in the F1 and F2
generation.
Eg. Comb type in chickens

Walnut Rose Pea Single

R-P R-pp rrP- rrpp

What are the phenotypes of these parents,

and what F1 and F2 offspring would you What are the phenotypes of these parents,
expect from the following crosses? and what F1 and F2 offspring would you
expect from the following crosses?

RRPP x rrpp
RRpp x rrPP
walnut x single rose x pea
F1: all walnut F1: all walnut
Note that your first hypothesis here would Note that a novel phenotype appears in this
probably be a single gene where walnut is generation.
dominant.
F2: __ walnut: __ rose: __ pea: __ single F2: __ walnut: __ rose: __ pea: __ single

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 9 3 3 1
A-B- A-bb aaB- aabb

9:3:3:1
B. Epistasis occurs when one gene masks
12:3:1
the effect of a second gene.
10:3:3
9:6:1
Gene interaction and/or epistasis may 9:3:4
produce offspring ratios that are variations
15:1
of a 9:3:3:1.
13:3
12:4
10:6
9:7

Dominant epistasis Duplicate recessive epistasis

__ white: __ yellow: __ green __ pigmented: __ white

W--- white: wwY- yellow: wwyy green A-B- pigmented: A-bb or aaB- or aabb white

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 … with two pathways you can also
Two pathways that would yield a 9:7 (color : white) ratio.
get a 9:3:3:1 ratio, but…
A-
gene A gene B Colorless ŽŽŽf RED
Colorless ŽŽŽf Colorless ŽŽŽf Color B- ŽŽf PURPLE
Colorless ŽŽŽf BLUE
gene A (C?)
A-B- A- bb aaB- aabb
Colorless ŽŽŽf Colorless 9 3 3 1
gene B ŽŽf Color
purple red blue white
Colorless ŽŽŽf Colorless

aa aa
Colorless ŽŽŽf RED Colorless ŽŽŽf RED
B- ŽŽf PURPLE bb ŽŽf PURPLE
Colorless ŽŽŽf BLUE Colorless ŽŽŽf BLUE

If the functional a gene is recessive? If both functional genes are recessive?

A-B- A- bb aaB- aabb A-B- A- bb aaB- aabb
9 3 3 1 9 3 3 1
blue white purple red white blue red purple

How do we get so many different ratios?

A- B-
Colorless ŽŽŽf PINK ŽŽŽf RED

Recessive epistasis
A-B- A- bb aaB- aabb
9 3 3 1
red pink white white
9 3 4
We have already seen that if the
intermediate product is white (colorless) you
get a ___:___ ratio.

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 … but if these are duplicate
… and with a slight variation?
pathways…
aa B-
A-
Colorless ŽŽŽf PINK ŽŽŽf RED
Colorless ŽŽŽf RED
A-B- A- bb aaB- aabb B- ŽŽf
9 3 3 1 Colorless ŽŽŽf RED
white white red pink
12 3 1 A-B- A- bb aaB- aabb
9 3 3 1
red red red white
What ratio do you get if the intermediate
product is white? ____red :____ white

Examples of Epistatic Ratios Summary points

Sheperd’s purse
1. Genes are discrete units that control the
•15 triangular : 1 oval phenotype of organisms.
2. Inheritance follows the rules of segregation
Summer squash and independent assortment
•9 disk: 6 sphere: 1 elongate 3. Dominance is a function of interaction between
alleles.
Fowl color 4. Genes control the production of enzymes and
•13 white: 3 colored thus the function of biochemical pathways.
5. Epistatsis is a function of interaction between
genes.
Corn kernel color
•9 purple: 7 white

Complementation test
Determines whether two independently
isolated mutations are at the same loci or
different loci.
Flower color
Wile type is red, mutant is white.
Consider two independently isolated white
mutants, where wild type is dominant:
w c

w c

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 Cross them.
Two possible outcomes
Two possible outcomes
Allelic: Allelic: Different genes:
no complementation no complementation complementation
w w c W

c c Cw

Summary points V. Lethal alleles

In a cross between two mutant lines
(with the same phenotype) ,
complementation results in a wild type
phenotype and indicates that two
mutations are in different genes. This
is called a complementation test.
Lethal alleles result in missing classes in a
genetic cross
Eg. 2:1 phenotypic ratio in a monohybrid
cross

VI. Non-Mendelian inheritance

A. Maternal effects: influence of mother's

genotype on phenotype of offspring

B. Cytoplasmic inheritance: extra-nuclear

genes that are found in chloroplasts and
mitochondria

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 Snail shell coiling
dextral (right hand)
sinistral (left hand)
Start with two true-breeding lines
Dextral female x sinistral male: all dextral
F1
Sinstral female x dextral male: all sinistral
F1
Give a hypothesis about how this trait is
controlled.

A. Maternal effects
Dextral female X sinistral male: all
dextral F1
selfing produces all dextral

Sinstral female X dextral male: all

sinistral F1
selfing produces all dextral
Genotype of mother determines cleavage
pattern in egg, and that determines direction
of coiling

She is sinistral Summary points

because her
mother was ss.
For traits determined by genetic
They are dextral maternal effects, the genotype of the
because their mother (rather than of the gamete she
mother was s+s. contributes) determines the phenotype
of the offspring through mRNA in the
What will their egg.
offspring be?

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 Rules of extranuclear
B. Cytoplasmic inheritance organelles or inheritance
particles
1. Uniparental inheritance leads to
differences between reciprocal crosses.
Mitochondria and chloroplasts have own
2. Genes cannot be mapped to nuclear
genome
chromosomes.
3. Ratios associated with Mendelian traits
1. Mitochondrial genome cannot be found.
4. Extranuclear inheritance is persists
despite nuclear substitution.

Homoplasmic: all mitochondria identical

or
heteroplasmic: mitochondrial DNAs
have more than one sequence

Inheritance is uniparental; usually

maternal.

Summary points V. Imprinting:

Phenotype of offspring depends upon

For traits determined by cytoplasmic
inheritance, genes are encoded in the
cytoplasm (usually in the mitochondria
and chloroplast). These organelles
usually show uniparental inheritance.
maternal or paternal source of altered
allele
i.e. which parent contributed the allele
Mutants act like a dominant, but only
through one parent.

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Prader-Willi/Angelman syndrome Angelman syndrome: jerky, repetitive,
lurching body movements; seizures;
Results from deletion of 15q11-15q13. incoherent speech; loud bursts of
laughter; large mouths; red cheeks

But sometimes you got one phenotype

and sometimes another…. Prader-Willi syndrome: mild to moderate
mental retardation; lack muscle tone;
insatiably hungry so become obese; tiny
hands and gonads.

AS PWS Prader-Willi/Angelman syndrome

Results from deletion of 15q11-15q13.

Two different imprinted genes in the same

region.

Maternally inheritted deletion causes

Angelman’s
Paternal deletion causes Prader-Willi

Summary points VI. Anticipation: The severity increases or

the age of onset gets early when you look
across generations.
For traits determined by genomic
imprinting, only the allele inherited from Eg: Grandfather age of onset: 50
the parent of one sex is expressed. Mother age of onset: 35
Child age of onset: 5
Ascertainment bias?
NO

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 Summary points Mutations due to trinucleotide repeat
expansion: (CAG)n
Huntington’s
For traits that show anticipation, mutant Several types of ataxia
alleles are unstable and may change Fragile X (non-coding)
over even one generation. They are
caused by trinucleotide repeats; more Grandfather age of onset: 50 (CAG)25
repeats results in earlier and/or more Mother age of onset: 35 (CAG)50
severe expression of the mutant
phenotype. Child age of onset: 5 (CAG)120

VII. Environmental effects on gene Summary points

expression

Expression of many genes is modified

by the environment. This is known as a
gene x environment interaction.

This is so common as to be virtually

universal.

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