Extensions of Mendelian

Inheritance
 Inheritance Pattern of Single
Genes
l Alleles and Encoded Proteins
l Prevalent allele in a population – wild
type allele which typically encodes for a
normally expressed & functioning
protein.
l Mutant alleles are those that have been
changed by a mutation. Normally have
altered expression (typically
decreased/abnormal protein function).
Continued…..

lFor autosomal trait with a

simple dominant/recessive
relationship, presence of a
single recessive allele does not
effect the phenotype of the
heterozygote
 Mutations in Essential Genes
lEssential genes are those that if lost to the
individual produce a lethal phenotype.
– Lethal alleles are those that have potential to
cause death to the organism.
lLethal alleles may kill at a very early age
(during development) or later in life.
Continue..

Lethal alleles that only effect an organism

under certain environmental conditions
are called conditional lethal alleles.
If the environmental condition is
temperature, these are called
temperature-sensitive (ts) lethals.

A ts lethal frequently encodes a protein

that does not function correctly at a
given temperature.
 a) A Himalayan rabbit. (b) A Siamese cat. Both show dark fur
color on the muzzle, ears, and paws due temperature-sensitive
allele responsible for pigment production at the lower
temperatures of the extremities, which is inactive at slightly
higher temperatures.

Non-
lethal
ts genes
Continued…

Lethal alleles that do not affect all

members of the population equally are
called semilethal alleles.

Analysis of lethal alleles may appear

to deviate from Mendelian patterns
because the homozygous individual is
not apparent in the population
 Incomplete Dominance

l Incompletedominance is characterized
by heterozygous individuals that possess
a phenotype intermediate between
dominant and recessive phenotypes.
Continue…

lCarl Correns - four o’clock plant, Mirabilis

jalapa
–Homozygous red flower plants crossed
with homozygous white flowered plants
yield pink flowers.
–When pink-flowered heterozygous plants
are crossed, their offspring yield ¼ white-
flowered offspring, ½ pink-flowered
offspring, ¼ red-flowered offspring.
–This is a 1:2:1 phenotypic ratio, versus the
predicted 3:1 ratio
Genetic basis of flower color in snapdragons.
 Codominance
l InCodominance, the Influence of Both
Alleles in a Heterozygote Is Clearly Evident

l Codominance occurs when joint expression of

two alleles of a gene in a heterozygote results
in phenotypic detection of both gene products.
One example is the MN blood group.
Detection of the M and N antigens on blood cells
by agglutination with specific anti-sera.
Multiple Allele System
ABO Blood Groups in Humans
Human blood groups consist of three alleles:
IA, IB and i

Since both IA and IB are dominant,

human blood groups are also an
example of codominance.
Each individual is A, B, AB, or O
phenotype as a result of dominance of
the IA and IB alleles to the IO allele and
codominance of the IA and IB alleles to
each other
Sex Influenced & sex limited genes
l Sex-influenced inheritance indicates that an
allele is dominant in one sex, but recessive
in the other.
– An example in humans is male-pattern
baldness. The trait is dominant in males
but recessive in females.
– Sex-influenced traits may not be on the
sex chromosomes.
Continued…

l A sex-limited trait is expressed in only

one of the sexes.
–Breast development in human
females, beard growth in human males,
and hen-feathering in chickens.
–In sex-limited and sex-influenced
inheritance, expression of autosomal
genes depends on the sex hormone
constitution of the individual. Thus, one
phenotype may be expressed in males
and another in females
 X-Linkage Describes Genes on the X
Chromosome

• Genes present on the X chromosome

exhibit unique patterns of inheritance
due to the presence of only one X
chromosome in males.

• Drosophila eye color was one of the

first examples of X-linkage
 Gene Interactions
lA gene interaction indicates that the
phenotype is determined by the
contribution of two or more genes.
lAccording to Mendelian inheritance, a
cross involving two heterozygous
individuals for two genes should produce a
9:3:3:1 ratio of phenotypes.
– Deviations from this ratio are a good indication
of gene interactions.
Gene Interactions Producing a
9:3:3:1 ratio
l The first indication of gene
interactions was provided in 1906 by
Bateson and Punnett, who were
studying comb morphology in
chickens
– Their results produced four distinct
phenotypes in a 9:3:3:1 ratio,
rather than the four combinations
of two phenotypes in a 9:3:3:1
ratio
Comb shapes in chickens of different breeds
Bateson
and
Punnett’s
experiment
on comb
shape in
chickens.
 Epistasis
Epistasis occurs when one gene
masks the effect of another gene or
when two gene pairs complement
each other such that one dominant
allele is required at each locus to
express a certain phenotype.
The Bombay phenotype for ABO
blood groups is an example of
epistasis in which the homozygous
recessive gene (FUT1) masks the
expression of a second locus
A partial pedigree of a woman displaying the Bombay
phenotype.
Continued…

A single characteristic expressed in

a ratio of 16 parts (e.g., 3:6:3:4)
suggests that epistasis is occurring.
Several cases of epistasis and
gene interactions are described in
the next few slides. These include
recessive epistasis, dominant
epistasis, and complementary gene
interaction.
 9:7 Phenotypic Ratios –
recessive epistasis
lFirst described by Bateson and
Punnett - flower colors in the sweet
pea Lathyrus odoratus
– The results of their crosses
indicated that two genes were
involved, and a plant that was
homozygous for either white allele
would develop a white-flowered
plant regardless of the genotype of
the other gene.
White and purple flowers of the sweet pea
 9:3:4 ratio –
mouse coat colour
B = agouti, bb = black.
homozygous recessive aa is epistasis
to B & b
9 A_ B_ is grey 3 A_ bb is black
3 aaB_ is albino 1 aabb_ is albino
12:3:1 ratio – colour of
squash fruit
B = yellow, bb = green
A is epistasis dominant to B and b
9 A_B_ is white 3 A_ bb is white
3 aaB_ is yellow 1 aabb is green
More examples….