Extensions of Mendelian Analysis

• variations on dominance
• multiple alleles
• lethal alleles
• several genes affecting the same character
• penetrance and expressivity

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 Introduction
• We have seen that Mendel's laws of equal segregatation
and independent assortment seem to hold across the
entire spectrum of eukaryotic organisms.
• These laws form a base for predicting the outcome of
simple crosses.
• However, the real world of genes and chromosomes is
more complex than Mendel's laws.
• There are many exceptions and extensions of these two
laws.
• These situation, however, do -t invalidate Mendel's laws.
Rather, they show that more explanatory elements must
be added to the base of the two laws to fit these
situations into the fabric of genetic analysis.
• This is the challenge we -w must meet.
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 Variations on Dominance
• Mendel reported full dominance (and recessiveness) for all
seven genes he studied.
• Some examples will illustrate variations on the theme of
dominance.
• In Four-o-clocks, when a pure line with red petals is crossed
with a pure line with white petals, the F1 has pink petals.
• If an F2 is produced by inter-crossing the F1, the result is:

¼ of the plants have red petals

½ of the plants have pink petals

¼ of the plants have white petals

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• Because of the 1:2:1 ratio in the F2, we can deduce an
inheritance pattern based on two alleles ot a single
gene.
• However, the heterozygotes (the F1 and one-half of
the F2) are intermediate in phe-type, suggesting
incomplete dominance. Inventing allele symbols that
have - dominance con-tation.
• we can list the ge-types of the four-o'clocks in this
experiment as under:

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• Incomplete dominance describes the general situation
in which the phe-type of a heterozygote is
intermediate between the two homozygotes on a phe-
typic scale of measurement. The figure below gives
terms for all the theoretical positions on the scale, but
in practice it is diffhcult to determine exactly where on
such a scale the heterozygote is located.

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• Codominance: It is the phenomenon in which the
heterozygote shows the phenotypes of both the
homozygotes.
• Example is the three MN blood groups found in
humans.
Genotype Reaction with: Phenotype/Blood
Anti-M Anti-N Group
LMLM + - M

LMLN + + MN

LNLN - + N

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• The human disease
sickle-cell anaemia gives
interesting insight into
dominance. The gene
concerned affects the
molecule haemoglobin,
which transports oxygen
and is the major
constituent of red blood
cells. The three
genotypes have different
phenotypes, as follows:

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 Sickle Cell Anaemia
Genotype Phenotype
HbA HbA Normal Red blood cells never sickle

Severe, often fatal anaemia. Ab-rmal

HbS HbS haemoglobin causes red blood cells to
have sickle shape.

No anaemia. Red blood cells sickle only

HbA HbS
under low oxygen concentrations

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Electrophoresis of normal and mutant hemoglobins. Shown are hemoglobin
from a heterozygote (with "sickle-cell trait"), a person with sickle-cell
anemia, and a normal person. The smudges show the positions to which the
hemoglobins migrate on the Muhammad
starch Abdul
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 Multiple Alleles
• Early in the history of genetics, it became clear that
it is possible to have more than two forms of a
gene.
• Although a diploid organism can have only two
alleles of a gene (and a haploid organism can have
only one), in a population the total number of
different alleles for a single gene is often quite
large.
• This situation is called multiple allelism, and the
set of alleles itself is called an allelic series.
• The concept of allelism is a crucial one in genetics,
so we consider several examples.
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 Example: ABO Blood grouping
Antigen on RBC Antibodies in serum
Ge-type Blood Group
A B A B

IA IA or IA i + - - + A

IB IB or IB i - + + - B

IA IB + + - - AB

ii - - + + O

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A slightly different kind of multiple allelic system is
encountered in the coat colors of rabbits: С allows full color
to be produced (typical gray rabbit); cch when
homozygous,removes yellow pigment from the fur, making a
silver-gray color called chinchilla; cch when heterozygous
with alleles lower in the dominance hierarchy, produces
light gray fur; ch produces a white rabbit with black
extremities called "Himalayan"; с fails to produce pigment,
resulting in albino. The dominance hierarchy may be
symbolized as follows: С > cch > ch > с

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 Coat colour in rabbits
• A slightly different kind of multiple allelic system
is encountered in the coat colors of rabbits: С
allows full color to be produced (typical gray
rabbit); cch when homozygous, removes yellow
pigment from the fur, making a silver-gray color
called chinchilla; cch when heterozygous with
alleles lower in the dominance hierarchy,
produces light gray fur; ch produces a white
rabbit with black extremities called "Himalayan";
с fails to produce pigment, resulting in albino.
The dominance hierarchy may be symbolized as
follows: С > cch > ch > с
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 Lethal alleles
• Many mutant alleles are capable of causing the
death of an organism; such alleles are called
lethal alleles.
• Many human disease alleles provide examples
such as Duchenne muscular dystrophy, PKU, and
cystic fibrosis.
• A gene whose mutations may be lethal is clearly
an essential gene.

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• A good example of a recessive lethal allele is an allele
of a coat color gene in mice (Fig.).
• Normal wild-type mice have coats with a rather dark
overall pigmentation.
• A mutation called yellow (a lighter coat color) shows a
curious inheritance pattern.
• If any yellow mouse is mated to a homozygous wild-
type mouse, a 1:1 ratio of yellow to wild-type mice is
always observed in the progeny. This result suggests
that a yellow mouse is always heterozygous for the
yellow allele and that the yellow allele is dominant to
wild type.
• However, if any two yellow mice are crossed with each
other, the result is always as follows

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Example from Plants
• The amount of chlorophyll in snapdragons (Antirrhinum)
is controlled by a pair of codominant alleles, one of
which exhibits a lethal effect when homozygous, and a
distinctive color phenotype when heterozygous.

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 Several genes affecting the same
character
• We saw earlier that the identfication of a major gene
affecting a character does not mean that this is the only gene
affecting that character.
• An organism is a highly complex machine in which all
functions interact to a greater or lesser degree.
• At the level of genetic determination, the genes likewise can
be regarded as cooperating.
• Therefore, a gene does not act in isolation; its effects depend
not only on its own functions but also on the functions oft
other genes as well as on the environment.
• Typically, the key to an interaction is a modified Mendelian
ratio.
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 Genetic interaction and epistasis
• Epistasis is one form of genetic interaction.
• Originally a gene or locus that suppressed or masked the action of
a gene at another locus was termed epistatic. The gene or locus
suppressed was hypostatic.
• Later it was found that both loci could be mutually epistatic to
one another. Now the term "epistasis" has come to be
synonymous with almost any type of gene interaction.
• Dominance involves intraallelic gene suppression, or the masking
effect that one allele has upon the expression of another allele at
the same locus.
• Epistasis involves interallelic gene suppression, or the masking
effect that one gene locus has upon the expression of another.
• The classical phenotypic ratio of 9 : 3 : 3 : 1 observed in the
progeny of dihybrid parents becomes modified by epistasis into
ratios that are various combinations of the 9:3: 3 : 1 groupings.

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 Dominant Epistasis (12: 3 :1)
• When the dominant allele at one locus, for example, the A allele,
produces a certain phenotype regardless of the allelic condition of
the other locus, then the A locus is said to be epistatic to the В
locus.
• Furthermore, since the dominant allele A is able to express itself in
the presence of either В or b, this is a case of dominant epistasis.
• Only when the genotype of the individual is homozygous recessive
at the epistatic locus (aa) can the alleles of the hypostatic locus (B
or b) be expressed. Thus the genotypes
• A-B- and A-bb produce the same phenotype, where as aaB- and
aabb produce 2 additional phenotypes.
• The classical 9:3:3:1 ratio becomes modified into a 12:3: I ratio.

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 Example of dominant epistasis
(Fruit colour in summer squash)
• There are three types of fruit colours in this cucumber,
viz., white, yellow and green.
• White colour is controlled by dominant gene W and
yellow colour by dominant gene G. White is dominant
over both yellow and green.
• The green fruits are produced in recessive condition
(wwgg). A cross between plants having white and
yellow fruits produced F1 with white fruits. Inter-
mating of F1 plants produced plants with white, yellow
and green coloured fruits in F2 in 12 : 3 : 1 ratio (Fig.
below). This can be explained as follows.

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 Recessive Epistasis (9:3:4)
• f the recessive genotype at one locus (e.g., aa)
suppresses the expression of alleles at the В
locus, the A locus is said to exhibit recessive
epistasis over the В locus.
• Only if the dominant allele is presentat the A
locus can the alleles of the hypostatic В locus be
expressed.
• The genotypes A-B- and A-bb produce two
additional phenotypes.
• The 9:3:3:1 ratio becomes a 9 : 3 :4 ratio.
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 Example: Grain colour in maize
• There are three colours of grain in maize, viz.,
purple, red and white. The purple colour
develops in the presence of two dominant genes
(R and P), red colour in the presence of a
dominant gene R, and white in homozygous
recessive condition (rrpp).
• A cross between purple (RRPP) and white (rrpp)
grain colour strains of maize produced plants
with purple colour in F1. Inter-mating of these
F1 plants produced progeny with purple, red and
white grains in F2 in the ratio of 9 : 3 : 4

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 Duplicate Genes with Cumulative Effect
(9:6:1)
• If the dominant condition (either homozygous or
heterozygous) at either locus (but not both) produces
the same phenotype, the F2 ratio becomes 9:6: 1.
• For example, where the epistatic genes are involved in
producing various amounts of a substance such as
pigment, the dominant genotypes of each locus may be
considered to produce one unit of pigment
independently. Thus genotypes A-bb and aaB- produce
one unit of pigment each and therefore have the same
phenotype. The genotype aabb produces no
pigment,but in the genotype A-B- the effect is
cumulative and two units of pigment are produced.
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 Example
Fruit shape in summer squash
• . There are three types of fruit shape in this plant,
viz., disc, spherical and long. The disc shape is
controlled by two dominant genes (A and B), the
spherical shape is produced by either dominant
allele (A or B) and long shaped fruits develop in
double recessive (aabb) plants.
• A cross between disc shape (AABB) and long
shape (aabb) strains produced disc shape fruits in
F1. Inter-mating of F1 plants produced plants with
disc, spherical and long shape fruits in 9 : 6 : 1
ratio in F2 (Fig.below). This can be explained as
follow.
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 Duplicate Dominant Genes (15 :1)
The 9:3:3:1 ratio is modified into a 15:1 ratio if the
dominant alleles of both loci each produce the
same phenotype without cumulative effect.
Example: The awn character in rice. Development of
awn in rice is controlled by two dominant duplicate
genes A&B.
• Presence of any of these two alleles can produce
awn. The awnless condition develops only when
both these genes are in homozygous recessive
state (aabb). A cross between awned and awnless
strains produced awned plants in F1. Inter-mating
of F1 plants produced awned and awnless plants in
15 : 1 ratio in F2 generation
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 Duplicate Recessive Genes (9:7)
• In the case where identical phenotypes are produced
by both homozygous recessive genotypes, the F2 ratio
becomes 9:7.
• The genotypes aaB-, A-bb, and aabb produce one
phenotype. Both dominant alleles, when present
together, complement each other and produce a
different phenotype.
• Example: The purple colour of flower in sweet pea is
governed by two dominant genes say A and B. When
these genes are in separate individuals (AAbb or aaBB)
or recessive (aabb) they produce white flower.

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 Dominantand Recessive Interaction
(13:3)
• Only two F2 phenotypes result when a
dominant genotype at one locus (e.g., A-) and
the recessive
• genotype at the other (bb) produce the same
phenotypic effect. Thus A-B-, A-bb, and aabb
produce one
• phenotype and aaB- produces another in the
ratio 13:3 .

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 Example
Anthocyanin pigmentation in rice
• The green colour of plants is governed by the
gene I which is dominant over purple colour.
The purple colour is controlled by a dominant
gene P. When a cross was made between
green (IIpp) and purple (iiPP) colour plants,
the F1 was green. Inter-mating of F1 plants
produced green and purple plants in 13 : 3
ratio in F2 . This can be explained as follows.

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 INTERACTIONS WITH THREE OR
MORE FACTORS
• At least three loci are known to govern coat colors in mice. The
genotype C- will allow pigment to be produced at the other two
loci.
• The recessive genotype cc does not allow pigment production,
resulting in "albino.“
• The "agouti" pattern depends upon the genotype A-, and
nonagouti upon the recessive aa.
• The color of the pigment may be black (B-) or chocolate (bb).
• Five coat colors may be produced by the action of alleles at these
three loci:

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 Penetrance and Expressivity
• Differences in environmental conditions or in
genetic backgrounds may cause individuals that are
genetically identical at a particular locus to exhibit
different phenotypes.
• The percentage of individuals with a particular gene
combination that exhibits the corresponding
character to any degree represents the penetrance
of the trait.

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 Example: polydactyly
• In some families, extra fingers and/or toes
(polydactyly) in humans is thought to be
produced by a dominant gene (P). The normal
condition with five digits on each limb is
produced by the recessive genotype (pp).
Some individuals of genotype Pp are not
polydactylous, and therefore the gene has a
penetrance of less than 100%.

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• A trait, although penetrant, may be quite variable in its
expression. The degree of effect produced by a
penetrant genotype is termed expressivity.
• Example: The polydactylous condition may be
penetrant in the left hand (6 fingers) and not in
the right (5 fingers), or it may be penetrant in
the feet and not in the hands.
• A recessive lethal gene that lacks complete penetrance
and expressivity will kill less than 100% of the
homozygotes before sexual maturity. The terms semi-
lethal or subvital apply to such genes.
• The effects that various kinds of lethals have on the
reproduction of the next generation form a broad
spectrum from complete lethality to sterility in
completely viable genotypes
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Figure : Pigment intensity as an example of penetrance and expressivity. Assume
that all the individuals shown have the same pigment allele (P) and possess the
same potential to produce pigment. Effects from the rest of the genome and the
environment may suppress or modify pigment production in any one individual.
The color reflects the level of expression.
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