Chapter 01

Genetics

All living organisms reproduce. Reproduction results in the formation of offspring of the same kind. However, the
resultingoffspring need not and, most often, does not totally resemble the parent. Several characteristics may diter
between individuals belonging to the same species. These differences are termed variations. The mechanism of
transmission of characters, resemblances as wel as differences, from the parental generation to the offspring, is called
heredity. The scientific study of heredity, variations and the environmental factors responsible for these, is known as
genetics (from the Greek word genno = give birth).The word geneticswas first suggested to describe the study of
inheritance and the science of variation by prominent British scientist Wiliam Bateson.
Genetics can be divided into three areas: classical genetics, molecular genetics and evolutionary genetics. In classical
genetics, we are concerned with Mendel's principles, sex determination, sex linkage and cytogenetiçs. Molecular genetics
is the study of the genetic material: its structure, replication and expression, as well as the information revolution
emanating from the discoveries of recombinant DNA techniques. Evolutionary genetics is the study of the mechanisms
of evolutionary change or changes in gene frequencies in populations (population genetics).

1.1 Classical genetics

1,1 Mendelian genetics,
Gregor Johann Mendel (1822-1884), known as the Father of Genetjcs, was an Austrian monk. In 1856, he published the
results of hybridization experiments titled Experiments on Plant Hybrids in a journal "The proceeding of the Brunn
society of natural history" and postulated the principles of inheritance which are popularly known as Mendel's laws.
But his work was largely ignored by scientists at that time. In 1900, the work was independently rediscovered by three
biologists - Hugo de Vries of Holland, Carl Correns of Germany and Erich Tschermak of Austria. Mendel did a statistical
study (he had a mathematical background). He discovered that individual traits are inherited as discrete factors which
retain their physical identity in a hybrid. Later, these factors came to be known as genes. The term was coined by
Danish botanist Wilhelm Johannsen in 1909. A gene is defined as a unit of heredity that may influence the outcome of
an organism's traits.

Mendel's experiment
Mendel chose the garden pea, Pisum sativum,for his experiments since it had the following advantage.
1. Well-defined discrete characters
2. Bisexual flowers
3. Predominant self fertilization

4. Easy hybridization
5. Easy to cultivate and relatively short life cycle

1
Genetics
Characters studied by Mendel and
The Mendel were clear cut
charactSucheristics
discrete.
of an organism are
clear-cut,
Traits studied by
described as characters or traits, characters. Mendel studied seven characters/
traits (all having two discrete characteristiCs are knOwn asMendellan
variants) and these are:
Dominant Recessive
1.
Stem length Tall Dwarf
2. Flower position
Axial Terminal
3.
Flower colour Violet White
Seed coat colour White
4 Grey
Pod shape Inflated Constricted
5 Pod colour
Green Yellow
6. Cotyledon colour Yellow Green
7. Seed form Wrinkled
Round
that
Flower colour is positively correlated with seed coat coats were produced by plants
colours. Seeds with white seed
ndd white flowers and those with gray seed coats came frorrm plants that had violet flower.

What is an allele?
different versions of a particular inherited
s e miay exist in alternative forms known as alleles. which code for
Chardcter. We may also define alleles as genes occupving corresponding positions on homologous chromosomes and
Controlling the same characteristic (e.a.. height of plant) but producing different effects (tall or short). The term
momorogous rerers to chromosomes that carry the same set of genes in the sane sequence, although they may not
necessarily carry identical alleles of each gene.

Wild-type versus Mutant alleles

Prevalent alleles in apopulation are called wild-type alleles. These typically encode proteins that are made in the right
amount and function normally. Alleles that are present at less than 1% in the population and have been aitered by
mutation are called mutant alleles. Such alleles usually result in a reduction in the amount or function of the wild-type
protein and are most often inherited in a recessive fashion.

Dominant and Recessive alleles

Adominant allele masks or hides expression of a recessive allele and it is represented by an uppercase letter. A
recessive allele is an allele that exerts its effect only in the homozygouS state and in heterozygous condition ts
lowercase letter.
expression is masked by a dominant allele. It is represented by a

Homozygous and Heterozygous

trait - they may be:
Each parent (diploid) has two alleles for a
trait.
1. Homozygous, indicating
they possess two identical alleles for a
poSsess twO dominant alleles for a trait (TT
a. Homozyqous dominant genotypes
possess two recessive alleles for a trait (tt)
b. Homozygous recessive genotypes
trait (Tt)
p05sess one of each allele for a particular
2 Heterozygous genotypes
 Genetics

t Alleles of the same gene

A
Alleles of different genes
B
C C Homozygous dominant alleles

Homozygous recessive alleles

Heterozygous alleles

Figure 1.1 : Homologous chromosome.

Genotype and Phenotype

To distinguish physical appearance from the genetic constitution, two different terms are used in genetics i.e., genotype
and phenotype. The genotype is defined as the genetic constitution of an individual for any particular character or trait.
The genotype of an individual is uSully expressed by a symbol e.g., tt, Tt or TT etc. The phenotype is defined as the
physical appearance of an individual for any particular trait. The phenotype of an individual is dependent on its genetic
constitution.

Mendel's laws of inheritance

On the basis of hybridization experiment on Pisum sativum, Mendel proposed the principles of inheritance known as
Mendel's Laws:

Law of segregation
Ôn the basis of the monohybrid cross (across involving only one trait), Mendel formulated the lawof segregation. This
law states that each individual possesses two factors (later termed as genes) for a particular character. At the time of
formation of gametes each member of the pair of genes separates from each other so that each gamete carries only
one factor. (gene) i.e., gametes are always pure (law of purity of gametes). It also explains that hereditary factors are
discrete and don't blend when present together. Law of segregation applies only to diploid organisms that form haploid
gamete to reproduce sexually

Explanation
Let's use Mendel's crosS of tall and dwarf pea plants as an example. The letters T and t are used to represent the alleles
of the qene that determine plant height; by conventions the upper case letter represents the dominant allele and the
recessive allele is represented by the same letter in lower case. For the P cross, both parents are true breeding plants:
the tall plant is homozygous for the tall allele 'T, while the dwarf plant is homozygous for the dwarf allele 't. Mendel
tracked each trait through two generations. P generation is the parental generation in a breeding experiment. When
true breeding plants were crossed to each other, this is called a P cross and offspring comprise the first filial or F1
generation. When the members of the F1 generation were crossed, this produced the F2 generation or second filial
generation. Across between true breeding talland dwarf plants of the P generation yield phenotypically tallplants. Now
understand the reason why all the plants were tall in F1 generation which were obtained by crossing of pure tall with
pure short plants. To determine the kind and frequencies of various types of offsprings expected, we usually use
Punnett squares (used to predict the outcome of simple genetic crosses, proposed by R. Punnett). The genetic constitution
of gametes of one sex is kept on top of the squares and those of other sex on one side. The genetic constitution of all
possible zygote is then entered in squares of the grid.

3
 Genetics

Dwarf
P generation Tall tt

Gamete

F1 generation Tt
Tall
Female gamete
gamere
Male t

Tt Tt

Tt Tt
T

and dwarf pea plants. The symDos

Pigure 1.2: The monohvbrid cross between tall of mature plantS.
dwarf alleles respectively. in the genotypes
od t designate the tall and

number of chromosomes
each other. The
At the time of formation of
of gametes, members of the pair of genes separate from
homologous loci separates from each other SO tnat each
to ia In gametes. Thus the pair of gene presents at
gamete carries only one gene, never both as depicted in figure l.2.
wnen plants with these genetic constitutions are crossed (mated). the offspring gets 'T' gene from one parent and t

F1 generation
-
gene from the other. Al the hybrid plants of F1 generation are genetically heterozygous with the genotype Tt.

Tall
Tall
Tt Tt

Gamete or t Tor t
a /
Male gamete
Female
gamete Lt
T TT Tt
Tall Tall
F2 generation
t Tt tt
Tal Dwarf

Genotypic ratio = 1:2:1

Phenotypic ratio = 3:1
Einure 1.3 : The use ofaPunnett square in
generating the F2 ratio from the F1 x F1 crose

Though allthe hybrid plants of F1 generation are genetically Tt but allthese

plants with genetic constitution TT. Thus, we see that though their
plants were tall simnilar to the
physical appearance is same (all pure bred tali
genetic constitution has different TT and Tt. tal) but their
 Genetics

When plants of F1generation were allowed to self-pollinate,both tall and short plants appeared in the second generation
(F2). From figure 1.3, it is evident that all the plants of F1 generation (hybrid) were tall, but in F2 generation both tail
and short plants appeared. This indicates that the character of taliness dominates or conceals the character of shortness
in first generation so that the character of shortness could not appear at all. Thus, the character of taliness which
expressed itself in heterozygous condition (Tt) in F1generation is considered as a dominant character and gene Tis
considered as dominant gene. On the other hand. the character for shortness, which could not expre$s itself in the Fl
generation, s considered as recesslve and gene 't' is considered as recessive gene, Thus, a recessive gene 't cannot
express itselr when it is in a single dose. However, the character of shortness reappeared in F2 generatjon, where
genes were in double dose (tt) and the dominant gene (T) was absent. Genotypic ratio 1:2:1 or a phenotypic ratio of
3:1 (classical Mendelian ratio) provides the best test of Mendel's law of
segregation.
Mendel's 3:1 phenotypic ratio of monohybrid cross states that
a. F1 hybrids Contained two factors for each trait, one dominant and one recessive;
b. Factors separated when gametes were formed: a gamete carried one copy of each factor;
C. The random fusion of all possible gametes occurred
upon fertilization.
Test cross

Atest cross is between an individual with dominant phenotype and individual with a recessive phenotype to see if the
individual with dominant phenotype is homozygous or heterozygous. For example, consider the case in which a test
cross is performed with a dwarf pea plant and a tall pea plant of unknown genotype.
Scenario A: The tall pea plant is homozygous.
P Tall plant (TT) X Dwarf plant (tt)
Gametes only T only t
F1 Tt (tall)
Conclusion: The tall plant must be producing only one kind of gamete and, thus, it is homozygous dominant (TT).
Scenario B: The tall pea plant heterozygous.
P Tall plant (Tt) Dwarf plant (tt)
Gametes T and t only t
F1 1Tt (tall):1tt (dwarf)
Conclusion: The tall plant must be producing two kinds of gamete and, therefore, it is heterozygous dominant (TT).

taw of independent assortment

The law of independent assortment was deduced from Mendel's experiment with dihybrid cross. A cross that involves
the analysis of two independent traits is termed a dihybrid cross. This law states that assortment of genes of one pair
is independent of the other pair at the time of gametogenesis i.e., each pair of contrasting character behaves
independently and bears no association with a particular character. Because of such an independent assortment of
characters, new combinations of characters are produced in the offspring.

Explanation
Suppose crosses are made between a pea plant with round and yellow seeds and one with wrinkled and green ones. AI
F1 hybrids give yellow and round seeds. Since yellow colour is dominant over the green and the round shape is
dominant over the wrinkled. When the F1 hybrid plants are crossed to each other or atlowed to self fertilze, an F2
generation forms as represented in the following figure 1.4.
Now we have one question. Isthe segregation of the seed colour characters independent of that of the seed shape or
are the two characters somehow tied together?
Since the original varieties crossed had yellow round and green wrinkled seeds respectively, will the yellow colour
continue to be associated with the round shape and the green colour with the wrinkled shape of the seeds? Or will all
combinations of the characters appear?
 Genetics

vyrr
YYRR
Green- wrinkledseed
P generation
Yellow-Round seed

Yr

Gametes | YR

YyRr
F1 generation
Yellow-Round seed

self fertilize.
plants are allowed to
Tne Fi hybrid
YyRr
X
YyRr

+YRYr +YRyr]
Gametes YR YrYR yr|

Yr YR yr
YR
F2 generation
YR YYRR YYRr YyRR YyRr

Yr YYRr YYrr YyRr Yyrr

yyRR yyRr
YR YyRR YyRr
YyRr Yyrr yyRr yyrr

self-fertilized
Figure 1.4 : Analysis of the dihybrid crosses. The F1 heterozygous plants are
to produce a F2 generation, which is computed using a Punnett square.

The outcome of the dihybrid cross makes it very clear that segregation of the seed colour is independent of the seed
shape, and both the parental and new combinations of the characters appear in the F2 offspring. i.e., assortment of
genes of one pair is independent of the other pair.
In the above figure 1.4, F1 hybrid plants (YyRr) produce four kinds of gametes in equal frequencies (YR, yR, Yr, yr). It
can be figured out in the following way:

Allele 1 Allele 2 Gametes Frequency

+R YR

Yr,
YR

6
 Genetics

These gametes, then, randomly combine in the F coss. The use of a

Punnett square helps to denónstate al o
possible combinations
of these gametes.
Summary of F2 generation:
Genotype
RRYY
Phenotype Number
Round Yellow 1 (1/16)
RRYy
Round Yellow 2 (2/16)
RRyy Round Green 1 (1/16)
RrYY
Round Yellow 2 (2/16)
RrYy Round Yellow 4 (4/16)
Rryy Round Green
rrYY
2 (2/16)
Wrinkled Yellow 1 (1/16)
rrty Wrinkled Yellow 2 (2/16)
rryy Wrinkled Green 1(1/16)
Tnus, Ith complete dominance, a self-fertilized dihybrid gives a 9:3:3:1 phenotypic ratio in its
offspring (F2). A
1:2:1:2:4:2:1:2:1 genotypic ratio also occurs in the F2 generation, From this results, it is evident that each pair or
Contrasting characters behaves independently and bears no association with aparticular character.

Dihybrid test cross

Monohybrid test cross with a homozygote (TT) gives all one phenotype, while a test cross with a heterozygotê (1t)
gives a 1:1 phenotypic ratio indicating that one pair of factors is segregating. A dihybrid test cross with a
double
heterozyYgote (RrYy)gives 1:1:1:1 genotypic and phenotypic ratio, indicating that two pairs of factors are segregating
and assorting independently.
P generation Round and Yellow Wrinkled and Green
(RrYy) (rryy)
Gametes RY | Ry |Y|ry only ry
Offspring 1/4 RrYy, Round and yelow
1/4 Rryy, Round and green
1/4 rrYy, Wrinkled and yellow
1/4 rryy, Wrinkled and green

In sum, atest cross is adevice that can be used to infer the Mendelian alleles present in parental gametes based on the
observation of offspring phenotypes. Specifically, the ratio of phenoty pes in a set of offspring reveals missing information
about one of the parent's genotypes. Test crosses may also be used to determine whether two genes are linked, as well
as to determine the underlying genoty pe if an allele's penetrance is less than 100%.

Incomplete dominance
Incomplete dominance or partial dominance or semidominance is a condition when neither allele is dominant over the
other. The condition is recognized by the heterozygotes expressing an intermediate phenoty pe relative to the parental
phenotypes. For example, in Four O'clock plants (Mirabilis jalapa) when the red flowered plant is crossed with the white
one,pink flowered F1 plants obtained. If pink flowered F1 plants are crossed, the F2 plants appear in a phenotypic ratio
of 1:2:1, having red, pink and white. In this case, red colour producing gene is not completely dominant over the allele
producingwhite colour. So, genotypic and phenotypic ratio is same and equal to 1:2:1.

7
Genetics
White (Fenale)
Red (Male)
P generation RR
RR

Gametes R R R R

F1 generation RR

Pink

Ihe F1 hybrid plants are allowed to self fertil1ze

Female
Male R,R X R,R,

R or R. R or R,

Male gamete
gamete
Female R R

R R,R, R,R,
Red Pink
F2 generation
R,R, R,R, Genotypic ratio = 1:2:1
R
Pink White Phenotypic ratio =1:2:1

Figure 1.5: Incomplete dominance in Mirabilis jalapa show outcome of pink colour:

Codominant alleles
Alleles that lack dominant and recessive relationship, and are both observed phenotypically to same degree, are called
COdominant. So, the phenotypiceffect of each allele is observable in the heterozygous condition. The heterozygous genotype
alleles governing the M-N blood
gives rise to aphenotype distinctly different from either of the homozygous qgenotype. The
ratio remain same.
group in human are examples of codominant alleles. In this case, genotype and the phenotype

Multiple alleles
alternative forms for each character:.
In each of the seven pairs of characters studied by Mendel, there were only two
When more than two different forms of a given gene exist in a species, they are referred to as multiple alleles. A
RBCs of people with type
classical example of multiple alleles is found in the ABO blood group system of humans. The
A blood group contain A antigens, those
with type B blood group contain antigens, those with type AB blood group
B antigens. The rA and jB allelec
have both A and B antigens and those with type O blood groups do not hve any A or
antigen is codominant with the allele rB for
are responsible for the production of Aand Bantigens. Ihe allele 1" for the A
Aor B antigens The
the R-antigen. Both I and I are completely dominant to the allele I, which fails to specify
symbolized as (I^=I)> i.
hierarchy of dominance relationship is .
present Witnout prior exposure to the antigen The
The ABO System is unusual because antibodies can be
Serum tne antibody against the other antioen Accora:ta
aparticular ABO antigen on their RBCS will have in tneir
B blood contains anti-A antibodies, no anti-A and anti-B
contains anti-B antibodies, type
plasma of type A blood
blood, and both anti-Aand anti-B antibodies are present in type O blood. However,
antibodies are present in type AB of people who have never been exposed to a
antibodies are found in the plasma different type of
high ievels of these Considered naturally oCcurring antibodies, that is, produced without any known exposure
these were
blood. Consequently, people are routinely exposed at an early age to small amounts of A- andB-ike
Scientists now know that
to the antigen.
 1.1.3 Gene interaction
According to Mendel, genes are functioning independently of each other i.e., each of seven traits considered was
controlled by a single gene. But many traits of an organism are determined by the complex contribution of many
different genes. When two or more different genes (non-allelic) influence the outcome of single trait, this is known as
a gene interaction.
Thefirst case of two different genes interacting to affect a single trait was discovered by William Bateson and Reainald
Punnett in 1906. They discovered an unexpected gene interaction when they studied crosses involving the sweet pea.
Lathvrus odoratus. When they crossed true breeding purple fiowered plant to atrue breeding white flowered plant. the
E1 Qeneration was all purple flowered plants and the fz generation (produced by self fertilization of the F1 generation)
contained purple and white flowered plants in a 3:1 ratio. But when they crossed two different varieties of white
fiowered olant then all F1 generation plants had purple fiowers. When these purple flower plants were allowed to self
fortized the F2 aeneration contained purple and wnite nowers in d raio or purple : 7 white. How can this unexperted

14
 Genetics

resuit be explained? This

surprising result explained by Bateson and Punnett by considering the involvernent of two
different (non-alelic) genes; because thewas
F2 9 7ratio is a variation of the 9 3:3: 1ratio. Let us consider the
formation of the purple pigment in which products of two
different genes are invoveo.
Genotype Genotype
(CC or Cc) (PP or Pp)

Colourless precursor Enzyme A Enzyme B

Colourless intermediate Purple pigment
(Anthocyanin)
C (purple colour producing) allele is dominant to c
(white)
P (purple colour
producing) allele is dominant to p (white)
In ne above pathway, a colourless precursor molecule must be acted on by two different enzymes to produce the
purple pigment. Gene C encodes afunctional enzvme A. which converts the colourless precursor into àCoiouress
intermediate and finally gene P encodes enzyme B. which aives purple colour by converting colouriess internedtate. T
any or these two genes willbe in homozygous recessive condition (cc or pp) then purple colour will not appear. Thus the
genotype cc can hide or mask the phenotype expression of genotype PP or Pp.
Pgeneration White flowered plant White flowered plant
(CCpp) (ccPP)

F1 generation All purple

(CCPp)
The F1 hybrid plants are allowed to self fertilize
CCPp x CcPp

CP Cp CP cp

-
CE CCPP CCPp CcPP CcPp
Purple Purple Purple Purple
Cp CCPp CCpp CcPp Ccpp
Purple White Purple White
F2 generation
CP CcPP CcPp cCPP ccPp
Purple Purple White White

cp CCPp Ccpp cCPp CCpp

Purple White White White

Figure 1.8 :9:7 phenotypic ratio in F2 generation.

The purple colour appears only when dominant alleles of both genes are present. When one or both genes have only
recessive alleles, the colour will be white.

Epistasis
Term epistasis (Greek for standing upon) describes atype of gene interaction when one gene masks or modifies the
expression of another gene at distinct loCUs. Any gene that maskS the expression of another non-allelic gene is
epistatic to that gene. The gene suppressed Is hypostatic. In the pathway discussed for formation of purple colour,
when either is homozygous recessive (cc or Pp) that gene is epistatic to the other.
Epistasis is different from dominance. Epistasis is the interaction between different genes (non-alleles). Dominance is
the interaction between different alleles of the same gene i.e., intraallelic.

15
Genetics
Table 1.3
Comparison between dominance and epistass
Dominance Epistas1s
Aletic suppression Non altelic suppression.
It alleles.
involves a single pair of alleies It involves
two pairs of non-alleie
A gene expression of its
suppresses the expression of its allele Suppresses the both dorminant
and
A gene the effect of
The effect of a suppresses
recessive allele is suppressed. Epistatic aliele
recessive non -allele.
recessive allele
The effect is only due to to dominant or
due
dominant allele Epistasis may be
the masking
Now the term interaction that involves
epistasis has come to be Synonymous with almost any type of gene number of
phenotypes
or modifying of one of the between two gene loci, the
gene effects. When epistasis is operative four, 9:3
case of dihybrid crosses is
appearing the offspring will be less than four (normal F2 phenotypic
in classes in
3 ) . Such bigenic (two genes) epistatic interactions may be of several types

Dominant epistasis (12:3: 1) domiant

termed as
When the dominant allele of one second gene, it is
gene masks the effects of either allele of the regardlesS of
epistasis. When the dominant allele at one locus, for example, the A allele produces a certain phenotype the
the allelic B locus. Furthermore, Since
condition locus, then the Alocus is said tO be epistatic to the
of the other loc
Only
dominant allele A is able to express itself in the is a case of dominant epistasis.
presence of either B or b, this
when the genotype (aa), can the alleles of the
of the individual is
homozygous recessive at the epistatic locus where as
hypostatic locus (B or b) be expressed. Thus the genotypes A-B- and A-bb produce the same phenotype,
aaß- and aabbproduce 2additional phenotypes. The classical 9:3:3: 1ratio becomes modified into a12: 3:1ratio.
Explanation : Let us take the following case. in which F2 nhenotvpic ratio is 12 Purple : 3 Red : 1 White.

Parent 1 Parent 2
AA bb aa BB
(Purple) (Red)
F1
AaBb
(Purple)

F2
12 Purple : 3 Red : 1White

In this example, two non-allelic genes are interacting because the F2 phenotypic classes obtained is less than 4. This
phenotypic ratio can be explained by following consideration:
Enzyme A
Purple product

White substance

Red product
Enzyme B

In this case, enzymes Aand Bcompete for the same substrate. Enzyme A, which converts the substrate to a nurnle
product. has much higher affinity for substrate tnan enzyme b, wnich converts the substrate to a red prod uct Tha
Aiference in the affinity for the substrate is so marked that enzyme Bcan only work effectively if no enzyme ie
present. So,

16
 Genetics

AAB81), AABO2), AaB82)

A804). AAbD(1 ), Aabb2) These have at ieast one functional alele Aand convert all the substretes to
purpie product

Red 3) Lack any functional enzyme A, but have a funtional enzyme B, which coverts
the substrate to a red product.
Have no functional enzymes and cannot synthesize any coloured pigment.
8e)

Recessive epistasis (9 3 : 4)
In the case of reressive epistasis. in a pair of non- alielic oenes one produces its phenotypic eftect
indeperoeuy
ominsnt state, but another cannot produce a phenotypic efect independently. However, the latter can produce its
eet et tey dre together in dominant state., For examole, Aand Bare two non-allelic genes and Acan produce a
phenoypCerect independentBy in dominant state., but second gene Bcannot produce a phenotypic effect independently.
In this case, the recessive genotype aa suppresses the exoression of alleles at the B locus. But, in the presence ot
dOminant 3iee at the A locus, the alleles of the B locus express. Thus the genotypes A-8- and A-bb produce two
adoitonal phenotypes. The 9: 3:3:1 ratio becomes a 9:3:4 ratio.
Expanation : Let us take the following case, in which F2 phenotypic ratio is 9 Purple : 3 Red : 4 White.
Parent 1 Parent 2
AA bb aa BB
(Red) (White)
F1
AaBb
(Purple)

F2
9 purple:3red : 4 white
enzyme A would be red in
In this example, the biochemical pathway would again be asimple chain, but the product of
colour.
Enzyme A Enzyme B
White substance Red product Purple product

AABB(1), AaBB(2), AABD(2), AaBb(4) have at least one functional copy of both A and Band therefore can synthesize
(Purple 9) the purple pigment.
AAbb(2), Aabb(1) have only functional enzyme A and produce red pigment but do not convert
it to purple pigment.
(Red 3)
have no functional enzyme Aand so cannot synthesize the red product that
aaBB(2), aaBb(1)
is the substrate for enzyme B and will remain white.
have no functional enzymes and cannot synthesize the purple pigment.
aabb(1)
(White 4)

Duplicate recessive epistasis (9 : 7)

and runctional products from both are required for expression,
If two non-allelic genes are involved in a specific pathway phenotvpe. In such case the
homozygous recessive allele at either allelic pair would result in the mutant
then one
phenotype and genotype AABB, Aa88, AABb, AaBb produce
genotype aaBB. aaBb, AAbb and aabb produce one
other for the correct phenotype, these non-allelic
another phenotype. Because both dominant alleles complement each
interaction is als0 termed as complementary gene interaction.
genes are called complementary genes. Hence, this
17
 Genetics
Duplicate
If the allelesdominant interaction
of both gene (15 the1)same
loci produce phenotype without cumulative effect, the 9: 3:3: 1l ratio is modified
into 15 1 ratio. Duplicate gene interaction allowS dominant alleles of either duplicate gene to produce the wild-type

phenotype. Only organisms with homozygous recessive of both genes have a mutant phenotype.
The In wheat, kernel
colour
mechanism
is
by which
wheat kernel colour is determined is an example of duplicate gene action.
coloured product,
dependent upon a
biochemical withreaction
and this reaction can be performed the product of either
that converts gene Aorprecursor
colourless
a colo
substance into a
gene B. Thus, having either an Aallele or
a Ballele colour.
produces
So, if two plants
colour in the kernel, but a lack of either allele wilI produce awhite kernel that is devoid of
AAbb.
with AABb, AaBB, AaBb,
Aabb, aaBB and aaBb genotype AaBb are crossed with each other, the genotype AABB, In this cross, whenever
produce the and the genotype aabb produce no colour.
a
dominant allele is present at eithercolour phenotype results. Thus, only
the double locus, the biochemical conversion OCcurs, and a colored kernel phenotypic ratio
of colour tohomozygous recessive genotype produces a phenotype with no colour, and the resulting
noncolour is 15: 1.
Enzyme A
(Product of gene A)

Precursor Product
(Colourless) (Coloured)
Enzyme B
(Product of gene B)
Dominant and recessive interaction (13: 3)
Dominant and recessive interaction is similar to dominant
epistasis but occurs when a dominant allele Or one gene
cOmpietely suppresses the phenotypic expression of alleles of another
called dominant suppression, gene. This type of
because the deviation from 9 3:3: 1 is caused by a singleepistasiS
IS Sometimes
allele that produces a
dominant phenotype.
For example, in Primula plant, the
pigment malvidin creates blue-coloured flowers.
by gene A, yet production of this Synthesis of malvidin is Controlled
pigment can be suppressed by non-allelic gene B. In this
to the A gene, So plants with the case, the B gene is dominant
genotype AaBb will not produce malvidin because of the
if two plants with genotype
AaBb are crossed with each other, the presence of the B gene. So,
aabb produce the white colour and the genotype AABB, AABb, AaBB, AaBb, aaBB, aaBb and
genotype AAbb and Aabb produce blue colour. In this
the B gene suppresses the production of case, the presence of
malvidin.
Product of gene A
Precursor Malvidin
(Colourless)
(Coloured)

Product of gene B
Summary of different forms of gene interactions
Each gene pair affecting a different character
1 Complete dominance at both gene pairs:
Example : Pisum sativum
Phenotype classes Genotypes
9 yeilow round AABB (1), AABb (2), AaBB (2), AaBb (4)
3 yeliow wrinkled AAbb (1), Aabb (2)
3 green round aaBB (1), aaBb (2)
1green wrinkled aabb (1)
Epistasis absent

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