Lecture No: 22

SEX DETERMINATION
Sex refers to the contrasting features of male and female individuals of the
same species. Thus sex is usually of two types viz., male and female. Sex
determination is a process of sex differentiation which utilizes various genetical
concepts to decide whether a particular individual will develop into male or female.
Plants also have sex as there are male and female parts in flowers. All organisms,
however do not possess only two sexes. Some of the protozoa may have as many
as eight sexes. In most higher organisms, the number of sexes has been reduced
to just two. The sexes may reside in different individuals or within the same
individual. An animal possessing both male and female reproductive organs is
usually referred to as hermaphrodite. In plants where staminate and pistillate
flowers occur in the same plant, the term of preference is monoecious Eg. maize,
castor, coconut etc. However, most of the flowering plants have both male and
female parts within the same flower (perfect flower). Relatively few angiosperms
are dioecious i.e. having male and female elements in different individuals Eg:
cucumber, papaya, asparagus, date palm, hemp and spinach. The sex cells and
reproductive organs form the primary sexual characters of male and female
sexes. Besides these primary sexual characters, the male and female sexes differ
from each other in many somatic characters known as secondary sexual
characters.

Whether or not there are two or more sexes in the same or different
individuals is relatively unimportant. The importance of sex itself is that it is a
mechanism, which provides for the great amount of genetic variability
characterizing most natural populations.

The various mechanisms of sex determination are:

1. Chromosomal sex determination

2. Genic balance mechanism
3. Male haploidy or Haplodiploidy mechanism
4. Single gene effects (or) monofactorial mechanism of sex determination
5. Metabolically controlled mechanism
6. Hormonally controlled mechanism
7. Sex determination in Coccinia indica and Melandrium album,
8. Sex determination due to environmental factors
I. Chromosomal sex determination: The chromosomes, which have no relation
with sex and contain genes, which determine the somatic characters of an
individual are known as autosomes. These chromosomes do not differ in
morphology and number in male and female sex. Those chromosomes, which
differ in morphology and number in male and female sex and contain genes
responsible for the determination of sex are known as allosomes or sex
chromosomes.
Differences between Autosomes and Allosomes

Autosomes Allosomes or Sex chromosomes

1. Refer to other than sex 1. These are sex chromosomes.
chromosomes.
2. Morphology is similar in male and 2. Morphology is different in male and
female sex. female sex.
3. The number is same in both the 3. The number is sometimes different in
sexes. male and female sex.
4. Generally control traits other than 4. Usually determine sex of an
 sex. individual.
5. Number of autosomes differs from 5. Each diploid organism usually has
species to species. two allosomes.
6. Do not exhibit sex linkage. 6. Exhibit sex linkage.

The chromosomal influence on sex, in certain insects, has been shown for
the first time by McClung in 1902 to be associated with a special sex determining
‘X’ chromosome. McClung proposed that a male had one ‘X’ chromosome per cell
(XO) and a female has tw o ‘X’ chromosomes (XX). Later Stevens and Wilson
(1905) found same number of chromosomes in both sexes of milk weed bug. In
females all chromosomes were paired and the homologues were equal in size
(homomorphic). In the male, all the chromosomes were paire d, but the
chromosome identified as homologous to the “ X” Chromosome was distinctly
smaller and was called the “Y” Chromosome (Heteromorphic).

Thus, allosomes are generally of X and Y types, but in birds they are of Z
and W types. Sex with similar type of sex chromosomes (XX or ZZ) is known as
homogametic sex and with dissimilar type of sex chromosomes (XY or ZW) as
heterogametic sex. These are two types: a) Heterogametic male and
b) Heterogametic female

a) Heterogametic male: In this mechanism, the female sex has two ‘X’
chromosomes, while the male sex has only a single ‘X’ chromosome. As the male
lacks a ‘X’ chromosome during meiosis, 50% of lthe gametes carry ‘X’
chromosome, while the rest do not have the ‘X’ chromosome. Such a mechanism,
which produc es two different types of gametes in terms of sex chromosome is
called heterogametic sex. The female sex here is called homogametic sex
because it produces similar type of gametes. The heterogametic male may be of
the following two types.

i) XX – XO ii) XX – XY

i) XX - XO: In certain insects belonging to orders Hemiptera (true bugs),

Orthoptera (grass hoppers) and Dictyoptera (cockroaches), female has two ‘X’
chromosomes (XX) and are, thus homogametic, while male has only single ‘X’
chromosome (XO). This mechanism was found by C.E. McClung in 1902. The
presence of an unpaired X chromosome determines the masculine sex. The
 male being heterogametic sex produces two types of sperms, half with X
chromosome and half without X chromosome in equal proportions. The sex of
the offspring depends upon the sperm that fertilizes the egg, each of which
carries a single X chromosome. Thus fertilization between male and female
gametes always produced zygotes with one ‘X’ Chromosome from the female,
but only 50% of the z ygotes have an additional X Chromosome from the male.
In this way, ‘XO’ and ‘XX’ types would be formed in equal proportions, the
former being males and the latter being females.

Parents Female X Male

2A + XX X 2A + XO
Gametes
A+X A+X A+O

A+X A+O
A+X 2A + XX 2A + XO
Female Male

ii) XX – XY: In man, other mammals, certain insects including Drosophila, certain
angiospermic plants including Melandrium, the females possess two X
chromosomes (XX) and are thus homogametic and homomorphic, while the
m ales possess one X and one Y chromosome (XY) and are hence
heterogametic and heteromorphic. When an egg is fertilized by ‘Y’ bearing
sperm, a male is produced.

Parents Female X Male

2A + XX X 2A + XY
Gametes
A+X A+X A+Y

A+X A+Y
A+X 2A + XX 2A + XY
Female Male
b) Heterogametic female: In this mechanism the male possess two
homomorphic sex chromosomes and are thus homogametic, while the female
possesses either a single ‘X’ chromosome or one ‘X’ and one ‘Y’ chromosome
and are hence heterogametic. To avoid confusion with earlier types, instead of
X and Y, the alphabets Z and W are used. This mechanism of sex
determination is also known as “Abraxas mechanism of sex determination”
(Kuspira and Walker, 1973) The heterogametic females may be of following
two types. i) ZO – ZZ ii) ZW – ZZ

i) ZO – ZZ: This mechanism is found in certain moths and butterflies. In this case,
female possess one single ‘Z’ chromosome and hence is heterogametic. Male
possesses two Z chromosomes and thus homogametic.

Parents Female X Male

2A + ZO X 2A + ZZ
Gametes
A+Z A+O A+Z

A+Z
A+Z 2A + ZZ Male
A+O 2A + ZO Female
The sex of the offspring depends on the kind of egg.

ii) ZW – ZZ: This system is found in certain insects (gypsy moth) and vertebrates
such as fishes, reptiles and birds. In this system, the female is heterogametic
and produces two types of gametes, one with ’Z’ chromosome and the other
with ‘W’ chromosome. On the other hand, male is homogametic and produces
all sperms of same type carrying one ‘Z’ chromosome. The sex of the
offspring depends on the kind of egg being fertilized. The ‘Z’ chromosome
bearing eggs produce males, but the ‘W’ chromosome bearing eggs produce
females.

Parents Female X Male

2A + ZW X 2A + ZZ
Gametes
A+Z A+W A+Z

A+Z
 A+ Z 2A + ZZ
Male
A+W 2A + ZW
Female
II) Genic balance mechanism: By studying the sex chromosomal mechanism of
sex determination, it may appear at first glance that some genes carried by sex
chromosomes i.e. X and Y are entirely responsible for determining sex. But
this may not always be true. Extensive experiments on different organisms by
different workers have revealed the fact that most organisms generally have
inherent potentialities for both sexes and each individual is found to be more or
less intermediate between male and female. Hence may be referred to as inter
sex. There seems to exist a delicate balance of masculine and feminine
tendency in the hereditary compliment of an individual. Such a genic balance
mechanism of determination of sex was first observed and studied by C.B.
Bridges in 1921 while working with Drosophila for the inheritance of vermillion
eye colour. According to this mechanism, the sex of an individual in Drosophila
melanogaster is determined by a balance between the genes for femaleness
located in the X-chromosome and those for maleness located in autosomes.
Hence, the sex of an individual is determined by the ratio of number of its X
chromosomes and that of its autosomal sets, the ‘Y’ chromosome being
unimportant. The ratio is termed as sex index and is expressed as follows.
No. of X chromosomes X
Sex index = No. of autosomal sets = A

Different doses of X – Chromosomes and autosome sets and their effect on

sex determination

S.No. Ploidy X-Chromo- Sets of Sex index Sex

level somes autosomes (X/A ratio) Expression
1. Diploid 3(xxx) 2(AA) 1.50 }Super female
2. Triploid 4(xxxx) 3(AAA) 1.33 } or meta female
}
3. Haploid 1(x) 1(A) }
4. Diploid 2(xx) 2(AA) }
}1.00 Female
5. Triploid 3(xxx) 3(AAA) }
6. Tetraploid 4(xxxx) 4(AAAA) }

7. Triploid 2(xxy) 3(AAA) 0.67 }

 8. Tetraploid 3(xxxy) 4(AAAA) 0.75 } Inter sex
}
9. Diploid 1(xy) 2(AA) }
} 0.5 Male
10. Tetraploid 2(xxyy) 4(AAAA)
11. Triploid 1(xyy) 3(AAA) 0.33 Super male or
meta male
Individuals with sex index of 0.5 develop into normal males and those with
sex index of 1 into normal females. If the sex index is between 0.5 and 1, the
resulting individuals will be neither a female nor a male, but have an intermediate
sex expression and is called inter sex. Such individuals are sterile. Some flies
have sex index of >1, such flies have more pronounced female characteristics
than normal fermales and are called super females or metafemales. These are
generally weak, sterile and non-viable. Super male flies have a sex index value of
<0.5 and are also weak, sterile and non-viable.

Bridges drew the observation by crossing triploid females (3A + XXX) with
normal diploid males (2A + XY). From such a cross he obtained normal diploid
females, males, triploid females, intersexes, super males and super females. The
occurrence of triploid intersexes from such a cross clearly established that
autosomes also carry genes for sex determination. Triploid individuals, which had
two ‘X’ Chromosomes as in the c ase of normal female, here were inter sexes as
they had an extra set of autosomes indicating that the autosomes play a definite
role in the determination of sex.
Results obtained from a cross of a triploid (3A+XXX) female fly with a
diploid (2A+XY) male fly in Drosophila
Parents Female X Male
Phenotype Triploid X Diploid
Genotype 3A + XXX X 2A + XY
Gametes
2A + XX A+X A+X A+Y

2A + X A + XX

A+X A+Y

2A + XX 3A + XXX 3A + XXY
Triploid female Triploid inter sex
 A+X 2A + XX 2A + XY
Diploid female Diploid male

2A + X 3A + XX 3A + XY
Triploid inter sex Super male

A + XX 2A + XXX 2A + XXY
Super female Diploid female

III. Male haploidy or haplodiploid mechanism or arrhenotokous

parthenogenesis: It is common in hymenopterous insects (ants, bees, wasps). In
honey bees, queens usually mates only once during its life time and the sex ratio
of offspring is under the control of queen. Fertilized eggs develop into diploid
female and those eggs which the queen chooses not to be fertilized develop
parthenogenetically into haploid but fertile males (drones). This phenomenon is
known as arrhenotoky and is a form of reproduction as well as a means of sex
determination. Meiosis is normal during oogenesis in case of females and
produces all haploid eggs. But crossing over and reduction division fails to occur
during spermatogenesis in males due to their haploid nature. Thus arrhenotokous
parthenogenesis determines the sex in hymenopterans and sex chromosomes
have no identity here (unlike Drosophila). It seems that heterozygosity for specific
genes induces femaleness. The haploid can never be heterozygous. Most of the
eggs laid in the hive will be fertilized and developed into worker females. Further
during investigation, it has been found that the quantity and quality of food
available to the diploid larvae determines whether that female will become a
sterile worker or a fertile queen. The diploid larva, which feed on royal jelly,
develop into fertile female called queen and the remaining larvae give rise to
workers, which are sterile females. Thus, environment here determines sterility or
fertility but does not alter the genetically determined sex.

IV. Single gene effect or monofactorial mechanism of sex determination: In

Neurospora , Asparagas, Drosophila , maize and Asparagus, sex determination is
influenced by the differential action of a single autosomal gene, which over rules
the effect of sex chromosomes present in the individual.

Autosomal recessive transformer (tra) gene of Drosophila; when it is

present in the homozygous recessive state, it transforms the female (XX) zygote
to develop into males which are sterile. The gene tra is recessive and hence does
not have any effect in heterozygous condition (Tratra ) on either sex i.e male or
female. In homozygous condition, (tratra), this gene has no effect in male. When a
heterozygous (XX Tratra) female is mated with a homozygous recessive male (XY
tratra ), only 25% of the progeny are females (heterozygous) while remaining 75%
are males. Among the males, 1/3 are sterile (XX individuals homozygous
recessive for tra gene) as they are transformed to maleness by the tra.

Parents Female X Male

Genotype XX Tratra X XY tratra
Gametes X Tra X tra X tra Y tra

Progeny F1

X tra Y tra
X Tra XX Tratra XY Tratra
Female fertile Male fertile
X tra XX tratra XY tratra
Male sterile Male fertile
(Transformed)
Ratio: 3 Males : 1 Female

Monogenic control of sex has also been reported in some plants like
Asparagus, maize, papaya, spinach, etc. Asparagus is a dioecious plant.
However, rarely female flowers bear rudimentary anthers and male flowers bear
rudimentary pistils. Occasionally, male flowers with poorly developed pistils set
seed on selfing and segregate in 3 : 1 ratio of male and female.

Segregation of sex in seed obtained from a rare bisexual flower in

Asparagus showing monogenic control
Rare male plant when selfed
Pp X Pp

P p P p

P p
P PP Pp
Male Male
p Pp pp
 Male Female
Ratio: 3 Males : 1 Female

Maize being a monoecious plant bears both female (silk) and male (tassel)
inflorescences on the same plant. A recessive gene ba (barren cob) in
homozygous condition (baba) makes the cobs barren or non-functional. Similarly,
a recessive gene ts in homozygous condition (tsts) converts the male flowers of
tassel into female flowers. Thus, homozygous state of gene ba (baba) converts
the monoecious plant into male. Similarly, gene ts in homozygous condition (tsts )
converts the monoecious plant into female. The plants with both dominant genes
(Ba_Ts_) are monoecious, with babaTs _ normal male, with Ba_tsts female, and
with babatsts rudimentary females.

In papaya, the sex is postulated to be governed by three alleles, viz., m, M 1

and M 2 of a single gene. Homozygous recessive (mm) produces female plants,
heterozygous, viz., M 1m and M 2m produce male and hermaphrodite plants,
respectively. However, combination of both dominant alleles (M 1 and M 2)
produces inviable plants both in homozygous (M 1M 1 and M 2M 2) and heterozygous
conditions (M 1M 2). Crosses between female (mm) and male (M 1m) produce
females (mm) and males (M 1m) in 1 : 1 ratio. Similarly, crosses between female
(mm) and hermaphrodite (M 2m ) will produce females (mm) and hermaphrodite
(M 2m) in 1 : 1 ratio. Selfing of hermaphrodite (M 2m) plants produce hermaphrodite
(M 2m) and female (mm) progeny in 2 : 1 ratio and about ¼ of the zygotes (M 2M 2)
do not survive.

V. Metabolically controlled mechanism: Riddle found that metabolism has

some definite role in the determination of sex in pigeon and dove because
increased rate of metabolism lead to the development of maleness while
decreased rate of metabolism caused femaleness.

VI. Hormonally controlled mechanism: Crew in 1923 reported a complete

reversal of sex in hen. Female chicken that have laid eggs been known to
undergo not only a reversal of the secondary sexual characteristics such as
development of cock feathering, spurs and crewing, but also the development of
testis and even the production of sperm cells (primary sexual characteristics). This
might have occurred when a disease destroyed the ovarian tissue and in absence
of female sex hormones, rudimentary testicular tissue present in center of ovary
began to proliferate or multiply and secrete male hormones, which lead to the
development of maleness.

Sexual differentiation in man is influenced by hormones. When the testis of

the male is removed before puberty, female characteristics of body form, voice
and hair pattern develop in the adult. Tumors of adrenals in women are
associated with the development of masculine characters such as low pitched
voice and increased growth of hair.

VII. Sex determination in Coccinia indica and Melandrium album: In these

Ploidy Chromosome Constitution Sex X/A ratio

level (Autosomes ) + (Allosomes) Expression
Diploid AA + XX Female 1.00
Diploid AA + XY Male 0.50 (1/2)
Diploid AA + XYY Male 0.50 (1/2)
Triploid AAA + XXX Female 1.00
Triploid AAA + XXY Male 0.67 (2/3)
Tetraploid AAAA + XXXX Female 1.00
Tetraploid AAAA + XXXY Male 0.75 (3/4)
two organisms, studies have revealed that irrespective of number of ‘X’
chromosomes, and / or autosomal sets, presence of a single ‘Y’ chromosome is
essential to produce male flowers in diploid, triploid and tetraploid species. The
pistillate plants are XX and the staminate plants are XY.

VIII. Sex determination due to environmental Factors: In many reptiles, sex is

determined by environmental factors like temperature. In most turtle species only
females are produced at high temperature (30 – 35ºC) while only males are
produced at low temperatures (23 – 28ºC). Sex ratio changes suddenly from all
males to all females with just change in temperature of 2ºC during the incubation.
In Crocodiles and Lizards, (reverse is the case) the males are produced at high
temperature while females are produced at low temperature. In Bonellia viridis , a
marine worm, all larvae are genetically and cytologically similar. If a particular
larva settles near proboscis of adult female, it becomes a male individual. If larva
develops freely in water, it becomes a female. In some plants, sex determination
depends on day length, temperature and hormones. For example, in cucumber
(Cucumis sativa) and muskmelon, treatment with ethylene enhances production of
female flowers.

Sex linked inheritance

The characters for which genes are located on sex or ‘X’ or analogous ‘Z’
chromosomes are known as sex linked traits. Such genes are called sex linked
genes and linkage of such genes is referred to as sex linkage. Inheritance of such
genes or characters is known as sex linked inheritance. The sex linkage was first
discovered by T.H. Morgan in Drosophila and the first sex linked gene found in
Drosophila was recessive gene ‘w’ responsible for white eye colour.

Parents Female X Male

Phenotype White eye X Red eye
w w
Genotype X X X X+ Y
Gametes Xw X+ Y

X+ Y
Xw X+Xw XwY
Red eye female White eye male
When white eyed females are crossed with wild type (red eye) males, all the male
offspring have white eyes like the mother and all the female offspring have red eyes like
their father.

In human beings, colour blindness and haemophilia (bleeder’s disease) are well
known hereditary characters showing a peculiar relationship to sex.

Colour blindness : A marriage between colour blind woman and a normal man gives rise
to all normal dauthers and colour blind sons.

Parents Mother X Father

Phenotype Colour blind X Normal
c c
Genotype X X X X+Y
Gametes Xc X+ Y

X+ Y
+ c
X c
XX XcY
Normal daughter Colourblind son
 The allele for colour blindness (c) is found on both ‘X’ chromosomes of mother
and therefore she is colour blind. The only one ‘X’ chromosome of father in this marriage
carries a wild type (+) allele and hence he has normal vision. The ‘Y’ chromosome lacks
both the alleles (+ and c). The reduction division produces one kind of egg in contrast to
two kinds of sperms. Fertilization results in the usual sex ratio of 1 male : 1 female. All
the daughters have normal vision since they receive dominant allele ‘+’ from their father.
All the sons are colour blind, because their single ‘X’ chromosome derived from mother
carries the allele ‘c’ for colour blindness. This result is known as crisscross inheritance
because daughters are normal like father and sons have colour blindness like mother.
However, the daughters are heterozygous carriers. This crisscross method of inheritance is
characteristic of sex-linked genes. This peculiar type of inheritance is due to the fact that
Y chromosome carries no alleles homologous to those on the X chromosome. Thus males
carry only one allele for sex linked traits. This one allelic condition is termed as
hemizygous in contrast to homozygous and heterozygous possibilities in female. The
expression of recessive gene in hemizygous condition is termed as pseudo-dominance.

The inheritance of colour blindness can be studied in the following three other
possible types of marriages:

a) Marriage between normal woman and colour blind man:

Parents Mother X Father
Phenotype Normal X Colour blind
+ +
Genotype X X X Xc Y
Gametes X+ Xc Y

Xc Y
+ c
+
X X X X+Y
Normal daughter Normal son
(Carrier)

b) Marriage between normal (carrier) woman and normal man:

Parents Mother X Father
Phenotype Normal X Normal
+ c
Genotype X X X X+ Y
Gametes Xc X+
X+ Y
 X+ Y
X+ X+X+ X+Y
Normal daughter Normal son
Xc X+X c XcY
Normal daughter Colour blind son

c) Marriage between normal (carrier) woman and colour blind man:

Parents Mother X Father
Phenotype Normal X Colour blind
+ c
Genotype X X X XcY
Gametes X+ Xc Xc Y

Xc Y
+ c
X+ XX X+Y
Normal daughter Normal son
Xc XcX c XcY
Colour blind daughter Colour blind son
Results of possible four marriages make it clear why there are more colour blind
males than females in the population. In three marriages colour blind sons were produced
where as in only one of the marriages, colour blind daughters were observed, where the
mother is heterozygous (carrier) and the father is colour blind. Nearly all colour blind
women must come from the last type of marriage, since the only other possible source of
colour blind females is mating between two colour blind persons – naturally a rare
occurrence.
Haemophilia is a recessive sex linked disease and the inheritance pattern of
haemophilia is similar to that of colour blindness in human beings.
Genes present in the non-homologous region of the Y chromosome pass directly from
male to male. In man, the genes present on Y chromosome (holandric genes) such as the
gene causing hypertrichosis (causing excessive development of hairs on the pinna of ear)
are transmitted directly from father to son.

Sex influenced inheritance

Sex influenced ge nes are the autosomal genes present in both males and females,
whose phenotypic expression is different in different sexes in such a way that they act as
dominant in one sex and recessive in the other i.e. in a pair of alleles one seems to be
dominant in males while the other in females.

Eg.: Pattern baldness in human beings and horns in sheep. Pattern baldness in human
beings is a condition in which a low fringe of hair is present on the head in human beings.
It is a genetically inherited condition, where the allele for baldness B is dominant in males
and recessive in females. In heterozygous condition, males are bald and females are non-
bald. If a woman heterozygous for this gene marries a heterozygous bald man, in the
offspring, the ratio of bald to non-bald in males is 3 : 1, while in females it is 1 : 3.

Inheritance of pattern baldness in human being

Parents Female X Male

Phenotype Bald X nonbald
+ +
Genotype bb X bb
Gametes b
b+
F1

← b+ b →
Female (Nonbald) Male (Bald)
Phenotypic expression of pattern baldness in man and woman

Genotype Phenotype
Female Male
+ +
b b Nonbald Nonbald
b+ b Nonbald Bald
bb Bald Bald

Sex limited characters or Secondary Sexual characters

Sex limited genes are autosomal genes, whose phenotypic expression is limited to
one sex only. Their phenotypic expression is influenced by the sex hormones. The sex
limited genes are mainly responsible for secondary sex characters in cattle, human beings
and fowl. Eg.: milk production in cattle, beard development in human beings, plumage in
male fowls etc.

Milk production in cattle : Just as the cow, the bull carries genes for milk production, but
the bull obviously cannot express this trait. Bull may however transmit these genes for
high milk production to the female progeny and the male progeny are unable to express
this trait. Some bulls are so well andowed with such genes that they are known to breed
calves, which always yield greater milk than their mothers.

However, in plants no secondary sexual characters are known except the absence of one or
the other sporangia.

Differences between sex linked and sex limited characters

Sex Linked characters Sex Limited characters

1. They are located on sex or X 1. They are located on sex chromosomes or
chromosome autosomes
2. They can express in both the sexes 2. They can express in one sex only
3. Include characters not related to sex 3. Include primary and secondary sex
characters
4. Examples: White eye in Drosophila, 4. Examples: milk production in cattle,
haemophilia and colour blindness in beard development in human beings,
human beings plumage in male fowls etc
 Inter sex

In a few rare cases, various mixtures of male and female characteristics may occur in
animals, which normally have separate sexes because of var ious abnormalities of
chromosomes or hormonal deficiencies. Such individuals are called inter sex. These can
be of two types.

1. Pseudo -hermaphrodites: In mammals there are rare cases in which, both sexes are
well developed in one body, these are abnorma l and hence sterile.

2. Gynandromorphs or gynanders: Among animals and insects that do not have sex
hormones, there may be sex intergrades with distinct areas of the body showing male
and female tissues. For example: Drosophila gynander, a bilateral sex mosaic, is male
on one side and female on the other.