SEX DETERMINATION

IN LIVESTOCK INCLUDING POULTRY, HUMANS

AND DROSOPHILA
 THEOREMS OF SEX DETERMINATION

• In most diploid organisms with distinct sexes, there are two categories of
chromosomes---- autosomes and sex chromosomes

• The pairs of chromosomes that are identical in shape and size in both the
sexes are called autosomes

• A pair of chromosomes in which one chromosome is morphologically

(shape and size) are dissimilar between the two sexes is called sex
chromosome, which plays a key role in sex determination

• The word sex comes from Latin word “SEXUS” which means division and
is derived from “SECARE” which means to cut or separate i.e., it is the
sum total of peculiarities of structural and function that distinguishes male
from female (separates the identity of a male from a female)
 MECHANISMS OF SEX DETERMINATION
Three factors by which sex can be determined

• Progamic:
– Sex of the organism determined before fertilization
– Ex: Birds, moths, butterflies and in some fishes
– The females are heterogametic and males are homogametic
– The sex of the offspring is determined by the nature of chromosome of the
ovum i.e., sex is fixed even at gametic formation

• Syngamic:
– Sex is determined at the time of fertilization
– Ex: Drosophila and mammals
– The females are homogametic and males are heterogametic
– The sex of the offspring depends upon the nature of the chromosome of the
sperm
• Epigamic:
– Sex of the offspring is determined after fertilization
– In some lower forms of organisms, the environment modifies and
determines the sex of the organisms
– Ex: Bonnelia virdis (sexual dimorphism)
– The female has a long proboscis, about 3 ft. in length and a body of
about 2-5 inches
– The male is ciliated and very small about 1mm in length and lives in
the oviduct of the females
– The eggs after fertilization become free swimming larva
– If the larva settles in the mud, the water environment makes the larvae
to become female
– If the free swimming larvae gets in contact with the proboscis of the
female, it gets attached to it, eventually penetrates into the oviduct and
the environment in the proboscis makes the larvae a male
 THEORIES OF SEX DETERMINATION
CHROMOSOMAL METHOD:
• McClung (1902) discovered the X chromosome, as the chromosome which
determines the sex
• He observed that the meiosis in the testis of grasshoppers, contained 10
pairs of chromosomes and also an odd chromosome with no pair
• Odd chromosome – sex chromosome which was associated with sex
determination
• Later Stenes and Wilson independently studied spermatogenesis on various
species of insects(bugs)
• They found that the females with 22 pairs of chromosomes form 11 pairs at
meiosis (haploid), but males have only 21 chromosomes, so at meiosis
there are only 10 pairs and one accessory chromosome – X chromosome
• About half of eggs carry this chromosome and other half does not.
• And fertilization of eggs by a sperm carrying the full 11 chromosomes will
result into female offspring, while fertilization of sperm with 10
chromosomes will result into a male
• Three sex chromosome systems were identified referred to as XY, ZW and
XO, which are commonly encountered in different species of animals

• However, in farm species of animals, only XY and ZW systems are found

and the terms homogametic and heterogametic sex are used to describe
these systems

• Homogametic: the sex which produces only one type of gametes with
respect to sex chromosomes

• Heterogametic: the sex which produces two types of gametes with respect
to sex chromosomes
XY system: (Heterogametic male)
• The XY system is the most common of the three systems and is found in
humans, other mammals and fruit fly.
• This system involves two types of sex chromosomes, one designated as X
and other as Y
• These X and Y chromosomes differ from each other in shape and size
• Ex: in humans, the Y chromosome is considerably smaller than X
chromosome where as in drosophila, the y chromosome is about 20%
larger than the X chromosome and has different shape
• Females possesses two X chromosomes (XX) while the males has one X
and one Y chromosome (XY).
• Male is heterogametic because it produces two types of gametes with
respect to sex chromosomes – half the gametes(sperms) carry X and half
the gametes carry Y chromosome
• Female is homogametic sex – produces only one type of gamete (egg)
carrying an X chromosome
• The fertilization of an egg carrying an X chromosome by an X-carrying
sperm produces an ‘XX’ zygoe which develops into a female while the
union of an egg with a Y-carrying sperm forms an ‘XY’ zygote which
develops into a male
• The Y chromosome is therefore associated with tendency to maleness
• The majority of the dioecious animals (those with separate sexes) have XY
method of sex determination
• In most of these animals the Y chromosome is considerably smaller than
the X chromosome.
• also., the number of genes in the Y chromosome is always much smaller
than the number present in the X chromosome
ZW system: (heterogametic female)
• The ZW system is encountered in many birds, reptiles, moths, fish, few
amphibians and many butterflies
• Here the two types of sex chromosomes are designated as Z and other as
W (the letter Z and W are used to differentiate from XY system)
• Here the males are homogametic (designated as ZZ) and females are
heterogametic (designated as ZW). Thus the sex determination mechanism
is just the reverse of that found in XY system
• Here the eggs are of two different kinds and the sex is determined by
which type of egg is fertilized, since the sperms are all alike with respect to
the sex chromosomes
i.e., the union of the Z carrying egg with a sperm produces a male
while the union of a W carrying egg with a sperm produces a female
XO system: (heterogametic males)
• The Xo system is found in numerous insect species
• Ex: bugs, grosshoppers etc, involves a single sex chromosome designated
as X
• Females carry two X chromosomes (designated as XX) while males have a
single X chromosome, designated as ‘XO’ (o indicates that X chromosome
in males has no homologues counterpart because Y chromosome is absent)
• Since each sex carries a different number of sex chromsome, there is a
difference in the total number of chromosomes carried by the female and
the males, under this system
• Females have one more chromosome than males and thus shows odd
number of chromosomes
• The one X and two X conditions determine maleness and femaleness
respectively
• Since male lack a counterpart for the X chromosome they are
heterogametic forming two types of gametes.
GENIC BALANCE THEORY
• Bridges (1921), studied that the sex determination of Drosophila revealed
that not only the sex chromosomes but also the autosomes show effect on
sex chromosomes
• He indicated that in drosophila the Y chromosome unlike that in mammals
plays no role in sex determination
• Here the sex of the fly is determined by the ratio of number of X
chromosomes to number of haploid sets of autosomes
• In Drosophila a haploid set of autosomes consists of one copy each of the
chromosome numbered (2, 3 & 4) the autosomes
• Therefore normal diploid flies have two haploid sets of autosomes (a
homologous pair of each of chromosome numbered 2, 3 & 4)plus either of
2X or XY chromosome
• It was found that in drosophila the X chromosome carries more genes that
incline the development of the individual towards femaleness and the
autosomes incline the individuals more towards the maleness
• The deciding factor of X chromosomes is the ratio between the number of
X chromosomes and of the sets of autosomes in the fertilized egg

• Sex ratio = No. of X chromosome = X

No. of haploid set of autosomes A

• According to this theory sex in Drosophila is determined by the balance

(ratio) of autosomal alleles that favor maleness and alleles on the X
chromosomes that favor femaleness. This is referred to as ‘genic balance’
• The following table gives the different sex types

No. of Ratio Total no. of Sex phenotype

Chromosomes X:A chromosomes
X A
1X 2A 0.5 7 Male (normal)
2X 2A 1.0 8 Female (normal) Diploid
3X 2A 1.5 9 Super female
4X 3A 1.33 13 Super female
4X 4A 1.0 16 Normal female Tetraploid
3X 3A 1.0 12 Normal female Triploid
3X 4A 0.75 15 Intersex
2X 3A 0.67 11 Intersex
2X 4A 0.5 14 Normal male Tetraploid
1X 3A 0.33 10 Super male
1X 1A 1.0 4 Normal female haploid
• Intersexes are sterile individuals intermediate between females and males
• Super females and super males are also sterile individuals that show minor
differences from ordinary females and males
SEX DETERMINATION IN MAMMALS
• Sex determination in mammals is mainly by the chromosome complement
i.e., an individual with XX is female and an individual with XY is a male.
Therefore the presence of Y chromosome is the key factor in determining
the maleness
• The effect of Y chromosomes in sex determination is identified very early
in the embryonic stage itself.
• Here the gene ‘SRY’ (sex determining region of Y chromosome) has been
located on the short arm of Y chromosome of humans and mouse.
• This SRY gene is responsible for the production of the testis-determining
factor (TDF) a protein transcription factor
• During early embryonic development (during the first month of embryonic
development in humans) the gonads are neutral, therefore no indication of
whether testes formation or ovaries forms.
• This early gonad had two regions
– Outer cortex
– Inner medulla
• The TDF produced by the SRY gene of Y chromosome acts on medulla of
undifferentiated gonads which develops into testes, while the cortex
degenerates
• After the formation of testes, male sex hormones are released called
testosterone, which stimulates the development of secondary sexual
characteristics like beard, heavy musculature etc
• The lack of TDF production allows the cortex of the gonads develop into
ovaries where as the medulla degenerates and the female harmones leads to
secondary sexual characteristics
• The sex of an individual is thus determined at fertilization, where XY
zygote develops to male and XX zygote to female
• This is generally referred to as chromosomal method of sex determination
but it is considered as a process of sex differentiation that leads to the
formation of gonads and finally the secondary sexual characters which is
associated with the phenotypic sex
• Thus the sex of an individual can be considered at 3 levels
– Genetic/chromosomal sex
– Gonadal sex
– Phenotypic sex
• In most of the individuals these 3 levels are consistent
i.e., XX persons – female genitalia – secondary sexual characteristics of
female
XY persons – male genitalia – male secondary characteristics
 INTERSEX
• Rarely an imbalance in the production of sex harmones modify the
phenotypic sex. Thus genetically normal persons sometimes due to
abnormalities may develop the phenotype of other sex
• Individuals having various mixture of male and female characters are
referred to as intersexes
• An intersex is a sterile individual having the characters intermediate
between male and the female
• Intersexes are classified according to the stage at which the abnormality
develops. Three categories
– Chromosomal / genetic intersex: individuals whose abnormal sexual
development is due to numerical abnormalities in sex chromosomes
– Gonadal intersex: individuals with normal chromosomal numbers but
gonads that do not correspond to chromosomal sex
– Phenotype intersex; individuals with normal chromosomal and gonadal
sex but with abnormalities in some or all of their reproductive tract and
in other sexual charactersitics
• Intersex in farm animals :
– Freemartins
– True hermaphroditism
– Pseudo hermaphroditism
– Behavioural forms
 FREEMARTINISM:
• Illustrated by Keller & Tanler (1917) and Lillie (1917)
• Twins in cattle is very common.
• They may be normal when they are either both males and both females
• Problem arises when the twins are of one male and one female. In such
conditions the male will be normal but the female is externally a female
with an abnormal reproductive system known as FREEMARTIN
• If the two ova have been released from the same ovary the zygote develop
in the same uterine horn. As the eggs increases in size the embryonic
membrane is formed in the two fetuses
• Sometimes in such cases the membranes fuse together and the blood
vessels anastomize and common vascular intercommunication is
established between the two fetuses
• Therefore the situation arises in which the sex harmones of each fetus is at
liberty to pass into the tissue of the co-twin
• So, if the two twins are of the same sex nothing happens, but problem with
the opposite sexes
• Generally, the male sex harmone is liberated before that of the female.
Therefore the female twin proceeds with sex differentiation under the
direction of male sex harmone from the co-twin and hence possess more or
less completely the organization of the male
• In such case the external genitalia are of the female pattern but the internal
organs of reproduction are more or less of that male pattern
• These bovine freemartins are
– undersized and sterile
– Gonads are intraabdominal and consists of ovary and ovotestis
– Genital tract is intersexual
– External genitalia are underdeveloped and are of female type
 TRUE HERMAPHRODITISM:
• True hermaphroditism are common in pigs and rare in cattle and horses
• In these animals one gonad may be an ovary and the other a testes or both
gonads may be ovatestis
• The testis if present is located within the abdominal cavity

Cattle:
• The true hermaphrodites of cattle have been reared as heifers because they
show external genitalia
• Testis are either rudimentary or poorly developed
• Vagina and cervix are usually underdeveloped

Goats:
• The female type shows the external appearance of a female but the animal
may have seminal vesicles
• The male type shows – the penis and descended testes ate poorly
developed and there are rudiments of female gonadal system internally
• This true hermaphroditism is a hereditary trait and more frequently seen in
certain breeds of goats like Saanen, Toggenburg and Angora and in some
milch breeds
• It has been found to be caused by a single recessive autosomal gene
• This true hermaphroditism also shows 100% linkage to polledness. It can
be eliminated by using horned breeding stock

Pigs:
• Very common
 PSEUDOHERMAPHRODITISM:
• More common in males than in females with undescended testes and
different combinations of male and female genital structures

Cattle:
• The animals resemble steers and do not exhibit heat
• The external genitalia are always of distinct female character with smaller
vulva, clitoris and mammary gland
• Scrotum may or may not be present, if present is usually empty
• Rudimentary male external genitalia include poorly developed penis
• And the internal genitalia comprise of male accessory structures
Ex: vas deferens, seminal vesicles and sometimes a prostate gland
• The majority of male pseudo hermaphrodites are born as twins to normal
calves
 Goats:
• In males the sexual organs are combinations of poorly developed male ane
female organs

Pigs:
• Males have the external appearance of gilts but with the onset of puberty
the behavior changes to boar
• Testes are located either intra abdominally or subcutaneously just below
the vulva
• In females poorly developed cervix and small or totally absent vagina
 BEHOVIORAL INTERSEXUALITY:
• Nymphomania and adrenal virilism are typical syndromes involving
behavioral intersexuality in cattle
 SEX REVERSAL
• Sex reversal: transformation of an individual functioning normally in one
sex to the opposite sex. And it is a complete reversal
• i.e., male is transformed to female and female to male (incomplete sex
reversal - intersex)
• For sex reversal to be complete, it is necessary that one kind of gonadic
structure must be completely replaced by other and all the external organs
of reproduction and the secondary sexual or gonadic characters must be
capable of becoming remodeled or replaced
• Sex reversal cannot occur in mature individual, as they do not respond to
any external stimuli as both the external and internal genitalia are already
well developed
• Sex reversal also cannot occur in cases were one of the two sexes, that is
the opposite sex of the normal functioning one undergoes complete
atrophy
• Mammals:
Sex reversal is little complicated in mammals because of the
complex genital apparatus which differentiate early in the embryonic life

• Birds:
In birds the external genitalia of the two sexes are very similar.
So, it is possible to masculanise a female and feminise a male by means of
appropriate gonad implantation
Natural sex reversal may occur on two conditions
– Gonadectomy through disease
– Development of new sex cord
The development of new sex cords can occur only in mature birds
which develops into testicular tissue
Hence, complete sex reversal may be possible in case of the hen i.e., the
hen can transform into a cock, but the cock can never become a functional
hen
• Crew (1923) worked on a typical case of complete sex reversal in Buff
Orpington hen. The hen laid eggs upto 3½ yrs, later suddenly ceased laying
eggs.
• It gradually developed comb, wattle and spur and also pattern of cock
feathers. It was crossed with a pullet and the eggs were collected and
incubated, two chicks were hatched out
• Sex reversal is complete
 GYNANDROMORPHS
• Intersexual condition, where the female tissue is on one side of the body
and the male on the other
• Morgan and Bridges explained the origin of gynandromorphs using the
chromosomal theory of sex determination
• Is is generally observed in insects in which sex harmones are absent and
the control of sex is by the chromosomal complement
• The different patterns of gynandromorphs seen are
– Most commonly seen is the bilateral type of gynanders in which one
side is fully male and another fully female
– In some it may be antero-posterior and in some it may be a patchwork
of female and male tissue called as sex moasaic
• Ex:
– In Drosophila gynandromorphs arise from zygotes that have originally
XX chromosomes i.e., normal females
– Due to some misdivisions in the first mitotic division and one of the X
chromosome may be lost in some of the cells.
– The body parts formed by the cells that have a single X chromosome
develop into males where as the cells that keep both XX give rise to
female parts of the gynandromorph

– Another mechanism was discovered in the silkworm moth by

Goldschmidt and Katuski
– Here some eggs possess two nuclei instead of the normal one and when
fertilized both nuclei may be fertilized by different spermatozoa
– If one of the nuclei contains an X and the other a Y chromosome, the
body that develops will have some parts of female and others of male
• The antero-posterior gynandromorphism is noticed in the wasp . A male
head with female abdomen and a female head with male abdomen is seen
 PARTHENOGENESIS
• The development of an unfertilized egg as an individual is known as
parthenogenesis.
• This is a mode of sex determination in the order Hymenoptera like honey
bees, ants and wasps
• From fertilized eggs of honey bees – queens and workers
unfertilized eggs ------ males (drones)
• The male honey bee has 16 chromosomes, while female has 32
chromosomes(16 pairs)