Sex
Determination
Sex determination is the
method by which the distinction between male and female is established in a
species. Sex chromosomes determine the sex of the individual in dioecious or
unisexual organisms. The chromosomes other than the sex chromosomes of an
individual are called autosomes. Sex chromosomes may be similar (homomorphic)
in one sex and dissimilar (heteromorphic) in the other. Individuals having
homomorphic sex chromosomes produce only one type of gametes (homogametic)
whereas heteromorphic individuals produce two types of gametes (heterogametic).
In heterogametic
sex determination one
of the sexes produces similar gametes and the
other sex produces dissimilar gametes. The sex of the offspring is determined
at the time of fertilization.
Heterogametic
Males
In this method of sex
determination the males are heterogametic producing dissimilar gametes while
females are homogametic producing similar gametes. It is of two kinds XX-XO
type and XX-XY type.
This method of sex
determination is seen in bugs, some insects such as cockroaches and
grasshoppers. The female with two X chromosomes are homogametic (XX) while the
males with only one X chromosome are heterogametic (XO). The presence of an
unpaired X chromosomes determines the male sex. The males with unpaired ‘X’
chromosome produce two types of sperms, one half with X chromosome and other
half without X chromosome. The sex of the offspring depends upon the sperm that
fertilizes the egg (Fig. 4.2).
This method of sex
determination is seen in human beings and in Drosophila. The females are
homogametic with chromosome, while the males are heterogametic with X and Y
chromosome. Homogametic females produce only one kind of egg, each with one X
chromosome, while the heterogametic males produce two kinds of sperms some with
X chromosome and some with Y chromosome. The sex of the embryo depends on the
fertilizing sperm. An egg fertilized by an ‘X’ bearing sperm produces a female,
if fertilized by a ‘Y’ bearing sperm, a male is produced (Fig. 4.3).
In this method of sex
determination, the homogametic male possesses two ‘X’ chromosomes as in certain
insects and certain vertebrates like fishes, reptiles and birds producing a
single type of gamete; while females produce dissimilar gametes. The female sex
consists of a single ‘X’ chromosome or one ‘X’ and one ‘Y’ chromosome. Thus the
females are heterogametic and produce two types of eggs. To avoid confusion
with the XX-XO and XX-XY types of sex determination, the alphabets ‘Z’ and ‘W’
are used here instead of X and Y respectively. Heterogametic females are of two
types, ZO-ZZ type and ZW-ZZ type.
This method of sex
determination is seen in certain moths, butterflies and domestic chickens. In
this type, the female possesses single ‘Z’ chromosome in its body cells and is
heterogametic (ZO) producing two kinds of eggs some with ‘Z’ chromosome and
some without ‘Z’ chromosome, while the male possesses two ‘Z’ chromosomes and
is homogametic (ZZ) (Fig. 4.4).
This method of sex
determination occurs in certain insects (gypsy moth) and in vertebrates such as
fishes, reptiles and birds. In this method the female has one ‘Z’ and one ‘W’
chromosome (ZW) producing two types of eggs, some carrying the Z chromosomes
and some carry the W chromosome. The male sex has two ‘Z’ chromosomes and is
homogametic (ZZ) producing a single type of sperm (Fig .4.5).
Genes determining sex in
human beings are located on two sex chromosomes, called allosomes. In mammals,
sex determination is associated with chromosomal differences between the two
sexes, typically XX females and XY males. 23 pairs of human chromosomes include
22 pairs of autosomes (44A) and one pair of sex chromosomes (XX or XY). Females
are homogametic producing only one type of gametes (egg), each containing one X
chromosome while the males are heterogametic producing two types of sperms with
X and Y chromosomes. An independently evolved XX: XY system of sex chromosomes
also exist in Drosophila. (Fig. 4.6).
Current analysis of Y
chromosomes has revealed numerous genes and regions with potential genetic
function; some genes with or without homologous counterparts are seen on the X.
Present at both ends of the Y chromosome are the pseudoautosomal regions (PARs)
that are similar with regions on the X chromosome which synapse and recombine
during meiosis. The remaining 95% of the Y chromosome is referred as the Non -
combining Region of the Y (NRY) . The NRY is divided equally into functional
genes (euchromatic) and non functional genes (heterochromatic). Within the
euchromatin regions, is a gene called Sex determining region Y (SRY). In
humans, absence of Y chromosome inevitably leads to female development and this
SRY gene is absent in X chromosome. The gene product of SRY is the testes
determining factor (TDF) present in the adult male testis.
Genic balance mechanisms
of sex determination in Drosophila was first studied by C.B. Bridges. In
Drosophila, the presence of Y chromosome is essential for the fertility
of male sex, but does not determine the male sex. The gene for femaleness is
located on the X chromosome and those for maleness are located on the
autosomes. When geneticist C.B. Bridges, working with Drosophila,
crossed a triploid (3n) female with a normal male, he observed many
combinations of autosomes and sex chromosomes in the offspring. From his
results Bridges in 1921 suggested that sex in Drosophila is determined
by the balance between the genes for femaleness located on the ‘X’ chromosomes
and those for maleness located on the ‘autosomes’ . Hence the sex of an
individual is determined by the ratio of its X chromosome to that of its
autosome sets. This ratio is termed sex index and is expressed as:
Change in this ratio
leads to a changed sex phenotype. The results obtained from a cross between
triploid female Drosophila (3A:3X) with a diploid male (2A: XY) is shown
in tables 4.2. and 4.3.
Table: 4.2 Bridges classical cross
of a triploid (3A+XXX) female fly and a diploid (2A+XY) male fly
When the X : A
ratio is 1.00 as in a normal female, or greater than 1.00, the organism is a
female. When this ratio is 0.50 as in a normal male or less than 0.50 the
organism is a male. At 0.67, the organism is an intersex. metamales (X/A =
0.33) and metafemales (X/A=1.50) are usually very weak and sterile.
A sex–switch gene in Drosophila
directs female development. This gene, sex–lethal (SxL) located on the X
chromosome, has two states of activity. When it is ‘on’ it directs female
development and when it is ‘off’ maleness ensures. Other genes located on the X
chromosome and autosomes regulate this sex-switch gene. However, the Y-
chromosome of Drosophila is required for male fertility.
• X-Chromosome was discovered by
Henking (1891)
• Y-Chromosome was discovered by
Stevens (1902)
These individuals have
parts of their body expressing male characters and other parts of the body
expressing female characters. The organism is made up of tissues of male and
female genotype and represents a mosaic pattern.
In 1949, Barr and
Bertram first observed a condensed body in the nerve cells of female cat which
was absent in the male. This condensed body was called sex chromatin by them
and was later referred as Barr body. In the XY chromosomal system of sex
determination, males have only one X chromosome, whereas females have two. A
question arises: how does the organism compensate for this dosage differences
between the sexes? In mammals the necessary dosage compensation is accomplished
by the inactivation of one of the X chromosome in females so that both males
and females have only one functional X chromosome per cell.
Mary Lyon suggested that
Barr bodies represented an inactive chromosome, which in females becomes
tightly coiled into a heterochromatin, a condensed and visible form of
chromatin (Lyon’s hypothesis). The number of Barr bodies observed in cell was
one less than the number of X-Chromosome. XO females have no Barr body, whereas
XXY males have one Barr body.
• The number of Barr
bodies follows N-1 rule (N minus one rule), where N is the total number of X
chromosomes present.
In hymenopteran insects
such as honeybees, ants and wasps a mechanism of sex determination called
haplodiploidy mechanism of sex determination is common. In this system, the sex
of the offspring is determined by the number of sets of chromosomes it
receives. Fertilized eggs develop into females (Queen or Worker) and
unfertilized eggs develop into males (drones) by parthenogenesis. It means that
the males have half the number of chromosomes (haploid) and the females have
double the number (diploid), hence the name haplodiplody for this system of sex
determination.
This mode of sex
determination facilitates the evolution of sociality in which only one diploid
female becomes a queen and lays the eggs for the colony. All other females
which are diploid having developed from fertilized eggs help to raise the
queen’s eggs and so contribute to the queen’s reproductive success and
indirectly to their own, a phenomenon known as Kin Selection. The queen
constructs their social environment by releasing a hormone that suppresses
fertility of the workers.
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