Introduction to

Sex
Chromosomes
CHROMOSOMES
Chromosomes are structures within cells that contain DNA, the molecule that carries the
genetic instructions for an organism's development, functioning, and reproduction
Structure:
•Chromosomes are made up of DNA tightly coiled around proteins called histones. This
combination of DNA and protein is known as chromatin.
•In humans, each cell typically has 23 pairs of chromosomes (46 total)—22 pairs of
autosomes and 1 pair of sex chromosomes (XX for females, XY for males).
Function:
•Chromosomes carry genes, the units of heredity. Each gene is a segment of DNA that
contains the instructions to make a specific protein or set of proteins.
•During cell division (mitosis and meiosis), chromosomes ensure that DNA is accurately
copied and distributed to daughter cells
Types of chromosomes
1. Autosomes:

•Definition: Non-sex chromosomes that are the same in both males and
females.
•Function: Carry genes that determine various traits and functions not
related to sex determination.
•Number in Humans: Humans have 22 pairs of autosomes (44 total).

2. Sex Chromosomes:

•Definition: Chromosomes that determine the biological sex of an

individual.
•Types:
• X Chromosome: Present in both males (one X) and females (two X).
• Y Chromosome: Present only in males (one Y along with one X).
•Number in Humans: Humans have 1 pair of sex chromosomes (2 total).
STRUCTURE OF CHROMOSOME
1. DNA Molecule:

•Basic Component: Chromosomes are primarily composed of DNA

(deoxyribonucleic acid), a long, double-stranded molecule that carries
genetic information.
•Double Helix: The DNA in chromosomes is structured as a double
helix, where two strands of nucleotides (consisting of a sugar, phosphate
group, and nitrogenous base) are twisted around each other.

2. Histones and Nucleosomes:

•Histones: DNA in chromosomes is wrapped around proteins called

histones. These histones help in organizing and compacting the DNA.
•Nucleosomes: A nucleosome is the basic unit of chromatin, consisting
of a segment of DNA wound around eight histone proteins. This bead-like
structure allows DNA to be packaged into a smaller volume.
3. Chromatin:
Chromatin is the material that makes up chromosomes, consisting of DNA, histones, and other
proteins.
•Forms:
• Euchromatin: Loosely packed chromatin, which is more accessible for transcription and
active gene expression.
• Heterochromatin: Densely packed chromatin, which is usually transcriptionally inactive.
4. Centromere:
The centromere is a constricted region of the chromosome that plays a key role during cell
division.
It is the point where the two chromatids (identical copies of a chromosome) are held together
and where spindle fibers attach during mitosis and meiosis to pull chromatids apart.
•Types:
• Metacentric: Centromere is near the middle.
• Submetacentric: Centromere is slightly off-center.
• Acrocentric: Centromere is close to one end.
• Telocentric: Centromere is at the very end (not found in humans).
5. Chromatids:
Each chromosome consists of two identical sister chromatids, formed during DNA replication.
Chromatids are joined together at the centromere and are separated during cell division to ensure
each daughter cell receives an identical set of chromosomes.
6. Telomeres:
Telomeres are the protective caps at the ends of each chromosome.
They protect the ends of chromosomes from deterioration and prevent them from fusing
with other chromosomes. Telomeres shorten with each cell division, and their length is
associated with aging and cellular lifespan.
7. Arms of Chromosomes:
•P Arm: The shorter arm of the chromosome, designated as "p" (from "petite").
•Q Arm: The longer arm of the chromosome, designated as "q".
•Structure: The arms extend from the centromere to the telomeres at the ends.
8. Kinetochore:
A protein complex that forms on the centromere during cell division.
It is the attachment site for spindle fibers that pull the chromatids apart during mitosis and
meiosis.
9. Secondary Constriction:
Some chromosomes have a secondary constriction that is not the centromere.
Often associated with the formation of nucleolar organizer regions (NORs), which are
involved in the synthesis of ribosomal RNA.
10. Satellite:
A small, distinct segment separated from the main body of the chromosome by the
secondary constriction. It often contains genes important for ribosomal RNA synthesis
 XAR (X-Added Region):
The XAR is found on the short arm (p arm) of the X chromosome.
This region is thought to have been added to the X chromosome during the evolution of
mammals, hence the name "X-added."
The XAR contains genes that are relatively unique to the X chromosome and are not
shared with the Y chromosome. These genes can play various roles in development and
cellular function.
Some genes in this region are involved in female-specific functions or in processes that
require dosage compensation, which is the mechanism that balances the expression of X-
linked genes between males (with one X chromosome) and females (with two X
chromosomes).
 XCR (X-Conserved Region):
The XCR is found on the long arm (q arm) of the X chromosome.
This region is considered to be conserved across different species, meaning it has
remained relatively unchanged throughout evolution. The genes in the XCR are ancient
and are shared with other species, including non-mammals.
The XCR contains genes that are conserved and essential for basic cellular functions.
These genes are often expressed in both sexes, and many of them have homologs on the
Y chromosome (in the form of similar genes that are present on both sex chromosomes).
The conserved nature of this region means that the genes here are crucial for
fundamental biological processes, such as cell division, DNA repair, and metabolism.
SEX CHROMOSOMES &SEX
DETERMINATION
 Sex chromosomes are a type of chromosome involved in
determining the sex of an organism. In many species, including
humans, there are two types of sex chromosomes: X and Y.
• Females typically have two X chromosomes (XX).
• Males usually have one X and one Y chromosome (XY).
How They Work ?

•X Chromosome: Contains numerous genes essential for

various biological functions, including some unrelated to
sex determination

•Y Chromosome: Smaller and contains fewer genes, many

of which are involved in male sex determination and sperm
production.
 Sex determination in
animals
 1. Genetic Sex Determination (GSD)
• XX/XY System: Common in mammals, where typically, XX
individuals are female and XY individuals are male. The presence
of the Y chromosome usually determines male development.
• ZZ/ZW System: Found in birds, some reptiles, and some fish. In
this system, males are ZZ (homogametic) and females are ZW
(heterogametic). The W chromosome typically determines female
development.
• XX/X0 System: Found in some insects, such as grasshoppers.
Males have only one X chromosome (X0), while females have two
(XX).
The word “sex” is derived from the Latin word “sexus” means sections. The
sexually reproducing organisms are classified into two types viz, monoecious
(hermaphrodite) and dioecious. In monoecious organisms, both male and female
gametes (sex cells) are produced by a single individual. The organisms in which
both male and female gametes are produced by different individuals are called
dioecious. The sex cells and reproductive organs form the primary sexual
characters of both sexes. Besides this, male and female sexes differ from each
other in many somatic characters known as secondary sexual characters. The
phenomenon of molecular, morphological physiological or behavioral
differentiation between male and female sexes is called sexual dimorphism. Sex
determination is recognized as a process in which signals are initiated for male or
female developmental patterns. During sex differentiation, events occur in definite
pathways leading to the development of male and female phenotypes and
secondary sexual characters. Significant progress has been made in understanding
the mechanism of sex in human beings and other mammals and new genes have
been identified.
Chromosome Theory of Sex Determination:
 Sex determination in higher animals is controlled by the action of one or more
genes. The testis determining factor (TDF) gene is the dominant sex
determining factor in human beings. Hemking a German biologist identified a
particular nuclear structure throughout the spermatogenesis in of squash bug,
Pyrrhocoris. He named it as “X-body” and showed that sperm differed by its
presence or absence. After three years, Miss Steven and Wilson succeeded in
understanding oogenesis and spermatogenesis in Protenor bugs. The X body
was later found to be a chromosome that determined sex. It was identified in
several insects and is known as the sex or X chromosome. In males, all the
chromosomes are paired, but the chromosome analogues to X chromosome is
smaller and is called as Y chromosome. Thus, the chromosome theory of sex
determination states that female and male individuals differ in their
chromosomes. In majority of sexually reproducing animals two types of
chromosomes are found:
(i) Autosomes: The chromosomes which have no relation with sex and
contain the genes which determine the somatic characters of the
individuals are called as autosomes (A). They are found in all cells. The
two members of this pair are similar in shape, ie, homologous pair
(homomorphic). (ii) Sex Chromosomes or Allosomes: The chromosomes
which carry genes for sex determination are called allosomes. A pair of
them determines the sex. They are variously named as X and Y
chromosomes (Man and Drosophila), Z and W chromosomes (Birds and
Moth), odd chromosomes, idiosoines, heterosomes or allosomes. The
two members of this pair are often dissimilar in male and are
represented as X and Y chromosomes or as Z and W chromosomes.
Types of chromosomal mechanisms of sex determination In dioecious diploidic organisms following two
systems of sex chromosomal mechanisms of sex determination have been recognized
1. Heterogametic male In this type of sex determination female has two X chromosomes, hence
produces similar type of gametes and called as homogametic sex, But male has only one X chromosomes,
hence during gametogenesis it produces two types of gametes, 50% gamete carry X chromosomes while
rest either lacks X chromosomes (XO) or has a Y chromosome (XY)
a. XX Female - XO Male Type: Mc Clung and Wilson described this type of sex mechanism in insects
especially grasshopper. In male there is no mate for X chromosome, hence the name Xo is given, there is
no Y chromosome They produce sperm of two types, 50% with X chromosome and 50% without X.
b. XX Female - XY Male Types: This type of sex mechanism is found in
Drosophila (fruitfly) and majority of mammals including man. In this type
the female is homogametic (XX) and male is heterogametic (XY)
consisting of two dissimilar chromosomes X and Y. The females produce
ova all of one type having X chromosome (homogametic. Males produce
two types of sperms: -50% with X-chromosome and remaining 50% with
Y-chromosome. Thus, the sex chromosomes in female are homomorphic
and those of male are heteromorphic or heterogametic
2. Heterogametic females
In this type of sex chromosomal sex determination, the male possess two
homomorphic X chromosomes, thus is homogametic and produces gametes
with a single X chromosome. The female either, has only one X
chromosomes, or has one X and one Y, hence during gametogenesis it
produces two types of gametes, 50% gamete carry X chromosomes while
rest either lacks X chromosomes or has a Y chromosome. To avoid confusion
with that of XX-XO and XX-XY methods of sex determination, instead of X
and Y Z and W alphabets are used respectively.

a. ZO Female -ZZ Male Type

This system of sex determination is found in moths and butterflies. Feale
hence ZO and is heterogametic producing 50 % gametes with Z and 50 %
without Z. Males possess two Z chromosomes hence homogametic and
produces single types of gametes(with Z chromosome) and are called as
homogametic. The sex of offspring depends on egg as shown below :
b. ZW Female - ZZ Male Type In certain insects, fishes , reptiles and
birds, the female is heterogametic; having dissimilar Z and W
chromosomes, whereas the male is homogametic having similar ZZ
chromosomes (It is a convention to designate female as ZW instead of
XY and male as ZZ instead of XX). The situation here is just reverse to
first type.
2. Environmental Sex Determination (ESD)
•Temperature-Dependent Sex Determination (TSD): In some reptiles like
crocodiles and turtles, the temperature at which eggs are incubated determines
the sex of the offspring. For example, in many turtle species, cooler
temperatures tend to produce males, while warmer temperatures produce
females.
•Social Environment: In some fish species, such as clownfish, individuals can
change sex based on the social structure. For example, if a dominant female
dies, the largest male may change sex to become the female.
•Location-Dependent: Some marine invertebrates, like the slipper limpet,
determine their sex based on their position in a stack of individuals.

3. Haplodiploidy
•Found in some insects, such as bees, ants, and wasps. Females are diploid
(have two sets of chromosomes), and males are haploid (have one set of
chromosomes). Males develop from unfertilized eggs, while females develop
from fertilized eggs.
4. Hermaphroditism
•Simultaneous Hermaphroditism: An individual has both male and female
reproductive organs at the same time. Examples include earthworms and some
snails.

•Sequential Hermaphroditism: Individuals start life as one sex and change to

another later. This can be further divided into:
• Protandry: Individuals start as males and change to females, as seen in
some fish like clownfish.
• Protogyny: Individuals start as females and change to males, as seen in
some wrasses.
5. Parthenogenesis
•A form of asexual reproduction where females produce offspring without
fertilization by a male. This can result in offspring that are clones of the mother or
have some genetic variation. It's observed in some reptiles, fish, and insects.

6. Sex Chromosome Aneuploidy

•Sometimes, abnormalities in the number of sex chromosomes can lead to
variations in sex determination, such as in humans with conditions like Turner
syndrome (X0) or Klinefelter syndrome (XXY).
 Sex determination in honey bees
 Haplodiploidy in Honey Bees
• Females (Workers and Queens):
• Female honey bees, which include both the workers and the queen, are diploid.
This means they have two sets of chromosomes, one from each parent.
• Female bees develop from fertilized eggs. The queen mates with multiple males
(drones) and stores their sperm, using it to fertilize the eggs. The fertilized eggs
then develop into females.
• Males (Drones):
• Male honey bees, known as drones, are haploid. This means they have only one
set of chromosomes.
• Drones develop from unfertilized eggs. The queen can lay unfertilized eggs,
which then develop into males without any genetic contribution from a father.
Since they are haploid, drones only have the genetic material from their mother.
In male honeybees (drones), sperm formation occurs through a process called mitosis,
rather than the typical meiosis seen in other animals. This is because male honeybees are
haploid, meaning they have only one set of chromosomes. Here's an overview of the
process:

 Haploid Drones:

Unlike most animals, where sperm cells are produced through meiosis (which reduces the
chromosome number by half), male honeybees develop from unfertilized eggs and are
haploid from the start. This means their cells contain just one set of chromosomes.

 Mitosis in Spermatogenesis:

In drones, sperm cells are produced through mitosis. The germ cells in the testes of the
drone undergo mitosis to produce genetically identical sperm cells. Since the drone is
already haploid, mitosis does not change the chromosome number.
 No Genetic Variation:

Because mitosis produces genetically identical cells, all the sperm produced by a
drone are genetically identical to each other and to the drone itself.

 Sperm Production:

The produced sperm cells are stored in the drone's seminal vesicles, ready to be
transferred to a queen during mating.

This process is quite different from what occurs in diploid organisms, where meiosis
ensures genetic diversity in the sperm cells. In drones, the lack of meiosis means
there is no recombination or independent assortment of chromosomes, resulting in
uniform sperm cells.
Genetic Basis of Sex Determination
•The specific mechanism of sex determination in honey bees is controlled by a single
locus known as the complementary sex determiner (CSD) gene.
• Heterozygous individuals (those with two different alleles at the CSD gene
locus) develop as females.
• Homozygous individuals (those with two identical alleles at the CSD locus)
typically do not survive, as they develop into non-viable diploid males, which
are usually eaten by the worker bees.
• Haploid individuals (which have only one allele at the CSD locus) develop as
males.
Significance of Haplodiploidy
•This system of sex determination has important implications for the social
structure and reproductive strategy of honey bees.
• Queen Bee: The queen is the sole egg-laying female in the colony and can
control the sex of her offspring by choosing whether to fertilize the eggs
she lays.
• Worker Bees: Workers are sterile females who help maintain the hive,
care for the young, and protect the colony.
• Drones: Drones exist solely to mate with queens from other colonies. They
do not contribute to foraging or other hive activities and die shortly after
mating.
 Sex determination in Drosophila
melanogaster
 1. X-to-Autosome Ratio
• Drosophila sex determination is not solely dependent on the presence of specific sex
chromosomes like in mammals (XX/XY), but rather on the ratio of X chromosomes to
sets of autosomes.
• X Ratio:
• 1:1 Ratio (Two X chromosomes, two sets of autosomes): This results in a
female fly. Genotype: XX.
• 0.5:1 Ratio (One X chromosome, two sets of autosomes): This results in a
male fly. Genotype: XY or X0.
• 0.67:1 Ratio (One and a half X chromosomes, two sets of autosomes):
This results in an intersex fly with characteristics of both sexes. Genotype: XXY.
• 2:1 Ratio (Two X chromosomes, one set of autosomes): This can result in a
metafemale, which is usually non-viable. Genotype: XXAA.
2. Key Genes Involved
•Sex-lethal (Sxl): This is the master regulatory gene that controls sex
determination in Drosophila.
• In females (with an X ratio of 1.0), Sxl is activated early in development,
leading to the splicing of transcripts that produce functional Sxl protein. This
protein regulates the splicing of other key genes involved in female
development.
• In males (with an X ratio of 0.5), Sxl is not activated, resulting in the
absence of functional Sxl protein, which leads to male development.

•Transformer (tra) and Doublesex (dsx):

• In females, Sxl activates another gene called transformer (tra), which in
turn regulates the splicing of doublesex (dsx) to produce a female-specific
DSX protein. This protein promotes female differentiation.
• In males, because Sxl is inactive, the tra gene is not activated, leading to a
different splicing of dsx that produces a male-specific DSX protein,
promoting male differentiation.
3. Y Chromosome
•The Y chromosome in Drosophila does not determine maleness as it does in
mammals. Instead, it carries genes necessary for male fertility but is not involved in
the primary sex determination mechanism.

4. Mutations and Variations

•Mutations in the Sxl gene can lead to sex reversal or intersex conditions in flies,
depending on how they affect the splicing and expression of downstream genes.