Chromosomes

Dr Namrata Trivedi
Assistant Professor
Department of Anatomy
 Chromosomes served as a organised structure within the nucleus of
each cell, housing the cell’s genetic material in the form of DNA.
 Structure of Chromosomes
 Each chromosomes consists of DNA molecules tightly wound
around protein called histones, forming condensed and compact
structure.
 The primary components of chromosome include
 1. chromatids
 Chromatids are the two identical copies of DNA that make up a
replicated chromosome.
 They are held together at a region called the Centromere.
 2. Centromere
 The centromere is a specialized region of the chromosome where
the two chromatids are joins and where spindle fibers attached
during cell division.
 3. Telomeres
 Telomeres are protective caps located at the end of chromosomes.
 They play a critical role in maintaining chromosomal stability
and preventing degradation.
 4. Satellite
 Satellite regions are segment of DNA located near the
centromere.

 Each chromosomes consists of DNA, small amount of RNA ,

Proteins( Histone and Non-histone) and metallic ions.
 The DNA is the key constituents of the chromosomes. It is the
most essential and stable molecules.
 The histones are basic proteins which are aggregated as
spheroidal particles.
 The DNA strand is coiled around each particle to form a
nucleosome.
 The non –histones proteins are acidic and form many enzymes.
 Groups of chromosomes
 The chromosomes are arranged in descending order of length.
 The first pair is longest and the 22nd pair is shortest.
 Sex chromosomes are grouped separately.
 The chromosomes are divided into 7 groups. They are denoted as A
to G.
 Each cell contains fixed number of chromosomes which is
characteristics of that species or organism.
 In somatic cell of human, the number is 46, which is diploid
number.
 In gametes ex. Ovum and sperm it is 23, called haploid number.
 During fertilization, union of two haploid cells restores diploid
number of chromosomes.
 In each pair of chromosomes, one is inherited from mother and one
is from father.
 The normal female has two X chromosomes(xx) in each somatic
cell, where as a normal male has one X and one Y chromosomes
(XY) in each somatic cell.
 Types Of Chromosomes
 Chromosomes can be classified into several types based on their
structure and the position of the centromere.
 Sub metacentric chromosomes.
 These chromosomes have a centromere that is slightly off centre,
resulting in one long arm (q) and one short arm (p).
 Acrocentric chromosomes
 Acrocentric chromosomes have centromere located close to one
end, resulting in a long arm and a very short arm with a stalk like
structure known as the satellite.
 Ex. Chromosomes 13, 14, 15, 21,and 22 in humans.
 Telocentric chromosome
 Telocentric chromosomes have their centromere located at one end,
resulting in only one chromosomes arm.
 They are relatively rare in mammals but are more common in plants
and some other organisms.
 Metacentric Chromosomes
 Metacentric chromosomes have a centrally located centromere
resulting in two chromosome arms of approximately equal length.
 Chromosomes also can be categorized according to their functions:
 Autosomes
 These are 22 pairs of autosomes in human, which are responsible for
encoding most of the genetic information unrelated to determining an
individual sex.
Sex chromosomes
 One pair of chromosomes, known as the sex
chromosomes, determining an individual’s
sex:
 In male: XY chromosomes
 In female: XX chromosomes.
 Barr Bodies
 Barr bodies are the result of one of the X chromosomes in a
female somatic cell bring rendered inactive through a process
known as X- inactivation.
 This phenomena is crucial for balancing the gene dosages
between males and females, as females have a two X
chromosomes while male have one.
 In female embryo at a particular stage of embryogenesis (usually
at the blastocyst stage) , one of the X chromosomes is inactivated
on a random basis.
 X Inactivation
 The concept of X inactivation was first described by British
geneticist Mary F Lyon.
 To maintain an appropriate level of X- chromosome gene expression
in both male and females, one of the two X chromosomes in female
cell is randomly inactivated.
 This process ensure that both sexes have an equivalent X-
Chromosome gene expression.
 The active X chromosomes surrounded by euchromatin, which is
accessible for transcription, while the inactive X chromosomes is
enveloped by hetrochromatin, which is more compact and
transcriptionally inactive. This compressed dense structure is known
as the Barr body.
 Formation of Barr Bodies
 During X – inactivation, one X chromosome in each cell is
randomly chosen to be inactivated, and this inactive state is
maintained throughout the life of the cell.
 Consequently, in cells with more than one X chromosomes, the
number of Barr body is always less than the total number of X
chromosomes.
 Functions of Barr Bodies
 The presence of barr bodies is significant for detecting certain
physiological abnormalities.
 Barr bodies can be observed in the lobes of neutrophils in female
cells, and this detection is very helpful in identifying genetic
anomalies.
 Lyon’s Hypothesis
 According to this hypothesis the number of barr bodies in a cells
is equal to the total number of X Chromosomes minus one.
 It is also known as n-1 rule, where n represent the number of X
chromosomes in the cell.
 Mary lyon’s hypothesis include following key points:
 In female mammals, one of the two X chromosomes in each
somatic cell is inactivated.
 The inactivation process is randomly selected.
 X- inactivation happens during early embryonic development.
 The inactive X chromosome remains inactive throughout the
cell’s lineage.
 karyotyping
 It is a process of arranging the chromosomes of a cell in order to
study the complete chromosomal complements of an individual.
 First, an enlarged photomicrograph of a chromosomal spread is
taken from a stained slide.
 Then individual chromosomes are cut out from the photograph,
the homologous chromosomes are paired and are arranged in a
sequence.
 The longest chromosomes are placed at the beginning and the
shortest at the end. This arrangement of chromosome is called
karyotype.
 According to Denver system of classification, the chromosomes
including sex chromosome are arranged into seven groups
depending upon their;
 Size
 Position of centromere
 Length – ratio between their arms
 Presence of satellite bodies on their arms.
 These groups are referred to by the capital latter A to G.
 Clinical Correlation
 The karyotyping is of clinical significance for, one can identify
the structural and numerical variation in chromosomes.
 Chromosomal bending pattern, one can note certain abnormality
such as deletion, translocation of specific regions of
chromosomes.
 Chromosomal Aberrations

 Chromosomal aberrations involve changes in the structural

components or number of chromosomes, leading to genetic
disorder.
 Disease due to autosomal numerical chromosomal
aberrations:
 Down Syndrome
 Edward syndrome
 Patau syndrome
 Disease due to autosomal structural chromosomal aberrations:
 Turner’s Syndromne
 Cri-du-chat syndrome
 Klinfelter syndrome
 single cell inherited disease:
 Autosomal dominant inheritance
 Autosomal recessive inheritance
 X- linked dominant conditions.
 X- linked recessive traits.