The Structure and Function of

the Chromosome
 The Design of Chromosomes
• Each strand is called a
chromatid
• Since the two chromatids in a
chromosome contain
identical genes or genetic
information, they are also
referred to as sister
chromatids
 The Design of Chromosomes
• The sister chromatids
are joined together
by a centromere.
• Each sister chromatid
is made up of
– Basic proteins called
histones
– Nucleic acid called
deoxyribonucleic acid
(DNA)
The Organization of Chromosomes
• DNA has two
grooves:
– Major
– Minor

• Made up of
the elements
H, O, N, C,
and P

• Shape:
double helix
The Organization of Chromosomes
 The Organization of Chromosomes
• The building units of nucleic acid
molecules is called a nucleotide.
• Each nucleotide is made up of:
– Nitrogenous base
• Purine: Guanine (G), Adenine (A)
• Pyrimidine: Cytosine (C), Thymine (T)
– Five-carbon sugar called: deoxyribose
– Phosphate group

Nucleic acid
 The Organization of Chromosomes
Purine and Pyrimidine
• Purine molecules
are relatively bigger
than pyrimidine
molecules
• Complimentary
base paring:
purine to pyrimidine
A=T (double bond)
C≡G (triple bond)
The Organization of Chromosomes
The Organization of Chromosomes

A strand of DNA is organized into a chromosome

through a series of coiling.
The Organization of Chromosomes
Nucleosome

It is composed of:
• 8 histone proteins
• linker DNA
• histone H1
The Organization of Chromosomes

Series of coiled DNA – nucleosome

The Organization of Chromosomes

The nucleosome is further coiled into solenoid.

The Organization of Chromosomes
• The solenoid defines the packing
of DNA as a 30 nm fiber of
chromatin (less condensed form
of chromosome) and results from
the helical winding of at least five
nucleosome strands.
The Organization of Chromosomes
Nucleosome

Solenoid

Chromatin

Chromatid

Chromosome
The Organization of Chromosomes
 DNA and Genes
• DNA
– is a biomolecule that carries the genetic
instructions used in growth, development,
functioning and reproduction of all organisms.

• Gene
– is a specific DNA sequence or locus (or region) of
DNA that encodes a functional protein product
and is the molecular unit of heredity.
– it is the factor which controls the inheritance of a
character.
 Gene in terms of its structure
Gene
• is a portion (or region
called locus) of a DNA
molecule that is
responsible for the
Locus (region in the chromosome)
transmission of a trait [loci – plural]

from parents to offspring

 Gene
• The genes that control the inheritance and
expression of particular characteristics occupy
specific positions or loci (singular: locus) along
the length of the chromosome.
• On the average, a gene, which is a short
segment of DNA, could be 3000 base pairs
long.
• A complete set of chromosomes in a human
cell contains around 3.2 billion nitrogenous
base pairs.
 Genes and Heredity
The Role of Genes in Heredity

• DNA is the blueprint of heredity.

• It has the code of instructions for the
expression of inherited characters.
• It keeps record of clues about our genetic
history.
• It provides the molecular basis of heredity, as
life continues from one generation to the
next.
• The genetic information, therefore, is stored
in short portions of DNA called genes.
 Genes and Heredity
The Role of Genes in Heredity

• Some genes provide instructions for the:

– production of building blocks of the body such
as keratin in hair and skin
– production of melanin that gives brown color
to skin, eyes and hair, amylase for starch
digestion or hormones like insulin for
regulation of blood sugar
– synthesis of hemoglobin in red blood cells
involved in the transport of oxygen and
carbon dioxide in the body
 Genes and Heredity
The Role of Genes in Heredity
• Hence, genes form the basis of expression of
inherited characters, both in structure and
function.
• The kind of gene products our cells
manufacture tells what parts our bodies
should be made of and what our body parts
can do.
• Since genes are inherited, it is not surprising
that parents and offspring resemble each
other in many ways, both in form and
function.
Chromosome Distribution and Mitosis
Mitosis
• is the division of the nucleus, with its contents
(duplicated chromosomes), into two identical
nuclei...
– thus the number of chromosomes of the parent cell is
the same with the two identical daughter cells
• it involves cytokinesis (division of cytoplasm) into
two identical daughter cells
• responsible for generating new cells
Mitosis
 Meiosis: Introduction
• In humans, each body (somatic) cell contains two sets of
chromosomes, with 23 chromosomes in each set.
• Each of the 23 pairs is called homologous pair.
• One set comes from each parent cell.
• A cell that contains two complete sets or homologous pairs
of chromosomes is called a diploid cell.
• The number of chromosomes in a diploid cell is called
diploid number, represented by 2N.
• Each organism has a constant diploid number of
chromosomes in their body cells.
• The human gametes (egg and sperm cell) contain only half
the number of chromosomes...
because the haploid gametes will meet and generate a
diploid cell.
 Meiosis: Introduction
• A cell containing a single set of chromosomes
is called a haploid cell.
• Human gametes have a haploid number (N) of
23.
• Thus in sexual reproduction, a haploid sperm
cell from the father fuses with the haploid egg
cell from the mother.
• This process is called fertilization; it results in
a fertilized egg, called zygote, which is diploid.
 Meiosis: Introduction
• Mitosis ensures that all somatic cells receive
exact copies of all the zygote’s 46
chromosomes.
• Gametes, however, cannot undergo mitosis
since this would double their number of
chromosomes after each cycle of cell division.
• Haploid gametes are produced by a special
type of cell division called meiosis which
occurs only in the reproductive organs.
Chromosome Distribution and Meiosis
• Meiosis results in daughter cells having half the
number of chromosomes (haploid number) of the
parent cell.
• The resulting daughter cells in meiosis are not all
alike i.e. they do not have the same copies of
chromosomes.
• In mitosis, a parent cell produces two daughter
cells while in meiosis, a parent cell divides twice
(Meiosis I and II) producing four daughter cells.
• Mitosis occurs in all body cells while meiosis
occurs only in reproductive cells of ovaries and
testes.
Meiosis
Genetic
Diversity at
Prophase I

Synapsis
- pairing of
homologous
chromosome
to form a
tetrad

Crossing-over
- chromatids of
homologous
chromosomes
exchange
segments
resulting in
exchange of
genes
Meiosis
Meiosis II
is essentially
the same as
mitosis.

It also consists
of prophase,
metaphase,
anaphase,
telophase,
and
cytokinesis.

The only
difference is
that Meiosis II
starts with
haploid cells.

At the end of
this process...
 Karyotyping
Karyotype
• It is the number and appearance of chromosomes in
the nucleus of a eukaryotic cell (cell with nucleus).
• The term is also used for the complete set of
chromosomes in a species, or an individual organism.
Karyotyping
• It is a test to examine chromosomes in a sample of
cells.
• This test can help identify genetic problems as the
cause of a disorder or disease.
Example of a Karyotype
 Genetic Disorders and Chromosome
Numbers
• Some genetic disorders are caused by chromosomal abberation i.e.
abnormality in the number of chromosomes in humans
• Some examples are:
1) Klinefelter Syndrome – where boys and men are born with an extra
X chromosome
2) Turner's Syndrome – when one of the X chromosomes is missing or
partially missing
3) Prader-Willi Syndrome – genetic change in chromosome number 15
4) Angelman Syndrome – absence of certain genes normally present
on the copy of chromosome 15 inherited from the mother
5) Down Syndrome – has 3 copies of chromosome 21, trisomy 21
6) Edwards Syndrome – has 3 copies of chromosome number 18
instead of 2
7) Patau Syndrome – having additional copy of chromosome 13 in
some or all of the body’s cell, trisomy 13
 Research Work Presentation
• Discuss the following genetic disorders that are
caused by chromosomal aberrations.
1) Klinefelter Syndrome
2) Turner's Syndrome
3) Prader-Willi Syndrome
4) Angelman Syndrome
5) Down Syndrome
6) Edwards Syndrome
7) Patau Syndrome
Show the karyotype of each syndrome and discuss its
description which include the signs and symptoms of
the said genetic disorder.