CHROMOSOME

MANZOOR SIR
 Manzoor sir

• Greek word “Chroma” means “colour” and “soma”

means “body” because these stain deeply with basic
dyes.
• First described by Strasburger, term coined by
Waldeyer.
INTRODUCTION: • Chromosomes represent physical basis of heredity
since these are the carriers of genes.
• Each chromosome is a single molecule of DNA that
represents a specific subset of information in the
genome.
• Each chromosome in fact represents a different
cookbook since each gene carried on it can be thought
of a different recipe.
 Manzoor sir

• It is a supra-molecule composed of two macro molecules such as

DNA (up to 40%) and proteins (up to 60 %) with traces of RNA.
CHROMOSOME • Chromatin represents extended state of this supra-molecule whereas
chromosome represents coiled state.
/CHROMATIN: • The chromosome (coiled state) appears only during cell divison
especially at metaphase and anaphase.
• It is the extended state i.e. chromatin which is normally present in
the nucleus of a cell.

EUCHROMATIN AND HETEROCHROMATIN :-
 Euchromatin:-
• Active chromatin i.e. undergoes transcription and
translation.
• Takes little stain, stains deeply at metaphase.
• Euchromatin comprises the most active portion of the
genome within the nucleus of a cell .
Manzoor sir
 Heterochromatin:-
• Inactive chromatin, the chromatin which does not
undergoes transcription and translation.
• Stains deeply at interphase.
• It may be:
 Obligate/ constitutive heterochromatin:-
• Inactivity is permanent.
• E.g.: most of “y” chromosome in human beings
(99.97%).
 Facultative heterochromatin:-
• Inactivity is temporary i.e.; such type of
chromatin because active at some stage in the
life cycle.
• E.g.: Centromeric DNA, Barr body in human
female.
 Manzoor sir

• Any of a pair of chromosomes in which one is paternal and other

is maternal and which carry genes at identical locations. Each
member of a homologous pair of chromosomes is called
homologue.
• Pair of such genes which are present at identical locations on 02
different chromosomes of a homologous pair are called alleles
or allelomorphs.
HOMOLOGUS • Pair of alleles therefore present 02 genes which have identical
location on a homologous pair of chromosome and are related
CHROMOSOMES: to each other structurally as well as functionally.
• Term allele was coined by “Bateson”.
• Thus homologous chromosomes are the chromosomes which
possess allelic genes.
• No. of homologous pairs of chromosomes in human female is 23
while as in human male it is 22 because “X” and “Y”
chromosomes in human male bear non allelic genes. Non allelic
genes are Hemizygous means genes present on Y chromosome
as well as X chromosomes in human beings are hemizygous.
 Manzoor sir

• DNA up to 40%.
• Protein’s 60%.
COMPOSITION: • RNA up to 10%(mostly rRNA)
• Proteins: these are of two types:
 Histones 80%.
 non Histones 20%.
 Manzoor sir

 Histones:-
• It is a basic class of proteins, completely devoid of an amino acid called
tryptophan.
• Highly heterogeneous and highly conserved class of proteins.
• DNA histone ratio is almost 1:1.
• These are of five types i.e. H1 , Ha2, Hb2 , H3, H4.
PROTEINS IN
• H1 lysine rich
CHROMOSOMES: • Ha2and Hb2 slightly lysine rich.
• H3 and H4 Arginine rich.
• Histones isolated from different organisms show a very high degree of
similarity in four of the five fractions (H2 a \ H2 b \ H3 \H4) indicating that these
have been highly conserved during evolution.
• There primary function is chromosome organisation.
 Manzoor sir

PROTEINS IN • Non histone proteins:-

• No definite ratio with DNA.
CHROMOSOMES • Do not represent a conserved class of proteins.
CONTINUED: • There number is 12 -20 and include proteins such as DNA-
Polymerases, RNA-polymerases, ligases, helicases, gyrases,
SSBP`s (single strand binding proteins) etc.
 Manzoor sir

• Chromosome morphology deals with the study of size, number,

CHROMOSOME shape and structure of chromosomes.
• Just before nuclear division, chromosomes form compact
MORPHOLOGY:- structures which are shorter, thicker and recognisable as
separate structures and which stain more intensely.
• Chromosomes exhibit many morphological features which
follows.
 Manzoor sir

• shortest at anaphase and Longest at interphase.

CHROMOSOME • Measurements are taken at metaphase because at this

stage chromosomes are highly visible.
SIZE:
• Smallest in fungi.
RANGE (0.5 TO 32µ)
• Largest in Trillium (30-32µ).

• Chromosomes are longer in plants than in animals.

• Among plants chromosomes are longer in monocots
than dicots.
 Manzoor sir

• It is a constant for each species.

• Lowest among animals is 2n = 2, in a nematode that is Parascaris
CHROMOSOME aquorum.

NUMBER:- • Lowest among plants is 2n = 4, in Haplopappus gracilis

(Asteraceae).
• Highest in plant kingdom is 2n = 1200, in a fern i.e.
Ophioglossum.
• Highest no. of chromosomes i.e. 2n =1600 in Aulocantha i.e. a
Radiolarian (protozoan).

 Some important examples:-
• Carrot 2n = 20.
IDEAL RANGE: • Barley/ pea /rye 2n = 14.
(12-50) • Tomato/rice 2n =24.
• Potato/tobacco 2n = 48.
• Honey 2n = 32.
• Dog/cat 2n = 78.
• Fruit fly 2n = 08.
Manzoor sir
• Horse 2n = 64.
• Housefly 2n =12.
• Rat 2n =42.
• Cattle 2n =60.
• Silkworm 2n =56.
• Pigeon 2n =80.
• Lowest no. is found in fungi
2n = 06-16.
 Manzoor sir

 Chromatids:
• Each metaphasic chromosome appears to be composed of two
identical copies called chromatid.
• In preparation for cell division, a cell must make a copy of its DNA in a
CHROMOSOME process known as replication.

STRUCTURE: • Replication yields two copies of every chromosome called chromatids.

• Replication does not produce more chromosomes, Rather it just
SISTER CHROMATIDS produces two copies of a given chromosome.
CENTROMERE
• Once replication is completed there are two chromatids associated with
each chromosome called sister chromatids, so named because they are
basically copies of the same chromosome.
 Manzoor sir

CENTROMERE:-
• It is a region in a chromosome at which chromatids
are attached.
CHROMOSOME • Also called 10 constriction means it must be
necessarily present if the chromosome have to
STRUCTURE behave normally during cell division.
• Also called kinetochore.
• Centromere is facultatively heterochromatic region
where the genes become active during cell
division.
 Manzoor sir

• Depending upon the location of centromere chromosomes

are of the following types:-
• Metacentric:-
• Centromere is present exactly at the centre, such chromosomes
appear “V” shaped at anaphase.
• Arm ratio in such chromosomes is always 1:1.
• Sub metacentric:-
CHROMOSOME • Centromere is acentric (away from centre), such chromosomes
will have a long arm and a short arm and also appear slightly ” V”
STRUCTURE: shaped or completely “J” shaped at anaphase.
• Acrocentric:-
• Centromere is sub terminal in position, such chromosomes
therefore have a very long arm and a very short arm.
• These appear slightly “ J” shaped or ” rod” shaped.
• Telocentric:-
• Centromere is terminal in position, such chromosome have only
one arm and appear always “rod” shape.
 Manzoor sir

CHROMOSOME STRUCTURE CONTINUED:

• Most chromosomes are monocentric except

Luzula, Ascaris, Megalocephla, Thyanta where
chromosomes are polycentric.
• Centromeric activity is localised except in
some insects which show diffuse centromeric
activity.
• Centromere consists of highly repetitive
sequences of DNA called satellite DNA (SAT-
DNA).

CHROMOSOME STRUCTURE CONTINUED:
Secondary constriction:
 It is a constriction which is present in addition to the
primary constriction. It can be:
 secondary constriction- I.
 secondary constriction- II.
Secondary constriction- I:
 This constriction is always sub terminal in position,
also called NOR that is “Nucleolar Organisers
Region”
 Each SC-1 represents a family of 40 rRNA genes.
 Presence of SC-1 cuts a small hemispherical structure
called SAT-lite. SAT means Sine Acid Thymo nucleinico
which in turn means “without DNA” because
chromosome on staining show a relative deficiency
of DNA in this region.
Manzoor sir
 In humans there are five SAT/NOR chromosomes,
also called NOC`s means nucleolus organising
chromosomes.
 SAT/NOC`s in humans are chromosome numbers
13, 14, 15, 21 and 22.
Secondary Constriction -II:
 When ever present it is always intercalary in
position.
 Unlike SC-1 which is a feature of all the species,
SC-II is not a feature of all the species but
whenever present in a particular chromosome of a
species, it is present in all the members of that
species in that chromosome.
 Its exact function is not known but acts as a marker
for the chromosome that carries it.
CHROMOSOME STRUCTURE CONTINUED:
Chromomere:
• These appear like beads and represent
highly condensed regions of chromatin
and are fairly visible during Pachytene
stage of meiosis-I.
• Among plants these are found in Maize
and among animals these are visible in
Drosophila and many Amphibians.
• The distribution of chromomeres is
highly characteristic and constant, the
patterns of their distribution being
different for different chromosomes,
except for homologous chromosomes
which posses identical pattern of
chromomeres. . composed of repetitive sequences of
Manzoor sir
Telomere:
• These refer to the ends of
chromosomes. These are required for
complete replication of chromosomes
besides form caps that protect
chromosomes from nucleases and
other destabilising agents.
• These are non-sticky hence prevent
chromosomes from fusing together.
• These are responsible for maintaining
structural identity and individuality of
chromosomes.
• The length of telomeres is associated
with aging process and also with some
cancerous growths.
• At molecular level telomeres are
DNA which is:
 3’TTGGGG5’ in Tetrahymena.
 3’TTTAGGG5’ in Arabidopsis.
 3’TTAGGG5’ in MAN.
 Manzoor sir

CHROMOSOME (DIAGRAMMATIC)
 Manzoor sir
Karyotype
• It is an individuals collection of chromosomes. It refers to a
IDIOGRAM / IDIOTYPE OF technique which aims at arranging the chromosomes of an
HUMANS individual in descending order of size.
• While preparing a Karyotype general morphology such as size,
shape, position of centromere and presence of secondary
constriction etc of Haploid chromosomal compliment is taken as
the basis.
• As a rule Karyotype is presented by arranging the chromosomes
of a somatic cell in a descending order of size keeping their
centromeres in a straight line thus the longest chromosome is
placed on the extreme left and smallest one on the extreme
right.
• Once karyotyping is complete, the diagram obtained is called
Idiogram. More the number of Metacentric chromosomes
more symmetrical is the Idiogram and vise versa.
• Symmetrical Idiogram indicates primitiveness where as
asymmetrical Idiograms indicates advanceness (Man).
• Each species has its characteristic Karyotype. In humans
Karyotypes are prepared from the cultures of Leucocytes and
are used to screen Individuals for chromosomal abnormalities.
 Manzoor sir
SPECIAL TYPES OF CHROMOSOMES:
• Polytene chromosomes :- (By E.G. Balbaini in 1881 from
salivary glands of Dipteran Flies)
• These are giant chromosomes characterised by the presence of
thousands of DNA strands formed as a result of Endo-
Reduplication. This process is characterised by repeated cycles of
DNA replication not followed by cell division, a process also called
Polyteny.
• At interphase these chromosomes show distinct dark and light
banding patterns the dark bands are darkly stained whereas light
bands/inter bands get lightly stained with nuclear stains.
• Dark bands contain more DNA and less RNA where as inter bands
contain more RNA and less DNA.
• The bands of polytene chromosomes become enlarged at certain
times to form swellings called puffs, a process called puffing.
• In the regions of puffs, the DNA uncoil and open out to form loops.
The puffs indicate site of gene expression and it is in these regions
many lateral loops are formed which appear as rings called Balbaini
rings. These rings are rich in DNA, RNA and a few protiens.
• The presence of these chromosomes is advantageous to the
organism because it provides for more copies of a gene thereby
making the organism more productive.
 Manzoor sir

SPECIAL TYPES OF CHROMOSOMES CONTINUED:

• Lampbrush chromosomes:- (by W . Flemming in 1882 from Salamander egg cells).
• This is another class of giant chromosomes, so named because it resembles the
brushes used to clean lamp chimneys in the past ( name lampbrush was given by
Ruckert).
• These are also called diplotene chromosomes because they are fairly visible during
diplotene stage of prophase-I of Meiosis-I.
• These chromosomes acquire their typical shape due to an active transcription of
many genes.
• These chromosomes are highly extended consisting of two sister chromatids. These
are present in the form of bivalents in which the maternal and paternal
chromosomes are held together by chiasmata.
• Each such chromosome has several chromomeres distributed over its length and
from each chromomere a pair of loops emerges in the opposite directions vertical
to the main chromosomal axis. The number of loops arising from a chromomere
may be 02 to 09 .
• Both the central axis and loop axis are composed of DNA and protiens.
• Lateral loops are active sites of RNA synthesis and may contain one or more
transcription units called transcriptons.
 Manzoor sir

LAMP BRUSH CHROMOSOMES CONTINUED

• Newly synthesized RNA molecules associate with protiens to

form RNP matrix i.e. Ribo nucleo protein matrix.
• Towards the end of the central axis small swellings can be
seen without loops, these are the Telomeres.
• Each bivalent somewhere at the centre also posses a loop less
swelling which represents the centromere.
• These chromosomes are up to 800µm long, hence represent
best research material for Cytological studies. These are also
used as a model to study transcription.
THANK YOU
“we two are like alleles of a chromosome, the attractive force keeps us together Because coincidence is more
than that of interference……Gene mapping between us is always zero centimorgan,
Coz we are together forever..”
Manzoor ahmad