Chromosome

Background
• 1842 – Karl Nagli observed rod like chromosomes in plant cells
• 1875 – Strasburger observed thread like structures during cell
division,
• 1878 - Walter Flemming used the term “chromatin”
• 1902 – Boveri and Sutton proposed the chromosomal theory of
inheritance.
• 1902 – Sutton proposed that during meiosis the homologous pair of
chromosomes consists of maternal and paternal chromosomes.
• Chromosome number: it is constant for one species but varies from
species to species.
• Morphology: Generally the plant chromosomes are larger than the
animal chromosomes. Monocots have larger chromosomes than
dicots.
• Shape: Shape of the chromosomes vary from time to time. During the
resting phase the chromosome appears as thread like structure.
During M – Phase the chromosomes become dense and condensed.
• Chromosome has the following parts:
(1) Centromere
(2) Chromatid
(3) Secondary constriction and satellite
(4) Telomere
(5) Chromomere
(6) Chromonema
(7) Matrix
• Satellite: A small fragment of chromosome
remains attached to rest of the body by a
thread of chromatin. Chromosomes having a
satellite are marker chromosomes and are
called SAT-chromosomes.
• Chromomeres are regions of tightly folded
DNA and are believed to correspond to the
units of genetic function in the
chromosomes.
Structure and regions recognized in chromosomes:
• Structurally, each chromosome is differentiated into three
parts: (a) Pellicle, (b) Matrix, (c) Chromonemata.
a) Pellicle: It is the outer envelope around the substance of
chromosome. It is very thin and is formed of achromatic
substances.
b) Matrix: It is the ground substance of chromosome which
contains the chromonemata. It is also formed of nongenic
materials.
c) Chromonemata: Embedded in the matrix of each
chromosome are two identical, spirally coiled threads, the
chromonemata. Each chromonemata consists of about 8
microfibrils, each of which is formed of a double helix of
DNA.
• Material of the Chromosomes:
• Depending on their staining properties with basic dyes (particularly the Feulgen
reagent), the following two types of chromatin may be distinguished in the
interphase nucleus.
1. Euchromatin
2. Heterochromatin
• Euchromatin: This region is less condensed, gene-rich, and more easily
transcribed. DNA is accessible and present in an open confrontation because of the
relaxed state of Nucleosome arrangements.
• Heterochromatin: This region is highly condensed, gene-poor, and
transcriptionally silent. It contains 2-3 times more DNA than euchromatin. Recently 2
kinds of heterochromatins have been identified, such as-
a) Constitutive: The structurally relevant and permanently very condensed
nucleosomal chromatin that surrounds the chromosomal centromeres,
b) Facultative: Euchromatic regions that become packaged into a compact
heterochromatic-like form in a developmentally regulated manner.
 Special types of Chromosome
Polytene Chromosome: Present in the salivary gland cells of the larvae of dipterian like
Drosophila.
• Unusually long and wide chromosomes which are called Polytene Chromosome.
• These chromosomes are about 100 to 200 times in size of the chromosomes in meiosis
and mitosis of the same species.
• Polytene Chromosomes become exceptionally giant-sized by a process, called
“endomitosis” in which, the salivary gland cells do not divide after the glands are
formed, but their chromosomes replicate in several times. It is also called
multistranded chromosomes.
• It contains alternating dark and light bands along their length.
• This chromosome also bear a enlarge area called “puff” which change its location
according to the developmental stages of larvae and indicates the changes in gene
activity and involves several processes eg. Formation of chromosomal loops, synthesis
of m-RNA etc.
Lampbrush chromosome:
• In diplotene stage of meiosis, the yolk-rich oocytes of vertebrates contain the nuclei with
many lampbrush-shaped chromosomes of exceptionally large sizes.
• This is the special kind of synapsed mid prophase or the Diplotene bivalent stage.
• A lampbrush chromosome contains a main axis, whose chromosomal fibre (DNA molecule)
gives out lateral loops throughout its length. The loop produces m-RNA molecules.
• In a mature egg, as the chromosome contracts the lateral loops disappear.
Chromatin organization and packing
The first level of packing
• The chromatin resembles the structure of the beads on
a string.
• Nucleosome is the basic structural and fundamental unit
of chromatin and is the simplest level of chromatin.
• Nucleosomes are bundled into 30-nanometer fibers,
which create densely packed chromatin.
• A nucleosome core particle consists of histone octamer
and 147 bp of DNA is wrapped around it without H1.
• Histones are classified into five families:
H1, H5 (linker histones), H2, H3, and H4
(core histones).
• Each histone octamer is composed of two
copies each of the histone proteins H2A,
H2B, H3, and H4.
• H1, in contrast to the other histones is not
the part of the core particle.
• H1 serves to restrict the DNA into place
and functions as a clamp around the
nucleosome-octamer.
The second level of packing
• 30 nm fiber nucleosome is found in both interphase chromatin and mitotic chromosomes.
• The H1 is important for the stabilization of the 30 nm structure. H1 binds to 20-22 bp of DNA,
where the DNA joins and leaves the octamer.
• The core particle and it’s associated H1 histone are altogether called as the chromatosome.
• Each chromatosome encloses about 167 bp of DNA (147bp around nucleosome+20bp bound
byH1).
• This configuration compacts the DNA by six times. The length of one loop of the DNA becomes
300nm.
The final level of packaging
• The final level of packaging is characterized by the 700 nm structure seen in the metaphase
chromosome. The 30-nm fibers are further folded to form large supercoiled loops or domains.
• On average, each loop encloses some 20-100kb of DNA and measures about 300nm in length.
• The 300nm loops are packed and folded to result a 250nm wide fiber.
• This results in metaphase-individual chromatids approximately 700nm in width.
Solenoid model:
• In this model, a linear array of nucleosomes are
coiled into a higher order left handed helix,
entitled as solenoid, with around six
nucleosomes per turn.
• The nucleosome DNA forms a superhelix of 6
nucleosomes per turn.
Helix model:
• In this model, nucleosomes are arranged in a
zigzag ribbon that twists or super coils.
• The 30-nm fiber is a compacted form of these
zigzag nucleosome arrays.
• The zigzag conformation requires the linker
DNA to pass through the central axis of the
fiber in a relatively straight form.
 Nuclear Scaffold
• This is represented by two classes of proteins Topoisomerase 2 and SMCs.
• Topoisomerase 2 is abundantly present in scaffold preparations as well as mitotic
chromosomes in purified forms.
• Topo 2 holds the DNA from the base of the loop to make sure that they are isolated
from one another topologically.
• The SMC class of proteins represents the abundant components of the nuclear scaffold.
• These proteins help in condensation of chromatids and hold the sister chromatids after
chromosomal duplication.
• SMC proteins are components of multiprotein complexes, such as condensin and
cohesin.
• These are essential for mitotic chromosome architecture, the regulation of sister
chromatid pairing, DNA repair and replication, and the regulation of gene expression.