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Human Chromosomes

During resting stage of the cell (interphase) the chromosomes are


not visible because the material from which they are made is scattered
throughout the nucleus, it's called Chromatin, because of its deep color-
staining character. Chromatin includes all the substances in the nucleus,
that stained with basic stain or selective staining of DNA.

The chromatin composed of DNA and histone ( is nucleoprotein)


DNA is the carrier of the genetic code by which hereditary information is
passed from generation to generation. 50% of eukaryotic chromosome is
histone of 2 types:

1- Nonhistones: are acidic (have negatively charged R groups) and


are loosely associated with DNA. The functions of the nonhistone
are regulator of gene activity.
2- Histone: are basic (have positively charged R groups) , bind
strongly to the DNA and there are 5 types of histone H1, H2A,
H2B, H3 and H4 found in all tissues of an organism. This
similarity suggests that mutations in the histone have been located
against during the evolutionary process and that the histones
therefore have very important function which are responsible for
packaging the DNA into a nucleus.

When the chromatin lightly staining form seen, its genetically


"active" sending out information to the cytoplasm to control the complex
processes of the cell. This dispersed-form of chromatin is called
"euchromatin".

When the cell divides, the euchromatin concentrates into" inactive" state
to form "Chromosomes" in which DNA is more resistant to damage
during the processes of nuclear and cell division. Chromosome \appear as
dense darkly staining bodies when the nucleus is treated with various
stains.

Some Chromatin remains permanently condensed and deeply


staining during interphase and is termed "Heterochromatin"as:

1- In female mammals, where one of X-sex chromosomes remains


permanently condensed as a "Barr Body" (inactive x chromosome is
visible microscopically as a dense clump of heterochromatin just inside
the nuclear envelope of cells of female mammals. Barr body play very
important in the function of x-chromosome in mammals)
2- In the mature mammalian spermatozoan where all the chromatin is
heterochromatin and the DNA is protected for its passage to the
fertilization of the female gamete.

Chromosome functions
Chromosomes in mammals have two main functions:
a-Perpetuating the hereditary material during an individual's
development.
b-To shuffle and move that material through successive generations.
There are three sequence elements of DNA responsible for the
biological functions of eukaryotic chromosomes (Fig.4):

Centromeres: These are a DNA elements responsible for segregating the


chromosomes at mitosis and meiosis. If chromosomal segments lack a
centromere , they will not become attached to the spindle so will fail to be
included in the subsequent formation of daughter cells.

Kinetochore: a specialized structure composed of DNA and proteins that


forms at each centromere and serves as the attachment point for the
chromosomes to the spindle fibers.
Telomeres: These seal the ends of the chromosomes and their functions
are:
a- provide chromosome stability and maintain the structural integrity of
the chromosome.
b- ensure complete replication of the extreme ends of chromosome
termini.
c- play a role in establishing the three-dimensional structure of the
nucleus and chromosome pairing.

Chromosome number
Chromosome number and structure vary between species. Bacterial
cells typically have a single, small ,circular chromosome in their cell
cytoplasm attached to the cell wall, but eukaryotes have several, large,
linear chromosomes in their cell nuclei.
The chromosome number and DNA content in a complex
eukaryotic organism can also vary, for example the gametes (sperm and
egg cells) of sex cells mammals which contains half the number of
chromosomes (haploid n) of the somatic cells in the ovary and testis
(diploid 2n) from meiosis which serves to reduce the chromosome
number by half.

Somatic cell contains pairs of chromosomes(diploid 2n)because all


body cells are found from original zygote which receives one set of
chromosomes from the egg (material parent )and a comparable set of
chromosomes from the sperm(paternal parent). The number of
chromosomes in each somatic cell is the same of all members of a given
species.

The Structure and Function of Genetic materials


Genes or the inherited “factors” are located along the length of
chromosomes and the position of these genes called the locus. Gene that
are at the same locus on a pair of homologous chromosomes are called
alleles or allele pairs, which these paired genes that determine the
physical traits called phenotype. If the genes in the allele pair are
different Tt it called heterozygous condition. If the genes in the allele pair
are similar tt it called homozygous condition.
The structure of genetic materials
Genes are made up of nucleotides in the nucleic acid called DNA
(deoxyribonucleic acid) and RNA (ribonucleic acid). These nucleic
acid are important in:
• Release and storage energy.
• Determination and transmission of genetic characteristics.
These DNA and RNA are polynucleotides that consist of units
called nucleotides, each of these components being composed of:
A sugar + A phosphate group + A nitrogen containing portion
(Figure 1).
1- A sugar: contained 5 carbons ribose (as in RNA) or when lacking in
C2 an oxygen atom called deoxyribose (as in DNA).
2- A phosphate group: is acidic which attached to the sugar in C5.
3- A nitrogen - containing portion: (nitrogen base) which is the more
variable components of the nucleotides, contains one carbon –
nitrogen ring are called pyrimidines or two – carbon ring bases are
called purines. In DNA, the two main pyrimidines are cytosine (C) +
thymine (T). In RNA, carries cytosine (C) + urucil (U). The two main
purines adenine (A) + guanine (G) are found in both DNA and RNA .

Figure (1) Structure of nucleic acid: a nucleotide

Deoxyribonucleic acid “DNA”


DNA are found in the chromosomes of the nucleus, the
mitochondria of animal cells and in the chloroplasts of plant cells (Figure
2). The genetic inform is stored in DNA which in turn used to synthesize
RNA molecules using sequences of DNA as templates (transcription),
which allows the synthesis of protein polypeptides using RNA molecules
as templates (translation). Characteristics of DNA are:
1- Store and transmit genetic information to control the synthesis of
protein and enzymes within the cell.
2- Able to self-replication.
3- Located in chromosome.
4- Show a low level of mutation.

Figure (2) The chemical make-up of DNA

Watson and Crick’s DNA Model


In 1953, Watson and Crick proposed a double – helix structure for
DNA, which became the accepted structure model (Figure 3), according
to their proposal the DNA molecule was:
1- A two – stranded, double – helix structure.
2- The two strands complement each other .
3- The DNA strands are held together by weak hydrogen bonds in a
DNA duplex A=T, C≡G.
4- Each turn of the DNA helix has a pitch of 3.4nm, which
accommodates 10 nucleotides.
5- One end of each DNA strand called 5` end, will not be linked to a
neighboring sugar residue. The other end will be defined as the 3` end
for the same reason.
6- The phosphodiester bonds links the carbon atoms, 3` and 5` of
successive sugar resides.
7- The two strands of DNA are oriented in opposite direction. The
direction of one strand 5`→3` from top→botton, while the direction of
the other strand 3`→5` from bottom to top. This opposite polarity of
the complementary strands of DNA play an important role in DNA
replication, transcription and recombination (Figure 3).

Figure (3) The opposite polarity of the two strands of a DNA double helix
Ribonucleic acid “RNA”
RNA found in cells nuclei and in the cytoplasm
there are four types of RNA:
1- mRNA: an intermediate trait carry genetic information from DNA to
the ribosomes where proteins are synthesized.
2- rRNA: is a structural components of the ribosomes.
3- tRNA: is a small RNA molecule that place specific amino acid to the
correct position in a growing polypeptide chain at ribosome (at A
site).
RNA differs from DNA molecules in this following ways:
DNA RNA
1. Genes controls protein Helpers of DNA
Function synthesis involves protein synthesis
2.
Deoxyribose Ribose
Sugar
3. A,G A,G
Bases T,C U,C
4.
Double – Stranded Single stranded
Strands
5.
Double helix Single strand
Helix
6.
Bigger (longer) Smaller (shorter)
Size
7. 4 types (mRNA,
One
Types rRNA, tRNA, snRNA)

Genetic code
The sequence of bases along the length of the DNA acts as a type
of code, each unit in the code is made up of 3 bases called Triplet code
or Genetic code. The number of nucleotides which code for amino acid
(a.a.) is termed a codon (3 nucleotides coding for one amino acid). The
important properties of the genetic code are:
1-It’s unambiguous or each triplet codon has only one meaning.
Examples: TTT codes for a.a. lysine this mean that sequence TTT in
DNA will instruct for lysine to be picked up of the cell’s a.a. pool, so on.
This type of instruction will continue along the length of a RNA, then the
a.a. coded for, will be joined up in a long chain to make a protein.
2- It’s has one start signal AUG and three stop signals UAA, UGA,
UAG.
3- It’s unique for all organisms.

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