Central Dogma of LIFE:

Cells are the fundamental structural and functional units of every known living organism. Instructions needed to
direct activities are contained within a DNA (deoxyribonucleic acid) sequence. DNA from all organisms is
made up of the same chemical units (bases) called adenine, thymine, guanine, and cytosine, abbreviated as A, T,
G, and C. In complementary DNA strands, A matches with T, and C with G, to form base pairs. The human
genome (total composition of genetic material within a cell) is packaged into larger units known as
chromosomes—physically separate molecules that range in length from about 50 to 250 million base pairs.
Human cells contain two sets of chromosomes, one set inherited from each parent. Each cell normally contains
23 pairs of chromosomes, which consist of 22 autosomes (numbered 1 through 22) and one pair of sex
chromosomes (XX or XY). However, sperm and ova normally contain half as much genetic material: only one
copy of each chromosome.

Cell Cycle

Most cells require much more time to grow and double their mass of proteins and organelles than they require
to replicate their DNA and divide. Partly to allow more time for growth, extra gap phases are inserted in most
cell cycles—a G1 phase between M phase and S phase and a G2 phase between S phase and mitosis. Thus, the
eucaryotic cell cycle is traditionally divided into four sequential phases: G1, S, G2, and M. G1, S, and G2
together are called interphase. In a typical human cell proliferating in culture, interphase might occupy 23 hours
of a 24 hour cycle, with 1 hour for M phase.
Chromosome Structure

Unambiguous chromosome identification depends on the use of various staining techniques. Staining is
responsible for the alternating dark and light bands on the chromosomes noted in Figure 11.1B. The most
routinely used technique stains the metaphase chromosomes with Giemsa (after using the enzyme trypsin to
digest proteins). Each chromosome pair stains with its own characteristic banding pattern. The bands (G bands)
correlate approximately with the DNA sequence underlying it: AT-rich areas stain darkly, GC-rich areas lightly.
An idealized picture of such a G-banded karyotype (called an ideogram). About 400 dark bands per haploid
genome are seen in this way.
There are several other staining techniques used for more specialized purposes. One, called Q-banding, stains
chromosomes with quinacrine mustard and views them fluorescently. The bright Q bands correspond almost
exactly with the dark bands seen with Giemsa. A second method, called R-banding, treats chromosomes in
such a way that the dark and light G bands are reversed.

Third, and most recent, as well as revolutionary, is the FISH (fluorescence in situ hybridization) technique.
FISH deploys DNA probes specific for each chromosome (or subchromosomal region or single locus). These
probes are fragments of DNA or RNA, usually 100–1,000 bases long, used to detect the presence of nucleotide
sequences that are complementary to the sequence in the probe. The probes are labeled with modified
nucleotides that fluoresce under particular conditions. By using different fluorochromes, a karyotype can be
“painted” as desired
Chromosome Morphology and Classification

There are two kinds of cell division: mitosis and meiosis. Mitosis is somatic cell division responsible for the
growth, proliferation and tissue differentiation of the body, whereas meiosis is responsible for the production of
gametes. Because mitotic cells are easy to obtain, morphological studies are generally based on mitotic
metaphase chromosomes. Chromosomes are not visible under a light microscope in non-dividing (interphase)
cells. As the cell begins to divide, the threadlike chromatin material in the nucleus begins to condense; in the
metaphase stage, the chromosomes are best recognizable.

A chromosome consists of two arms separated by a primary constriction called a centromere. The short
chromosome arm is designated as p (petite) and the long arm as q (one letter after p) (according to Paris
nomenclature). A centromere consists of several hundred kilobases of repetitive DNA and is responsible for
movement of chromosomes during cell division.

Each chromosome consists of two identical strands known as chromatids or sister chromatids, which are visible
after the s (synthetic) phase of cell cycle. Each of the two sister-chromatids contains a highly coiled double
helix of DNA and is joined at centromere.

The tip of each chromosome is called telomere. Telomeres are highly conserved and consist of repeated DNA
sequence TTAGGG. Telomeres maintain the structural integrity of chromosomes and help to distinguish the
chromosome ends from broken DNA by sealing the ends of chromosomes, just like caps. Telomeres get shorter
with each cell division and when they get too short, the cell no longer can divide and dies. This process has
been associated with aging and cancers.

Chromosomes are arranged and are numbered according to their size and the position of their centromeres. A
chromosome with the centromere at or near the middle is known as metacentric. A submetacentric
chromosome has a centromere somewhat displaced from the middle point. Acrocentric chromosomes have
centromeres very near to one end. Telocentric chromosomes, which are absent in human cells, have their
centromeres at the very tip of one end.

The number of chromosomes in the somatic cell is diploid and is designated by the symbol 2N. The gametes,
have the haploid number N. In humans the diploid number is 46, inheriting 23 from each parent through the
sperm or egg. Homologous chromosomes form a pair with one constituent from each parent. Thus, there are 23
pairs of chromosomes in human cells. Of these, 22 pairs are known as autosomes and the remaining
chromosome pair consists of the sex chromosomes, and is directly involved in sex determination. In females,
the two sex chromosomes are identical (XX), whereas in males the two sex chromosomes are not identical
(XY). The Y chromosome is smaller than the X chromosome.
Mitosis: