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2 CHROMOSOMES AND GENES

2.1 Chromosomes
The chromosomes are named for their
ability to take up certain stains.
Each human somatic cell contains 23
pairs of different chromosomes, for a
total of 46. One member of each pair is
derived from one’s father, while the
other member is derived from one’s
mother. One of the chromosome pairs
consists of the sex chromosomes. In
normal males the sex chromosomes are a
Y chromosome inherited from the father
and an X chromosome inherited from the
mother. Two X chromosomes are found
in normal females, one inherited from
each parent. The other 22 pairs of
chromosomes are termed autosomes.
Ploidy refers to the number of
complete sets of chromosomes in a cell. A
haploid cell contains a single set of
chromosomes (e.g. gametes). In humans,
the haploid number is 23. A diploid cell
contains two full sets of homologous
chromosomes (e.g. somatic cells). In
humans, the diploid number is 46.
Karyotype is the chromosome
complement of a cell. In a standard
karyotype the chromosomes are
conventionally arranged in an order
depending upon size, shape, and banding
patterns.
The karyotype of a normal male. Each human
somatic cell has 23 pairs of chromosomes. In normal
males the sex chromosomes are an X chromosome
and a Y chromosome.
The karyotype of a normal female. In normal
females the sex chromosomes are two X
chromosomes.
2.2 Genes
2.2.1 What is gene?
Chromosomes contain genes. Gene is a
nucleic acid sequence, usually a DNA
sequence required for production of a
functional product, usually a
polypeptide, but rarely, an untranslated
RNA.
So physically genes are composed of
DNA. DNA provides the genetic
“blueprint” for all proteins in the body.
Thus genes ultimately influence all
aspects of body structure and function.
The human is estimated to have 30 000 to
40 000 genes.
Chromosome, gene, and DNA.
2.2.2 Composition and structure of DNA
The DNA molecule has three basic
components: the pentose sugar,
deoxyribose; a phosphate group; and
four types of nitrogenous bases. Two of
the bases, cytosine and thymine, are
single carbon-nitrogen rings called
pyrimidines. The other two bases,
adenine and guanine, are double carbon-
nitrogen rings called purines. The four
bases are commonly represented by their
first letters: C, T, A, and G.
In the now-famous double helix model,
the pairing of adenine with thymine and
guanine with cytosine is known as the
principle of complementary base pairing.
Chemical structure of the four bases, showing hydrogen
bonds between base pairs. Three hydrogen bonds are formed
between cytosine-guanine pairs, and two bonds are formed
between adenine-thymine pairs.
The DNA double helix, with sugar-phosphate
backbone and nitrogenous bases.
2.2.3 From genes to proteins
DNA sequences encode proteins
through the processes of transcription
and translation. Briefly the DNA code is
transcribed into mRNA, which then
leaves the nucleus to be translated into
proteins. Transcription and translation
both involves RNA, a single-stranded
molecule similar to DNA except that it
has a ribose sugar and has a uracil base
rather than thymine.
A summary of the steps leading from DNA to proteins.
Replication and transcription occur in the cell nucleus, after
which the mRNA is transported to the cytoplasm, where
translation of the mRNA into amino acid sequences
composing a protein occurs.
2.3 DNA coiling
Textbook illustrations usually depict
DNA as a double-helix molecule that
continues in a long straight line.
However, if the DNA in a cell were
actually stretched out in this way, it
would be about 2 m in length. To
package all of this DNA into a tiny cell
nucleus, it is coiled at several levels.
First, the DNA is wound around a
histone protein core to form a
mucleosome. About 140 to 150 DNA
bases are wound around each histone
core, and then 20 to 60 bases form a
“spacer” element before the next
nucleosome complex. The nucleosomes in
turn form a helical solenoid; each turn of
the solenoid includes about six
nucleosomes. The solenoids themselves
are organized into chromatin loops,
which are attached to a protein scaffold.
Each of these loops contains
approximately 100 kb of DNA. The end
result of this coiling and looping is that
the DNA, when at its maximum stage of
condensation, is only about 1/10 000th
the length it would be if it were fully
stretched out.
DNA is a tightly coiled structure. This
coiling occurs at several levels, the
nucleosome, the solenoid, and 100-kb
chromatin loops.
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Patterns of DNA coiling. DNA is wound around histones to
form nucleosomes. These are organized into solenoids, which
in turn compose chromatin loops.
After we have learned this chapter we
should be able to :
1.Distinguish between normal human
male karyotype and female karyotype.
2.Describe what gene is.
3.Describe the patterns of DNA
coiling.