CHROMOSOMES,

GENES AND
NUCLEIC ACIDS
SHERWIN B. TORIANO, RMT, MSMT
Chromosomes

The nucleus of each cell in our bodies contains approximately 1.8 meters
of DNA in total, although each strand is less than one millionth of a
centimeter thick. This DNA is tightly packed into structures called
chromosomes, which consist of long chains of DNA and associated
proteins.

DNA molecules are tightly wound around histone proteins which provide
structural support and play a role in controlling the activities of the
genes. A strand 150 to 200 nucleotides long is wrapped twice around a
core of eight histone proteins to form a structure called a nucleosome.
Solenoids
The histone octamer at the center of the nucleosome is formed from
two units each of histones. The chains of histones are coiled in turn to
form a solenoid. Further coiling of the solenoids forms the structure of
the chromosome.

Each chromosome has a constriction point called the centromere

which divides the chromosome into two sections, or “arms.” The p arm
(from the French word 'petit', meaning small) is the short arm, and the
q arm (the next letter in the alphabet) is the long arm. In their
replicated form, each chromosome consists of two chromatids.
The chromosomes ,and the DNA they contain, are copied as part of
the cell cycle, and passed to daughter cells through the processes of
mitosis and meiosis.

Human beings have 46 chromosomes, consisting of 22 pairs of

autosomes and a pair of sex chromosomes: two X sex chromosomes
for females (XX) and an X and Y sex chromosome for males (XY). One
member of each pair of chromosomes comes from the mother
(through the egg cell); one member of each pair comes from the
father (through the sperm cell).
Gene

The gene is the basic physical and

functional unit of heredity. It consists of
a specific sequence of nucleotides at a
given position on a given chromosome
that codes for a specific protein (or, in
some cases, an RNA molecule).

A human being has 20,000 to 25,000

genes located on 46 chromosomes (23
pairs). These genes are known,
collectively, as the human genome.
Genes consist of three types of nucleotide sequence:
• coding regions, called exons, which specify a sequence of amino acids
• non-coding regions, called introns, which do not specify amino acids
• regulatory sequences, which play a role in determining when and where
the protein is made (and how much is made).
Nucleic Acids

• 5% of the total components in Mammalian Cell

• "Blueprints" of life
• Store information that the body needs to build proteins
• The basic unit in nucleic acids is called a Nucleotide.
• DNA & RNA are polymers, long chains of repeating nucleotide units.

Each nucleotide consists of three components:

• nitrogenous base
• five-carbon pentose sugar
• phosphate molecule
Nitrogenous Bases
Two types of nitrogenous bases are found in all nucleic acids. These are
derivatives of purine and pyrimidine.
1. Purine Bases
These are all derived from their parent compound purine, which contains
a six membered pyrimidine ring fused to the 5 membered imidazole ring,
the purine derivatives found in nucleic acids are adenine and guanine.
2. Pyrimidine Bases
These are all derived from their parent heterocyclic compound
pyrimidine. The common pyrimidine derivatives found in nucleic
acids are Uracil, Thymine and Cytosine.
Base Pairing
Base pairing is an essential feature not only
to maintain the double helical structure of
DNA, but also plays an important role in
DNA, RNA and protein biosynthesis.

In DNA :
Adenine (A) pairs with thymine (T)
Guanine (G) pairs with cytosine (C)
In RNA :
Adenine (A) pairs with uracil (U)
Guanine (G) pairs with cytosine (C)
Ribose Sugar
The ribose sugar is a cyclical structure consisting of five carbons and one
oxygen. A chemically reactive hydroxyl (−OH) group is attached to the 2nd
carbon in the ribose sugar molecule of an RNA, which is only a H+ in DNA.
Phosphate
Phosphates are bound to the 5th carbon of a ribose in a nucleotide.
The number of phosphate may vary from one nucleotide to another.
Adenosine triphosphate (ATP),
the universal energy carrier, is
a single nucleotide (adenine)
with two extra phosphate
groups attached.
During polymerization,
each incoming nucleotide
loses a pyrophosphate
group and forms an ester
linkage with the 3' hydroxyl
group of the ribose on the
existing last nucleotide,
forming a phosphodiester
bond.
It is the order of the bases along a single strand that constitutes the
genetic code. The four-letter 'alphabet' of A, T, G and C forms 'words' of
three letters called codons. Individual codons code for specific amino
acids. For example, the codon AGC codes for the amino acid serine,
and the codon ACC codes for the amino acid threonine.

There are a two points to note about the genetic code:

•It is universal. All life on Earth uses the same code (with a few minor
exceptions).
•It is degenerate. Each amino acid can be coded for by more than one
codon. For example, AGA and AGG both code for the amino acid
arginine.
DNA

Deoxyribonucleic acid or DNA is the molecule that carries the genetic

information. It belongs to a class of molecules called the nucleic acids,
which are polynucleotides.

Each nucleotide consists of three components:

•a nitrogenous base:
cytosine (C) guanine (G)
adenine (A) thymine (T)
•a five-carbon sugar molecule (deoxyribose)
•a phosphate molecule
The double helix of the complete DNA molecule
resembles a spiral staircase, with two sugar
phosphate backbones and the paired bases in
the center of the helix.

The bases link across the two strands in a

specific manner using hydrogen bonds:
cytosine (C) pairs with guanine (G)
adenine (A) pairs with thymine (T)
RNA

Ribonucleic acid (RNA) is a polymeric molecule

essential in various biological roles in coding,
decoding, regulation and expression of genes.

Like DNA, RNA is assembled as a chain of

nucleotides, but unlike DNA it is more often found
in nature as a single-strand folded onto itself,
rather than a paired double-strand.
RNA is a high molecular weight complex compound that functions in
cellular protein synthesis and replaces DNA as a carrier of genetic codes
in some viruses.
RNA consists of ribose nucleotides (nitrogenous bases appended to a
ribose sugar) attached by phosphodiester bonds, forming strands of
varying lengths. The nitrogenous bases in RNA are:
Adenine Guanine
Cytosine Uracil (replacing thymine)
The ribose sugar of RNA is a cyclical structure consisting of five carbons
and one oxygen. A chemically reactive hydroxyl (−OH) group is attached to
the second carbon group in the ribose sugar molecule.
Types of RNA:
Messenger RNA (mRNA) - convey genetic
information that directs synthesis of
specific proteins.
Ribosomal RNA (rRNA)- links amino
acids together to form proteins
Transfer RNA (tRNA)- deliver amino acids
to the ribosome, that is specified by
the mRNA.