A2 GENES

Structure

of genes
Gene families
Gene expression
Gene promoter
Introns and exons
Pseudogenes

1. Structure of genes
In

physical terms, a gene is a discrete

segment of DNA with a base sequence that
encodes the amino acid sequence of a
polypeptide, or a RNA nucleotide sequence.
Genes vary in size from less than 100 base
pairs to several million base pairs.
The genes are very dispersed and are
separated by intergenic DNA also called
extragenic region (Fig. 1).

Figure 1. Gene in DNA molecule

 The

two strands of a gene are called

template strand (also called antisense/
noncoding strand ) and nontemplate strand
(also called sense/ coding strand).
The capacity of DNA molecules to store
information is enormous: the number of
different combinations of the four bases is 4n.

2. Gene families
Some

genes are organized into groups or

clusters, which are called operons and
multigene families.
Operons are gene clusters found in bacteria.
In an operon, genes are regulated in a
coordinated way and encode proteins with
closely related functions. e.g. Lac operon
(Fig. 2)

Figure 2. The lac operon. Three genes (Lac Z, Y and A) are

arranged and regulated together

 In

higher organisms, clustered genes exist as

multigene families. Unlike operons, the genes
in a multigene family are identical or very
similar and are not regulated coordinately.
Simple and complex multigene families: the
genes are identical (e.g. 5S rDNA) or not
(e.g. globin gene family) respectively (Fig. 3).

Ribosomal RNA genes

Intergenic DNA
(a) Simple multigene family

Figure 3. Multigene family

3. Gene expression
Gene

expression is the process by which

information stored in the base sequence of
DNA molecule is made available to the cell.
Central dogma, originally proposed by Crick,
states that information is transferred from
DNA to RNA to protein, which are named
transcription and translation respectively.

 Reverse

transcription: in retrovirus, an
enzyme called reverse transcriptase copy
RNA into DNA.
The biological information contained within
the genes acts as a set of instructions for
synthesizing proteins at the correct time and
in the correct place.

The flow of genetic information

4. Gene promoters
Gene

expression is highly regulated. Different

genes are active in different cells.
Expression of genes is regulated by a
segment of DNA sequence present upstream
of the coding sequence known as the
promoter.

 RNA

polymerase and transcription factors

recognize and bind sequences conserved in
the promoter and initiates transcription.
The expression of a gene in a cell is
determined by the promoter sequence and its
ability to bind RNA polymerase and
transcription factors.

5. Introns and Exons

In

higher organisms, the coding information is

usually split into a series of segments of DNA
sequence called exons.
The sequences that separate exons are
introns which do not code. Introns are
usually much longer than exons.

 Splicing:

the removal of introns from

primary transcript and leaves the exons
and the coding information continuous.

6. Pseudogenes
Errors

in base sequences make it impossible

for genes to contain useful information, these
genes are called pseudogenes. Therefore,
pseudogenes are evolutionary relics.
Examples: globin pseudogenes

Questions
Explain:

Gene family, Exon, Intron, Splicing,

Promoter, Pseudogene
Describe the central dogma.