Gene: Types and Functions of Gene !

The term gene was introduced by Johanssen in 1909. Prior to him Mendel had used the word factor for
a specific, distinct, particulate unit of inheritance that takes part in expression of a trait. Johanssen has
defined gene as an elementary unit of inheritance which can be assigned to a particular trait.
Morgans work suggested gene to be the shortest segment of chromosome which can be separated
through crossing over, can undergo mutation and influence expression of one or more traits. Presently,
a gene is defined as a unit of inheritance composed of a segment of DNA or chromosome situated at a
specific locus (gene locus) which carries coded information associated with a specific function and can
undergo crossing over as well as mutation.
A gene is:
(i) A unit of genetic material which is able to replicate,
(ii) It is a unit of recombination, i.e., capable of undergoing crossing over,
(iii) A unit of genetic material which can undergo mutation,
(iv) A unit of heredity connected with somatic structure or function that leads to a phenotypic
expression.

According to latest concept of gene following forms of gene can be classified:
1. Muton: It is the smallest unit of gene that can undergo mutation (the same as nucleotide).
2. Recon: It is the smallest region within a gene between which but not within which recombination
occurs. So, it is the smallest unit of DNA capable of recombination.
3. Cistron: It is the unit of gene within this region the recessive mutants are non-complementary. It can
also be called as polypeptide coding gene. So, it is a unit of function in DNA systema working
definition of gene. One cistron in DNA specifies one polypeptide in protein synthesis.
Lewin (2000) has defined gene to be a sequence of DNA that codes for a diffusible product. From their
work on Neurospora auxotrophs, Beadle and Tatum (1948) proposed one- gene one-enzyme hypothesis
and defined gene as a unit of hereditary material that specifies a single enzyme. Yanofsky et al., (1965)
observed that certain enzymes could be composed of more than one polypeptide.
They replaced one-gene one-enzyme hypothesis with one gene one-polypeptide hypothesis (gene is a
unit of hereditary material that specifies the synthesis of a single polypeptide). By this time it had
become clear that hereditary material of chromosome is DNA and that a gene is linear segment of DNA
called cistron.
Therefore, the term cistron has become synonym with gene. Further, a gene or cistron can not only
synthesise a polypeptide but also ribosomal or transfer RNA. Cistron (or gene) is a segment of DNA
consisting of a stretch of base sequences those codes for one polypeptide, one transfer RNA (tRNA) or
one ribosomal RNA (rRNA) molecule. Currently such a gene is called structural gene.
The genetic system also contains a number of regulatory genes which control the functioning of
structural genes. However, there are several exceptions e.g., overlapping genes, poly-protein genes, split
genes, etc.
A gene or cistron has many positions or sites where mutations can occur. A change in single nucleotide
can give rise to a mutant phenotype, e.g., sickle cell anaemia. Similarly, two defective cistrons may
recombine to form a wild type cistron. Despite the above changes in the concepts of structural
mutational and re-combinational features of the gene, the functional concept remains the same it is a
unit of heredity.
Types of Genes:
1. House Keeping Genes (Constitutive Genes):
They are those genes which are constantly expressing themselves in a cell because their products are
required for the normal cellular activities, e.g., genes for glycolysis, ATP-ase
2. Non-constitutive Genes (Luxury Genes):
The genes are not always expressing themselves in a cell. They are switched on or off according to the
requirement of cellular activities, e.g., gene for nitrate reductase in plants, lactose system in Escherichia
coli. Non- constitutive genes are of further two types, inducible and repressible.
3. Inducible Genes:
The genes are switched on in response to the presence of a chemical substance or inducer which is
required for the functioning of the product of gene activity, e.g., nitrate for nitrate reductase.
4. Repressible Genes:
They are those genes which continue to express themselves till a chemical (often an end product)
inhibits or represses their activity. Inhibition by an end product is known as feedback repression.
5. Multigenes (Multiple Gene Family):
It is a group of similar or nearly similar genes for meeting requirement of time and tissue specific
products, e.g., globin gene family (e, 5, (3, on chromosome 11, oc and 8 on chromosome 16).
6. Repeated Genes:
The genes occur in multiple copies because their products are required in larger quantity, e.g., histone
genes, tRNA genes, rRNA genes, actin genes.
7. Single Copy Genes:
The genes are present in single copies (occasionally 23 times), e.g., protein coding genes. They form
6070% of the functional genes. Duplications, mutations and exon reshuffling can form new genes.
8. Pseudogenes:
They are genes which have homology to functional genes but are unable to produce functional products
due to intervening nonsense codons, insertions, deletions and inactivation of promoter regions, e.g.,
several of snRNA genes.
9. Processed Genes:
They are eukaryotic genes which lack introns. Processed genes have been formed probably due to
reverse transcription or retroviruses. Processed genes are generally non-functional as they lack
promoters.
10. Split Genes:
They were discovered in 1977 by many workers but credit is given to Sharp and Roberts (1977). Split
genes are those genes which possess extra or nonessential regions interspersed with essential or coding
parts. The nonessential parts are called introns, spacer DNA or intervening sequences (IVS). Essential or
coding parts are called exons. Transcribed intronic regions are removed before RNA passes out into
cytoplasm. Split genes are characteristic of eukaryotes.
However, certain eukaryotic genes are completely exonic or non-split e.g., histone genes, interferon
genes. Split genes have also been recorded in prokaryotes, thymidylate synthase gene and
ribonucleotide reductase gene in T
4
. A gene that produces calcitonin in thyroid forms a neuropeptide in
hypothalamus by removing an exon. Adenovirus has also a mechanism to produce 1520 different
proteins from a single transcriptional unit by differential splicing.
11. Transposons (Jumping Genes; Hedges and Jacob, 1974):
They are segments of DNA that can jump or move from one place in the genome to another.
Transposons were first discovered by Me Clintock (1951) in case of Maize when she found that a
segment of DNA moved into gene coding for pigmented kernels and produced light coloured kernels.
Transposons possess repetitive DNA, either similar or inverted, at their ends, some 5, 7 or 9-nucleotide
long. Enzyme transposase separates the segment from its original by cleaving the repetitive sequences
at its ends.
There are many types of transposons. In human beings the most common types of transposons belong
to Alu family (having a site for cutting by restriction enzyme Alu I). The number of nucleotides per
transposon is about 300 with about 300,000 copies in the genome. Passage of transposons from one
place to another brings about reshuffling of nucleotide sequences in genes. Reshuffling in introns often
changes expression of genes, e.g., proto-oncogenes oncogenes. New genes may develop by exon
shuffling. Other changes caused by transposons are mutations, through insertions, deletions and
translocations.
12. Overlapping Genes:
In x 174, genes E and overlap other genes.
13. Structural Genes:
Structural genes are those genes which have encoded information for the synthesis of chemical
substances required for cellular machinery.
The chemical substances may be:
(a) Polypeptides for the formation of structural proteins (e.g., colloidal complex of protoplasm, cell
membranes, elastin of ligaments, collagen of tendons or cartilage, actin of muscles, tubulin of
microtubules, etc.). (b) Polypeptides for the synthesis of enzymes,
(c) Transport proteins like haemoglobin of erythrocytes, lipid transporting proteins, carrier proteins of
cell membranes, etc.
(d) Proteinaceous hormones, e.g., insulin, growth hormone, parathyroid hormone,
(e) Antibodies, antigens, certain toxins, blood coagulation factors, etc.
(f) Non-translated RNAs like tRNAs, rRNA. Broadly speaking, structural genes either produce mRNAs for
synthesis of polypeptides/proteins/enzymes or noncoding RNAs.
14. Regulatory Genes (Regulatory Sequences):
Regulatory genes do not transcribe RNAs for controlling structure and functioning of the cells. Instead,
they control the functions of structural genes. The important regulatory genes are promoters,
terminators, operators and repressor producing or regulator genes. Repressor does not take part in
cellular activity. Instead, it regulates the activity of other genes. Therefore, repressor producing gene is
of intermediate nature.
15. Tissue Specific Genes:
They are genes which are expressed only in certain specific tissues and not in others.
Gene Functions:
(i) Genes are components of genetic material and are thus units of inheritance,
(ii) They control the morphology or phenotype of individuals,
(iii) Replication of genes is essential for cell division,
(iv) Genes carry the hereditary information from one generation to the next,
(v) They control the structure and metabolism of the body,
(vi) Reshuffling of genes at the time of sexual reproduction produces variations,
(vii) Different linkages are produced due to crossing over,
(viii) Genes undergo mutations and change their expression,
(ix) New genes and consequently new traits develop due to reshuffling of exons and introns.
(x) Genes change their expression due to position effect and transposons.
(xi) Differentiation or formation of different types of cells, tissues and organs in various parts of the
body is controlled by expression of certain genes and non-expression of others,
(xii) Development or production of different stages in the life history is controlled by genes.