CONCEPT OF GENE

✓ A gene is the basic physical and functional unit of heredity.

✓ Genes are made up of DNA.
✓ The role of hereditary units (factors) in transfer of genetic characters over several generations in
organisms was advocated by Gregor John Mendel.
✓ Yet the mystery of the ‘hereditary units’ was unrevealed during early 1900s.
✓ In 1909, Watson Johanson coined the term ‘gene’ that act as hereditary units.
✓ Sutton and Boveri proposed Chromosome theory of Heredity.
✓ In, 1906, W.Bateson and R. C Punnet reported the first case of linkage in sweet pea and proposed the
presence or absence theory.
✓ In 1926, T.H Morgan discarded all the previous theories and put forth the paniculate gene theory. He
thought that genes are arranged in a linear order on the chromosome and look like beads on a string.

Major Contributions/History
✓ In 1969, Shapiro and co-workers published the first picture of isolated genes.
✓ They purified the lac operon of DNA and took photographs through electron microscope.
✓ In 1941, G.W. Beadle and E.L. Tatum working at St Standford university clearly demonstrated one-
gene-one enzyme hypothesis, based on experiments on Neurospora crassa.

One Gene-One Enzyme Hypothesis-

✓ Beadle and Tatum made it clear that genes are the functional units and transmitted to progenies over
generations; also, they undergo mutations.
✓ They treated N. crassa with X-rays and selected for X-ray induced mutations that would have been
lethal.
✓ Their selection would have been possible when N. crassa was allowed to grow on nutrient medium
containing vitamin B6.
✓ This explains that X-rays mutated vitamin B6 synthesizing genes.
✓ They concluded that a gene codes for the synthesis of one enzyme.
✓ In 1958, Beadle and Tatum with Lederberg received a Nobel prize for their contribution to
physiological genetics.

Figure 1: Diagrammatic Representation of Beadle and Tatum Experiment

 Gene Theory
✓ This theory of gene was well accepted by the cytologists.
✓ In 1933, Morgan was awarded Nobel prize for advocating the theory of genes.
✓ After the discovery of DNA as carrier of genetic information, the Morgan's theory was discarded.
✓ Therefore, it is necessary to understand both, the classical and modern concepts of gene.
✓ According to the classical concepts a gene is a unit of
(i) physiological functions,
(ii) transmission or segregation of characters,
(iii) mutation.

Chemical Nature of Gene

DNA-
✓ Deoxyribonucleic Acid
✓ Double helix
✓ Carries genetic information
✓ Located in the nucleus
✓ The monomer is a nucleotide
– A phosphate
– A ribose sugar
– A nitrogenous base
Bases in DNA:
A – adenine
T – thymine
C – cytosine
G – guanine

Figure 2: Structure of DNA

✓ Nucleotide It is the units that make up DNA.
✓ Nucleotides are composed of a 5- carbon sugar (deoxyribose), a phosphate group, and a nitrogen base
(each nucleotide has only one of the four; A, C, T, G.
✓ Purines- heterocyclic aromatic organic compound, consisting of a pyrimidine ring fused to a
imidazole ring.
✓ Pyrimidines- heterocyclic aromatic compound similar to benzene and pyridine, containing 2
nitrogen atoms at positions 1 and 3 of the six-member ring.

Figure 3: Structure of Purines and Pyrimidines

Classical Concept of Gene

✓ Classical concept of gene was introduced by Sutton (1902) and was elaborated by Morgan (1913).
Bidge (1923), Muller (1927) and others which outlined as follows:
i. Genes are discrete particles inherited in Mendelian fashion that occupies a definite locus in
the chromosome and responsible for expression of specific phenotypic character.
ii. Numbers of genes in each organism is more than no. of chromosome, hence several genes
are located on each chromosome.
iii. The genes are arranged in a single linear order like beads on string.
iv. Each gene occupies specific location called locus.
v. If the position of gene changes, then character changes.
vi. Gene can be transmitted from parents to offsprings.
vii. Genes may exist in many alternate forms called alleles.
viii. Genes may undergo sudden changes in position and composition called mutation.
Genes are capable of self-duplication producing their own copies.
 After the discovery of DNA, the gene has been defined as cistron, recon and muton. The classical gene
is the smallest unit that could undergo a mutational change. A gene further divided into smaller units
of function, mutation and recombination n.

Symour Benzer (1955-USA) coined the terms cistron, recon, and muton to explain the relationship
between DNA and genetic phenomena.

a) Cistron: It is the unit of function. C istron represents a segment of the D N A molecule and consists
of a linear sequence of nucleotides, which controls some cellular function. In E. Coli cistron may
contain about 1500 base pairs. Some cistrons may contain as many as 30,000 base pairs. The cistron
begin with initiation codon and ends with a terminating codon. Each cistron is responsible for coding
one m-RNA molecule which in turn controls the formation of one polypeptide chain. Each cistron
consists of hundreds of mutons and recons.

(b) Recon: It is a unit of recombination. It is the smallest unit capable of recombining genetically.
Recombination studies on microbes indicate that structurally the recon consists of one or two pairs of
nucleotides, possibly only one pair.

(c) Muton: It is a unit of mutation. The shortest chromosomal unit capable of undergoing mutation has
been called the muton. The muton consists of one or many pairs of nucleotides within the DNA
molecule.

Molecular Concept of Gene

✓ In molecular terms, a gene commonly is defined as the entire nucleic acid sequence that is necessary
for the synthesis of a functional polypeptide.
✓ According to this definition, a gene includes more than the nucleotides encoding the amino acid
sequence of a protein, referred to as the coding region.
✓ A gene also includes all the DNA sequences required for synthesis of a particular RNA transcript.
✓ In some prokaryotic genes, DNA sequences controlling the initiation of transcription by RNA
polymerase can lie thousands of base pairs from the coding region.

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. N on- 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) Multigene (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, у 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, tRN A genes, rRN A genes, actin genes.

7) Single Copy Genes: - The genes are present in single copies (occasionally 2²3 times), e.g., protein
coding genes. They form 60²70% 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 snRN A 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 RN A passes out into cytoplasm. Split genes are characteristic of eukaryotes.

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 D N A 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.

12) Overlapping Genes: - Overlapping genes are defined as a pair of adjacent genes whose coding regions
are partially overlapping. In other words, a single stretch of DNA codes for portions of two
separate proteins. For two genes to overlap, the signal to begin transcription for one must reside
inside the second gene, whose transcriptional start site is further “upstream.”
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., 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., insulin, growth hormone, parathyroid hormone,
e) A ntibodies, 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 RN As.

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.

16. Junk Genes: - A DNA sequence that is part of a genome and is not known to code for proteins or to
regulate the expression of genes. Junk DNA may constitute up to 95 percent of the human genome and is
postulated to be involved in the evolution of new genes and possibly the repair of genes.

Functions of Genes
1) Genes are components of genetic material and are thus units of inheritance,
2) They control the morphology or phenotype of individuals,
3) Replication of genes is essential for cell division,
4) Genes carry the hereditary information from one generation to the next,
5) They control the structure and metabolism of the body,
6) Reshuffling of genes at the time of sexual reproduction produces variations,
7) Different linkages are produced due to crossing over,
8) Genes undergo mutations and change their expression,
9) New genes and consequently new traits develop due to reshuffling of exons and introns.
10) Genes change their expression due to position effect and transposons.
11) 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,
12) Development or production of different stages in the life history is controlled by genes