MUTATION:
Mutations are “heritable changes in all living organisms”. These may occur spontaneously or
induced artificially. It occurs due to a change in the nucleotide sequence of the DNA molecule.
Types of Mutations: - Broadly mutations are of two types.
(i) Spontaneous Mutation
(ii) Induced Mutation
Spontaneous mutations occur in nature in all organisms without man’s interference. While as
induced mutations occur in nature in all living organisms by man’s interference artificially
through various mutagens like chemical mutagens and radiations. On the basis of alternations in
the sequence of DNA molecule the mutations are of two types i.e. gene mutations and genome
mutations. In gene mutations individual genes are attacked and the change occurs in the gene
sequence, where as in genome mutations, the whole chromosome sets are altered.
The various types of alternations in DNA sequence that can occur as a result of mutation in DNA
sequence (fig. below) are as follows.
(i) Point Mutation:-
It is the replacement of one nucleotide by another. A point mutation can be classified as a
transition if the change is purine to purine (A – G) or pyrimidine (T – C) or a transversion if the
alteration is purine to pyrimidine or vice versa (A of G to T or C).
(ii) Insertion or deletion:- It is the addition or removal of a base pair of an extensive piece of
DNA.
(iii) Inversion:- Inversion is the excision of a portion of double helix fallowed by its re-insertion
at the same position but in the reserve orientation.
Consequences of Mutation:- Whether a point mutation, insertion, deletion or inversion, a
mutation will probably be silent if occurs in an intergenic region. But a mutation that takes place
at a nucleotide of a codon can cause mutations at the level of gene and can result in one of the
following possible consequences.
(i) Silent Mutation:- Within a gene a silent mutation will occur, if a point mutation takes place
at the third nucleotide. Position of a codon and changes the codon but do not change the amino
acid. A silent mutation does not change the amino acid sequence and hence will not give rise to a
mutant phenotype.
(ii) Mis-sense Mutation:- It is also a point mutation but it changes the amino acid. The missense
mutation takes place at the first or second nucleotide pair of a codon. A few third position
changes in codon pair also cause missense mutation. It gives rise to protein with single amino
acid change. The appearance of a mutant phenotype depends on the precise role of this changed
sequence of amino acids in structure and function of the protein. If the protein can tolerate the
change in amino acid sequence no mutant phenotypes will be observed. But if it does not tolerate
the change, a mutant phenotype will be the outcome which lead to a mutant phenotype e.g. sickle
cell anemia.
(iii) Non-sense Mutation:- This is a point mutation that changes a codon into a termination
codon. It results in a truncated gene which causes loss of a segment of the polypeptide. If this
lost segment contains an essential amino acid, it may result in mutant phenotype e.g. clotting
disorder.
(iv) Frameshift Mutation:- This is the usual consequence of an insertion or deletion event
because of the addition or removal of base pairs a completely new set of codon is formed. This
frameshift usually produces mutant phenotype
Effect of Mutation on Organism: A Mutation result in new phenotype of the organism
sometimes a new species is evolved.
__Some mutant genes are unable to fulfill the functions in the cell and the cell becomes unable to
tolerate the loss and will die. Such mutations are called lethal mutation.
__Some mutations are unable to synthesize essential metabolites. These mutants are called
Auxotropic mutants. These mutants can be kept alive if the metabolite is supplied as a nutrient.
__Some mutants can survive only under a particular set of conditions. Such mutants are called
conditional mutant.
Q: Molecular Basis Of Mutation: All mutation results from changes in the nucleotide sequence
of DNA or form deletions, intersection or rearrangement of DNA sequence in the genome.
Base Substitution Mutation; The simplest type of mutation is a base substitution, in which a
nucleotide pair in a DNA duplex is replaced with a different nucleotide pair e. g., In an A—G
substation an A is replaced with a G in one of the DNA strands. This substitution temporarily
creates a mismatched G—T base pair at the very next replication, the miss match is resolved as a
proper G—C base pair is one daughter molecule and as a proper A—T base pair in the other
daughter molecule. In this case, the G—C base pair is the mutant ant the A—T base pair is non
mutant. Similarly, in an A—T substitution, an A is replaced with a T in one stand, creating a
temporary T—T mismatch, which is resolved by replication as T—A base pair is non mutant.
The T—A and A—T are not equivalent, as be seen by considering the nucleotide contest. If the
original unmutated DNA strand has the sequence 5—GAC—3, e g, hence the mutant strand has
the sequence 5—GTC—3 (which we have written as A—T) and the non mutant strand has the
sequence 5—GAC—3 (which we have written as A—t).
(a)Some base substitution replace or pyrimidine base with the other or one purine base with the
other. These are called transition mutation. The possible transition mutations are:
T—C OR C—T
(Pyrimidine--------Pyrimidine)
A—G OR G—A
(Purine-------------Purine)
(b) Other base substitutions replace a pyrimidine with a purine or the other way around. These
are called transversion mutations are:
T—A, T—G, C—A OR C—G
(Pyrimidine------Purine)
A—T, A—C, G—T, OR G—C
(Purine-------Primidine)
(c) Altogther, there are four possible transitions and eight possible transversion.