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GENE MUTATION:

Gene mutation is abrupt inheritable qualitative or


quantitative change in the genetic material of an
organism.
Since in most organisms genes are segments of DNA molecule,
so a mutation can be regarded as a change in the DNA sequence
which is reflected in the change of sequence of corresponding
RNA or protein molecules. Such a change may involve only one
base/base pair or more than one base pair of DNA.
Mutations occur in a random manner, i.e., they are not directed
according to the requirements of the organism. Most mutations
occur spontaneously by the environmental effect ,however,
they can be induced in the laboratory either by radiations,
physical factors or chemicals (called mutagens). A unicellular
organism is more subjected to environmental on-slaughts since it
is at the same time a somatic or germ cell.
In multi cellular organisms the germ cells are distinct cells, and
are relatively protected from the environment. Mutation has a
significant role to play in the origin of species or evolution
Historical Background
The earliest record of point mutations dates back to 1791,
when Seth Wright noticed a lamb with exceptionally short legs
in his flock of sheep. Visualising the economic significance of this
short-legged sheep. i.e., short legged sheep could not cross the
low stone fence and damage the crop fields in the vicinity, he
produced a flock of sheep, each of which having short legs by
employing artificial breeding techniques. The short legged breed
of sheep was known as Ancon breed. Later on, the trait of short
legs was found to be resulted from a recessive mutation and the
short legged individuals were found to be homozygous recessive
OCCURANCE

Mutations occur frequently in the nature and have been reported


in many organisms, e.g. Drosophila, mice and other rodents, rats,
rabbits, guinea pigs and man. In the Drosophila, mutation causes
white and pink eyes, black and yellow body colors, and vestigial
wings. In rodents the mutations are responsible for black, white
and brown coats. In man, the mutations cause variation in hair
color, eye color, skin pigmentation and several somatic
malformations. Various genetical diseases of human beings such
as haemophila color blindness, phenyl ketonuria, etc., form
other examples of mutation in human beings.
How does a mutation act?
Any change in sequence of nucleotides in the DNA will result in
the corresponding change in the nucleotide sequence of mRNA.
This may result in alignment of different tRNA molecules on
mRNA (during protein synthesis). Thus, the amino acid sequence,
and, hence, the structure and properties of the enzyme formed
will be changed. This defective enzyme or structural protein may
adversely affect the trait controlled by the protein. In
consequence, a mutant phenotype makes its expression.

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