Mutation: Prof. Harshraj. S. Shinde K. K. Wagh College of Agril. Biotech, Nashik. India

Mutation
Prof. Harshraj. S. Shinde

K. K. Wagh College of Agril. Biotech, Nashik. India
Introduction
• Sudden heritable change in genetic material or character of an organism is
known as mutation
• Individuals showing these changes are known as mutants
• An individual showing an altered phenotype due to mutation are known

as
variant
• Factor or agents causing mutation are known as mutagens
• Mutation which causes changes in base sequence of a gene are known as

gene mutation or point mutation
History
• English farmer Seth Wright recorded case of mutation first time in 1791 in
male lamb with unusual short legs
• The term mutation is coined by Hugo de Vries in 1900 by his observation

in Oenothera
• Systematic study of mutation was started in 1910 when

Morgan
genetically analyzed white eye mutant of Drosophila
• H. J. Muller induced mutation in Drosophila by using X- rays in 1927 ;

he
was awarded with Nobel prize in 1946
Characteristics of Mutation
• Generally mutant alleles are recessive to their wild type or normal alleles
• Most mutations have harmful effect, but some mutations are beneficial
• Spontaneous mutations occurs at very low rate
• Some genes shows high rate of mutation such genes are called as
mutable gene
• Highly mutable sites within a gene are known as hot spots.
• Mutation can occur in any tissue/cell (somatic or germinal) of an

organism
Classification of mutation
• Based on the survival of an individual
1. Lethal mutation – when mutation causes death of all individuals undergoing

mutation are known as lethal
2. Sub lethal mutation - causes death of 90% individuals
3. Sub vital mutation– such mutation kills less than 90% individuals
4. Vital mutation -when mutation don’t affect the survival of an individual are
known as vital
5. Supervital mutation – This kind of mutation enhances the survival of

individual
• Based on causes of mutation
1. Spontaneous mutation-
Spontaneous mutation occurs naturally without any cause. The rate of
spontaneous mutation is very slow eg- Methylation followed by deamination
of cytosine.
Rate of spontaneous mutation is higher in eukaryotes than

prokaryotes.
Eg. UV light of sunlight causing mutation in bacteria
2. Induced Mutation-
Mutations produced due to treatment with either a chemical or
physical
agent are called induced mutation .
The agents capable of inducing such mutations are known as
mutagen.
use of induced mutation for crop improvement program is known as
mutation breeding.
• Based on tissue of origin
1. Somatic mutation-
A mutation occurring in somatic cell is called somatic mutation.
In asexually reproducing species somatic mutations from one
transmits progeny to the next progeny
2. Germinal Mutation-
When mutation occur in gametic cells or reproductive cells are known
as germinal mutation.
In sexually reproductive species only germinal mutation are transmitted to the
next generation
• Based on direction of mutation
1.Forward mutation- When mutation occurs from the

normal/wild type allele to mutant allele are known as forward
mutation
2.Reverse mutation- When mutation occurs in reverse direction

that is from mutant allele to the normal/wild type allele are
known as reverse mutation
• Type of trait affected
1. Visible mutation- Those which affects

phenotypic mutation and detected by
on
observation
character are known ascan
visible
be mutation
normal
2. Biochemical mutation- mutation which affect the

production of biochemicals and which does not not show any
phenotypic character are known as biochemical mutation
Chromosome Mutations
• May Involve:
– Changing
the
structure
loss or
gain
Chromosome Mutations
• Five types exist:
–Deletion
–Inversion
–Translocation
–Nondisjunction
–Duplication
Deletion
• Due to breakage
• A piece of a
chromosome is lost
Inversion
• Chromosome segment
breaks off
• Segment flips around
backwards
• Segment reattaches
Duplication
• Occurs when a gene sequence is repeated
Translocation
• Involves two chromosomes that aren’t
homologous
• Part of one chromosome is transferred to
another chromosomes
Translocation
Nondisjunction
• Failure of chromosomes
to separate during
meiosis
• Causes gamete to have too
many or too few chromosomes
• Disorders:
– Down Syndrome –
– Turner Syndrome –
– Klinefelter’s Syndrome –
Chromosome Mutation
Animation
Types of Gene Mutations
• Include:
–Point Mutations
–Substitutions
–Insertions
–Deletions
–Frameshift
Point Mutation
• Change of a single
nucleotide
• Includes the deletion,
insertion, or substitution
of ONE nucleotide in a
gene
Point Mutation
• Sickle Cell disease is

the result of one
nucleotide
substitution
• Occurs in the
hemoglobin gene
Frameshift Mutation
• Inserting or deleting one or more

nucleotides
• Changes the “reading frame” like
changing a sentence
• Proteins built incorrectly
Gene Mutation Animation
Reference Book
Genetics
By
B. D. Singh
(Kalyani Publications)

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Mutation

Prof. Harshraj. S. Shinde

• Individuals showing these changes are known as mutants

• An individual showing an altered phenotype due to mutation are known

• Factor or agents causing mutation are known as mutagens

• Mutation which causes changes in base sequence of a gene are known as

• The term mutation is coined by Hugo de Vries in 1900 by his observation

• Systematic study of mutation was started in 1910 when

• H. J. Muller induced mutation in Drosophila by using X- rays in 1927 ;

• Spontaneous mutations occurs at very low rate

• Highly mutable sites within a gene are known as hot spots.

• Mutation can occur in any tissue/cell (somatic or germinal) of an

1. Lethal mutation – when mutation causes death of all individuals undergoing

2. Sub lethal mutation - causes death of 90% individuals

5. Supervital mutation – This kind of mutation enhances the survival of

Rate of spontaneous mutation is higher in eukaryotes than

1.Forward mutation- When mutation occurs from the

2.Reverse mutation- When mutation occurs in reverse direction

1. Visible mutation- Those which affects

2. Biochemical mutation- mutation which affect the

• Sickle Cell disease is

• Inserting or deleting one or more

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