Topic: Mutation, mutagenic agents

and types of mutation

By:Tr. Winfred
 TABLE OF CONTENT
 Mutation
 Characteristics of mutation
 History
 Mutagenic agent/mutagen
 Classification of mutations
 Based on the survival of an individual
 Based on causes of mutation
 Based on tissue of origin
 Types of mutation
 Chromosomal mutations
 Gene mutation
 Mutation
 In broad sense, the term 'mutation' refers to all the
heritable changes in the genome or in the genetic
material of an organism.
 May occur in somatic cells, are not passed to
offspring.
 May occur in gametes (egg and sperm) and be
passed to offspring.
 Mutations are important because they increase
genetic variation.
 Characteristics of Mutation
 The unit of gene mutation is the muton
 Mutations may be intragenic or intergenic
 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 genome are known as hot spots
 Mutation can occur in any tissue/cell (somatic or germinal) of an
organism
 History
 Term mutation was coined by Hugo de Vries in 1900 during
his observations in Oenothera
 Systematic studies on mutation was started by T H Morgan in
1910when he genetically analysed 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
 The first report of mutagenic action of a chemical was in 1942
by Charlotte Auerbach
Mutagenic agent/mutagen
Mutations can be induced by a number of agents. Mutagen is a
natural or human-made agent (physical or chemical) which can alter
the structure or sequence of DNA.
The different mutagenic agents may be classified into the
following two broad groups:
1) Physical mutagens
2) Chemical mutagens
Physical mutagens
 The different types of radiations having mutagenic properties are known as physical
mutagens.
 eg: UV rays, X rays, gamma rays and cosmic rays etc.

Chemical mutagens
 Various chemicals which have the ability of induction of mutation are chemical
mutagen.
 There are many chemical mutagens; some well-known examples are:
 nitrous acid—It causes C to U, C to T, and A to hypoxanthine deaminations
 nitrosoguanidine, methyl methanesulfonate (MMS), ethyl methanesulfonate
(EMS)
 Acridine orange, proflavin, ethidium bromide (used in labs as dyes and mutagens).
Based on causes of mutation
 1. Spontaneous mutation
 Spontaneous mutation occurs naturally without any cause. The rate of spontaneous
mutation is very slow.
 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 .
 use of induced mutation for crop improvement program is known as mutation
breeding.
 Eg. X- rays causing mutation in cereals
Based on tissue of origin
 1. Somatic mutation-
 A mutation occurring in somatic cell is called somatic mutation.
 Because they do not occur in cells that give rise to gametes, the mutation is
not passed along to the next generation by sexual means.
 In asexually reproducing species somatic mutations transmits from one
generation to the next generation.
 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.
 Because germ cells give rise to gametes, some gametes will carry the mutation
and it will be passed on to the next generation.
Types of mutation
Chromosomal mutations
 May involve:
 Changing the structure of a chromosome
 The loss or gain of part of a chromosome
 Four types generally exist:
 Deletion- loss of a segment of a chromosome
 Duplication- repetition of a segment of a chromosome
 Translocation- Exchange of segments between two non-
homologous chromosomes
 Inversion- Change in the linear order of genes by rotation of a
section of a chromosome by 180 degrees.
Gene mutation
 Change in the nucleotide sequence of a
gene.
 Mutation which causes changes in base
sequence of a gene are known as gene
mutation or point mutation
 May only involve a single nucleotide
 Types of Gene Mutations Include:
 Point Mutations
 Substitutions
 Frameshift
Point Mutation
 Change of a single nucleotide
 • Includes the deletion, insertion, or substitution of one
nucleotide in a gene
 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 as a result of frameshift mutation
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