MUTATIO
N
Significance of Mutations
According to one hypothesis mutation is responsible for the separation of
existing human beings from our ancestor primates
Future
Present day human
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Mutation is an abrupt qualitative or quantitative change in the genetic material/
Any change in the nucleotide sequence of DNA, which gives rise to a mutant genotype
The organism which undergoes mutation is known as mutant
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History
The earliest record of
point mutation dates back
to 1791, when Seth Wright
noticed a lamb with
exceptionally short legs
in his flock of sheep.
Mutation - Coined by Hugo de Vris in1900 to explain the heritable changes
in evening primrose Oenothera lamrckiana
Mutagenesis - Process of producing mutations
Mutagen - A physical/chemical/biological agent that causes mutations
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The first scientific study of mutation started in 1910, when
Morgan started his work on fruit fly Drosophila
melanogaster after he observed white eyed male individuals
among red eyed male individuals.
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Classification
Based on the origin: Natural / Artificial (induced)
Based on the type of cells: Somatic/Gametic
Based on type of chromosomes: Autosomal / Allosomal
Based on direction: Forward/Reverse
Based on size: Point/Gross
Silent Mutations:- has no detectable effect of phenotype
Leaky mutations:- Causes amino acid substitution, eventually it
reduces the activity of an enzyme.
Nonsense Mutations or Chain termination Mutation:- Causes
premature termination of polypeptide chain.
etc.,
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Natural Mutation
Spontaneous mutations occur suddenly in the nature and
their origin is unknown. They are also called as background
mutations and have been reported in many organisms such
as Oenothera, Maize, Drosophila, Mice, Man etc.,
For example TAUTOMERISM
Frequency of total mutations - 10-7 to 10-12/organism
(i.e., 0.0000001- 0.000000000001)
Frequency of detectable mutations - 1 in 106 (i.e., 0.000001)
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Induced Mutation
Mutation can be induced artificially in the living
organisms by exposing them to abnormal
environment such as radiations, certain
physical conditions (i.e. temperature) and
chemicals.
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Mutagens
The substances or agents which induce mutations
are called mutagens or mutagenic agents. They
may be physical, chemical or biological.
1.Physical –Radiations: i. Ionizing -X-rays, gamma, Alpha,
Beeta, protons, nutrons etc.,
ii. Non Ionizing -UV
Temperature-
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2.Chemical –
Base Analogues: 2,aminopurine, 5-bromourasil etc.,
Base Modifying agents: Nitrous acid, Hydroxylamine etc.,
Distortion producing agents: Proflavin, acridine orange etc.,
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3.Biological Mutagens: They may be viral or
bacterial.
H. Pylori- implicated in stomach
cancer Hepatitis B virus-
implicated in liver cancer
H. papiloma virus-implicated in
cervical cancer
Human T-cell lymphocytic virus
implicated in lymphoma
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Point Mutation / Gene Mutation
A mutation that changes only one small area or one
nucleotide in a gene
Earliest record of point mutation dates back to
1791 by Seth Wright.
Since then mutations have been reported in E.
coli, Neurospora, Pea, Maize, Rodents, Fowls,
Man, etc.,
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Frame Shift Mutation
A mutation that inserts or deletes a single
base (normally single rarely more) will change the
reading frame for the entire subsequent
sequence.
A change of reading frame is called Frame
shift
mutation.
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Central Dogma of Molecular Biology
Shows the connection between DNA, RNA & Protein
As shown in this
picture,
If any change
occurs in DNA
Molecule; that
alters the
reading frame
during
Transcription
and translation.
Hence, it is
called as Frame
shift mutation
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Frame Shift Mutation may be
i.Deletion: Removal of one or few bases from a
nucleotide chain is called a deletion.
ii.Insertion: This is due to the addition of one or more
(few) nucleotides to the DNA.
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Substitution:- A nitrogenous base of a
codon is replaced by another base
is called substitution mutation. They maybe
1. Transition
2. Transversion
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1. Transition: When a purine base of a triplet codon is
substituted by another purine base or a pyrimidine
base is substituted by another pyrimidine
Base change from AT to G C
MUTATION
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Transversion: The substitution mutation when
involves the substitution or replacement of a purine
with a pyrimidine or vice versa, then such type of
substitution mutation is called transversion
mutation.
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Chemical Mutagenesis
Test for mutagenic effects of chemical agents are
almost as old as modern genetics. In 1934, Morgan
tried to produce mutations in Drosophila by
treating with alcohol and ether, but without
success. After a number of attempts by many
workers the search for chemical agents met with
only during Second World War.
Types:
Copy Errors by Base Analogues
Direct Effect on DNA
Agents Producing Distorsions
in DNA
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RADIATION MUTAGENESIS
Ionizing radiations:- High-energy radiation
capable of producing ionization in substances
through which it passes.
Ionization:- Any process that leads to the
dissociation of a neutral atom, molecule or
other species into ions; the state of being
ionized.
Eg., X-rays, α, β, gamma rays, fast moving
particles etc.,
Non Ionizing radiations:- Uv, Radio waves,
Visible Light
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