mutation - dr. h.b. mahesha · frequency of total mutations - 10-7to 10-12 /organism (i.e.,...
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MUTATION
Dr.H.B.Mahesha
Associate Professor and Head
Department of Sericulture
Yuvaraja’s College
University of Mysore, India.Sunday, December 30, 2018 www.hbmahesh.weebly.com 1
Significance of Mutations
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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
HistorySeth Wright, 1791
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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
T.H.MorganT.H. Morgan 1910 Drosophila melanogaster
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ClassificationBased on the origin: Natural / Artificial (induced)
Based on the cells: Somatic/Gametic
Based on chromosomes: Autosomal / Allosomal
Based on direction: Forward/Reverse
Based on size: Point/Gross
Silent Mutations.
Leaky mutations.
Nonsense Mutations or
Chain termination Mutation etc.,
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Natural MutationFrequency of total mutations - 10 -7 to 10 -12/organism
(i.e., 0.0000001- 0.000000000001)Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001)
Eg., Tautomerism:-The ability of a molecule to exist in more than one chemical form
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Tautomerism
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Induced MutationInduced artificially by exposing them
(organisms) to abnormal environment.
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MutagensPhysical –Radiations: i. Ionizing-X-rays, gamma, Alpha,
Beeta, protons, nutrons etc.,
ii. Non Ionizing -UV
Temperature-
Chemical – Auerbach & Robson 1947
Base Analogues: 2,aminopurine, 5-bromourasil etc.,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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Biological Mutagens: H. Pylori
Hepatitis virus
H. papiloma virus
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Point Mutation / Gene MutationA 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. Since then mutations have been reported in E.
coli, Neurospora, Pea, Maize, Rodents, Fowls,
Man, etc.,
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Frame Shift MutationA 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.mutation.
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Frame Shift Mutation may be DeletionInsertion
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Substitution:- 1. Transition 2. Transversion
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Transversion
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Chemical MutagenesisMorgan 1934 – Drosophila with Alcohol
Chemicals: Activity can not be guessed based on
structure
Types:
Copy Errors by Base AnaloguesCopy Errors by Base Analogues
Direct Effect on DNA
Agents Producing Distorsions in DNA
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Copy Errors by Base Analogues
Eg.,
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Thymine 5 Bromouracil
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Direct Effect on DNAeg., Nitrous acid (HNO2), Hydroxylamine (NH2OH),Alkylating agents
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Guanine ���� Uracil =Adenine
Cytocin (NH2OH) ���� Modified Base=Adenine
Alkylating Agents:
EMS, EES, DES, etc., are extensively used in genetic research.
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Agents Producing Distortions in DNAEg., Acridine Orange & Proflavin
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��������
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Intercalation resulting in addition of the base
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Intercalation resulting in
deletion of the base
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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 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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Effect of radiation on DNA molecule
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Thymine Dimers
T=T ���� 50%
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T=T ���� 50%
T=C ���� 40%
C=C���� 10%
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Ionizing
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Acknowledgements
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PICTURES
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