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

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Page 1: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

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

Page 2: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

Significance of Mutations

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Page 3: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

Sunday, December 30, 2018 www.hbmahesh.weebly.com 3

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

Page 4: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

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

Page 5: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

T.H.MorganT.H. Morgan 1910 Drosophila melanogaster

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Page 6: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

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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Page 7: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

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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Page 8: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

Tautomerism

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Page 9: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

Induced MutationInduced artificially by exposing them

(organisms) to abnormal environment.

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Page 10: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

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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Page 11: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

Biological Mutagens: H. Pylori

Hepatitis virus

H. papiloma virus

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Page 12: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

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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Page 13: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

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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Page 14: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

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Page 15: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

Frame Shift Mutation may be DeletionInsertion

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Page 16: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

Substitution:- 1. Transition 2. Transversion

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Page 17: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

Transversion

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Page 18: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

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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Page 19: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

Copy Errors by Base Analogues

Eg.,

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Thymine 5 Bromouracil

Page 20: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

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Page 21: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

Direct Effect on DNAeg., Nitrous acid (HNO2), Hydroxylamine (NH2OH),Alkylating agents

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Guanine ���� Uracil =Adenine

Page 22: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

Cytocin (NH2OH) ���� Modified Base=Adenine

Alkylating Agents:

EMS, EES, DES, etc., are extensively used in genetic research.

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Page 23: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

Agents Producing Distortions in DNAEg., Acridine Orange & Proflavin

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Page 24: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

��������

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Page 25: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

Intercalation resulting in addition of the base

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Page 26: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

Intercalation resulting in

deletion of the base

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Page 27: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

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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Page 28: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

Effect of radiation on DNA molecule

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Page 29: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

Thymine Dimers

T=T ���� 50%

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T=T ���� 50%

T=C ���� 40%

C=C���� 10%

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Page 31: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

Ionizing

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Page 32: MUTATION - DR. H.B. MAHESHA · Frequency of total mutations - 10-7to 10-12 /organism (i.e., 0.0000001- 0.000000000001 ) Frequency of detectable mutations – 1 in 10 6 (i.e., 0.000001

Acknowledgements

to

INTERNET

FOR

PICTURES

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