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Mutations

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Mutations

Protein synthesis summary

A C C CTA A A AG G TDNA

C CG G GA AUU U U UmRNA

transcriptionnucleus

GlySerPheTrp PROTEIN

translationCytoplasm: ribosome

Definition: A mutation is…

A change in the arrangement of bases in an individual gene or in the structure of the chromosome (which changes the arrangement of genes).

Page 4: Mutations. A C CC T A A AA G G T DNA C C G G G A A U U UUU mRNA transcription nucleus Gly Ser Phe Trp PROTEIN translation Cytoplasm: ribosome

Frequency and repair of mutations

Mutations can occur in gametes and somatic cells.

Chance of mutation is between 2-30 x 10-7

Faulty DNA can be repaired by specific enzymes.

Unrepaired mutations will affect the new proteins being synthesised

Page 5: Mutations. A C CC T A A AA G G T DNA C C G G G A A U U UUU mRNA transcription nucleus Gly Ser Phe Trp PROTEIN translation Cytoplasm: ribosome

Val

Point mutations are caused by: Changes in an individual gene due to

miscopying of one or more nucleotides.

Deletion or insertion of a nucleotide results in a frameshift:

C A T G C G T C A G A TA

Codon 1 Codon 2 Codon 3 Codon 4

Tyr Ala Ser LeuArg

Page 6: Mutations. A C CC T A A AA G G T DNA C C G G G A A U U UUU mRNA transcription nucleus Gly Ser Phe Trp PROTEIN translation Cytoplasm: ribosome

Point mutations

Substitution mutations result in a change of one base:

T A C G T G A A A C G G C A T

Met His Phe Ala Val

Leu

Page 7: Mutations. A C CC T A A AA G G T DNA C C G G G A A U U UUU mRNA transcription nucleus Gly Ser Phe Trp PROTEIN translation Cytoplasm: ribosome

Chromosomal mutations

Gene deletion:

A B C D E

Gene duplication:

EC DBA C DC DBA E

Page 8: Mutations. A C CC T A A AA G G T DNA C C G G G A A U U UUU mRNA transcription nucleus Gly Ser Phe Trp PROTEIN translation Cytoplasm: ribosome

Chromosome mutations

Inversion:

C DBA E

Translocation:

BA C D E

WX ZY

Page 9: Mutations. A C CC T A A AA G G T DNA C C G G G A A U U UUU mRNA transcription nucleus Gly Ser Phe Trp PROTEIN translation Cytoplasm: ribosome

Whole-chromosome mutations

An entire chromosome is lost or repeated during cell division.

Example:Downs syndrome is caused by having an extra chromosme 21.

Page 10: Mutations. A C CC T A A AA G G T DNA C C G G G A A U U UUU mRNA transcription nucleus Gly Ser Phe Trp PROTEIN translation Cytoplasm: ribosome

The effect of mutations

Production of new/superior protein:Results: gain of reproductive advantage

Neutral mutation:Result: No change

Production of inferior or no protein:Result: Fatal and/or disease causing.

Page 11: Mutations. A C CC T A A AA G G T DNA C C G G G A A U U UUU mRNA transcription nucleus Gly Ser Phe Trp PROTEIN translation Cytoplasm: ribosome

Causes of mutations

Mutagens such as:

X-rays

ionising radiation

chemicals

Page 12: Mutations. A C CC T A A AA G G T DNA C C G G G A A U U UUU mRNA transcription nucleus Gly Ser Phe Trp PROTEIN translation Cytoplasm: ribosome

Summary

Define the term:

somatic

mutation

deletion

insertion

duplication

inversion

translocation

Down’s syndrome

mutagen

Page 13: Mutations. A C CC T A A AA G G T DNA C C G G G A A U U UUU mRNA transcription nucleus Gly Ser Phe Trp PROTEIN translation Cytoplasm: ribosome

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