Mutation

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Point mutation
Point mutation
Chromosome rearrangement:  a) placement of strong enhancer nearby causes overproduction of normal protein.  OR  b) fusion to another actively transcribed gene results in either increased levels of the fusion product (normal activity overproduced) or the fusion product is hyperactive (increased activity in normal amounts)     Gene amplification: normal protein produced in much higher amounts     Deletion or point mutation in coding sequence: constitutively active protein produced in normal amounts
Chromosome rearrangement: a) placement of strong enhancer nearby causes overproduction of normal protein.

OR

b) fusion to another actively transcribed gene results in either increased levels of the fusion product (normal activity overproduced) or the fusion product is hyperactive (increased activity in normal amounts)
Gene amplification: normal protein produced in much higher amounts
Gene amplification: normal protein produced in much higher amounts
Deletion or point mutation in coding sequence: constitutively active protein produced in normal amounts
Deletion or point mutation in coding sequence: constitutively active protein produced in normal amounts

A mutation is a change in the nucleotide sequence of the genetic nucleic acid, which may result in an alteration in the product/s coded for by the gene.

Cause

  • Spontaneous
    • Natural radiation
    • Replication errors
  • Induced
    • Mutagens

Types

  • Point mutation
    • Base-pair substitution
    • Microinsertion/microdeletion
  • Large-scale mutation
    • Deletion
    • Duplication
    • Inversion
    • Translocation

See also


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