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Learning objectives: Lecture 8

Be able to describe the main forms of mutations, how they can be caused, how they affect DNA during replication and how they affect protein sequence

  • Point mutations/single nucleotide polymorphisms
  • Small insertions and deletions (indels)
  • Large scale mutations

Understand the difference between a transition and transversion and which is more common

Define and understand the difference between synonymous and non-synonymous mutations

Understand and be able to describe how DNA damage causes mutations

  • Deamination
  • Depurination
  • Oxidation
  • Alkylation Radiation

For the following mechanisms, understand/describe:

  • The steps of the mechanism
  • The proteins involved at each step
  • The outcome of the mechanism

Mechanisms:

  • Direct repair
  • Base excision repair
  • Nucleotide excision repair
  • Mismatch repair

For mechanisms, think about what would happen if you removed the functionality of each of the proteins.

Updated Sun May 10 2026, 18:54 by sasneddo.