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Transcript
Mutations Categories of Mutations by Type • • • • • Deletions Inversions Insertions Duplications Point mutations – Change of a single nucleotide in the DNA • Nucleotide change – transition or transversion • Single nucleotide insertion • Single nucleotide deletion Categories of Mutations by Affect • Regulatory – Affect production or steady state levels of gene product • promoters, splicing sequences, ribosome binding sites • Structural (Coding) – Affect actual sequence of gene product • point mutations within coding sequence • Silent – a change in DNA sequence that has no detectable affect on gene expression or gene product function • SNP – single nucleotide polymorphisms Point Mutations in Coding Sequences Missense – changes amino acid Nonsense – creates stop codon Frameshift – alters remainder of reading frame results in completely different amino acid sequence. Base Changes • Transitions – – – – pyrimidine replaces pyrimidine - C to T or T to C purine replaces purine – G to A or A to G GC changed to A=T or vice versa Most common base change • Transversion – – – – – – – purine replaces pyrimidine or vice versa G to C or T A to C or T C to G or A T to G or A GC changed to CG or T=A Rare Tautomeric Shifts Lead to Transitions Figure 16.10 Tautomeric Base-Pairing Normal amino-A = keto-T amino-C keto-G Tautomeric imino-A = amino-C amino-A = imino-C enol-T keto-G keto-T enol-G Tautomeric Shifts Alter Base-Pairing Specificity Tautomer Figure 16.10 Modification of Bases by Alkylating Agents EMS – ethylmethane sulfonate DMS – Dimethyl sulfonate ENU - Ethylnitrosourea Alkylation Leads to Transitions Deamination leads to Transitions Oxidative DNA Damage Leads to Transversion Mutations free radicals Intercalation Leads to Insertions/Deletions Ionizing Radiation VIS DNA Damage Shortwave UV (UVA) Causes Thymidine Dimers X-rays & γ-rays Cause DNA Strand Breaks
