mutation

Scally A & Durbin R 2012 Revising the human mutation rate: implications for understanding human evolution. Nat Rev Genet 13:745-753.

  • comparison of the sequence divergence between humans and macaques with fossil evidence for the split between apes and Old World monkeys1 gives a phylogenetic rate estimate of approximately 10−9 bp−1 year−1
  • recent analyses of de novo mutations in modern humans, some facilitated by developments in genome-sequencing technology, have produced genome-wide estimates of the per-generation mutation rate averaging at ~1.2 × 10−8 bp−1 generation−1
  • similar analyses focusing on mutations in exomes and dominant disease loci have produced an average rate of 1.38 × 10−8 bp−1 generation−1
  • a plausible range of generation times between 20 and 30 years would correspond to a range of mutation rates between 0.4 × 10−9 and 0.6 × 10−9 bp−1 year−1
  • there has been a decrease in mutation rate per year within the great apes since their divergence from other primates
  • evidence has previously been seen for shorter phylogenetic branch lengths within the apes
  • this is referred to as the hominoid slowdown