Variation in the mutation rate across mammalian genomes

Nat Rev Genet. 2011 Oct 4;12(11):756-66. doi: 10.1038/nrg3098.


It has been known for many years that the mutation rate varies across the genome. However, only with the advent of large genomic data sets is the full extent of this variation becoming apparent. The mutation rate varies over many different scales, from adjacent sites to whole chromosomes, with the strongest variation seen at the smallest scales. Some of these patterns have clear mechanistic bases, but much of the rate variation remains unexplained, and some of it is deeply perplexing. Variation in the mutation rate has important implications in evolutionary biology and underexplored implications for our understanding of hereditary disease and cancer.

Publication types

  • Review

MeSH terms

  • Animals
  • CpG Islands*
  • Humans
  • Mammals / genetics*
  • Mutation Rate*
  • Polymorphism, Single Nucleotide
  • Sex Chromosomes