Heterozygosity and mutation rate: evidence for an interaction and its implications: the potential for meiotic gene conversions to influence both mutation rate and distribution

Bioessays. 2010 Jan;32(1):82-90. doi: 10.1002/bies.200900108.


If natural selection chose where new mutations occur it might well favour placing them near existing polymorphisms, thereby avoiding disruption of areas that work while adding novelty to regions where variation is tolerated or even beneficial. Such a system could operate if heterozygous sites are recognised and 'repaired' during the initial stages of crossing over. Such repairs involve an extra round of DNA replication, providing an opportunity for further mutations, thereby raising the local mutation rate. If so, the changes in heterozygosity that occur when populations grow or shrink could feed back to modulate both the rate and the distribution of mutations. Here, I review evidence from isozymes, microsatellites and single nucleotide polymorphisms that this potential is realised in real populations. I then consider the likely implications, focusing particularly on how these processes might affect microsatellites, concluding that heterozygosity does impact on the rate and distribution of mutations.

Publication types

  • Review

MeSH terms

  • Animals
  • Biological Evolution
  • Gene Conversion
  • Genetics, Population
  • Genomic Instability
  • Heterozygote*
  • Humans
  • Isoenzymes / genetics
  • Meiosis / genetics
  • Microsatellite Repeats
  • Models, Genetic*
  • Mutation*
  • Polymorphism, Single Nucleotide
  • Selection, Genetic


  • Isoenzymes