A neutral explanation for the correlation of diversity with recombination rates in humans

Am J Hum Genet. 2003 Jun;72(6):1527-35. doi: 10.1086/375657. Epub 2003 May 8.


One of the most striking findings to emerge from the study of genomic patterns of variation is that regions with lower recombination rates tend to have lower levels of intraspecific diversity but not of interspecies divergence. This uncoupling of variation within and between species has been widely interpreted as evidence that natural selection shapes patterns of genetic variability genomewide. We revisited the relationship between diversity, divergence, and recombination in humans, using data from closely related species and better estimates of recombination rates than previously available. We show that regions that experience less recombination have reduced divergence to chimpanzee and to baboon, as well as lower levels of diversity. This observation suggests that mutation and recombination are associated processes in humans, so that the positive correlation between diversity and recombination may have a purely neutral explanation. Consistent with this hypothesis, diversity levels no longer increase significantly with recombination rates after correction for divergence to chimpanzee.

MeSH terms

  • Animals
  • Genetic Variation*
  • Genome, Human*
  • Humans
  • Linear Models
  • Models, Genetic*
  • Multivariate Analysis
  • Mutation
  • Pan troglodytes / genetics
  • Papio / genetics
  • Polymorphism, Genetic
  • Recombination, Genetic*
  • Statistics, Nonparametric