Population Demographic History Can Cause the Appearance of Recombination Hotspots

Am J Hum Genet. 2012 May 4;90(5):774-83. doi: 10.1016/j.ajhg.2012.03.011.


Although the prevailing view among geneticists suggests that recombination hotspots exist ubiquitously across the human genome, there is only limited experimental evidence from a few genomic regions to support the generality of this claim. A small number of true recombination hotspots are well supported experimentally, but the vast majority of hotspots have been identified on the basis of population genetic inferences from the patterns of linkage disequilibrium (LD) seen in the human population. These inferences are made assuming a particular model of human history, and one of the assumptions of that model is that the effective population size of humans has remained constant throughout our history. Our results show that relaxation of the constant population size assumption can create LD and variation patterns that are qualitatively and quantitatively similar to human populations without any need to invoke localized hotspots of recombination. In other words, apparent recombination hotspots could be an artifact of variable population size over time. Several lines of evidence suggest that the vast majority of hotspots identified on the basis of LD information are unlikely to have elevated recombination rates.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Computer Simulation
  • Demography*
  • Genetic Markers
  • Genetics, Population*
  • Genome, Human
  • Humans
  • Linkage Disequilibrium
  • Models, Biological
  • Polymorphism, Single Nucleotide
  • Population Density
  • Recombination, Genetic*


  • Genetic Markers