Population demographic history can cause the appearance of recombination hotspots.

American Journal of Human Genetics
Henry R Johnston, David J Cutler

Abstract

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.

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Citations

Feb 28, 2013·BMC Genetics·Murray P CoxJan Schmid
Apr 30, 2013·PloS One·Henry R Johnston, David J Cutler
Oct 19, 2017·Molecular Biology and Evolution·Amy L Dapper, Bret A Payseur
Jan 23, 2019·Molecular Ecology Resources·Philipp HermannAndreas Futschik
May 27, 2016·G3 : Genes - Genomes - Genetics·Jeffrey D Wall, Laurie S Stevison
Nov 30, 2020·European Journal of Human Genetics : EJHG·Shabbeer HassanSamuli Ripatti
Jan 15, 2021·Human Molecular Genetics·Gerald van EedenBrenna M Henn

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