Similarity in recombination rate estimates highly correlates with genetic differentiation in humans

Laayouni, Hafid, 1968-; Montanucci, Ludovica, 1978-; Sikora, Martin, 1976-; Melé Messeguer, Marta, 1982-; Dall'Olio, Giovanni Marco, 1983-; Lorente-Galdós, Belén, 1981-; McGee, Kate M; Graffelman, Jan; Awadalla, Philip; Bosch Fusté, Elena; Comas, David, 1969-; Navarro i Cuartiellas, Arcadi, 1969-; Calafell i Majó, Francesc; Casals López, Ferran; Bertranpetit, Jaume, 1952-

doi:http://dx.doi.org/10.1371/journal.pone.0017913

Similarity in recombination rate estimates highly correlates with genetic differentiation in humans

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Laayouni H, Montanucci L, Sikora M, Mele M, Dall'Olio GM, Lorente-Galdos B et al. Similarity in recombination rate estimates highly correlates with genetic differentiation in humans. PLoS ONE. 2011;6(3):e17913. DOI: 10.1371/journal.pone.0017913

Abstract

Recombination varies greatly among species, as illustrated by the poor conservation of the recombination landscape between humans and chimpanzees. Thus, shorter evolutionary time frames are needed to understand the evolution of recombination. Here, we analyze its recent evolution in humans. We calculated the recombination rates between adjacent pairs of 636,933 common single-nucleotide polymorphism loci in 28 worldwide human populations and analyzed them in relation to genetic distances between populations. We found a strong and highly significant correlation between similarity in the recombination rates corrected for effective population size and genetic differentiation between populations. This correlation is observed at the genome-wide level, but also for each chromosome and when genetic distances and recombination similarities are calculated independently from different parts of the genome. Moreover, and more relevant, this relationship is robustly maintained when considering presence/absence of recombination hotspots. Simulations show that this correlation cannot be explained by biases in the inference of recombination rates caused by haplotype sharing among similar populations. This result indicates a rapid pace of evolution of recombination, within the time span of differentiation of modern humans