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          Institute: MPI für evolutionäre Anthropologie     Collection: Publications MPI for Evolutionary Anthropology     Display Documents

ID: 251105.0, MPI für evolutionäre Anthropologie / Publications MPI for Evolutionary Anthropology
Absence of the TAP2 Human Recombination Hotspot in Chimpanzees
Authors:Ptak, Susan E.; Roeder, Amy D.; Stephens, Matthew; Gilad, Yoav; Pääbo, Svante; Przeworski, Molly
Date of Publication (YYYY-MM-DD):2004-07
Title of Journal:PLoS Biology
Journal Abbrev.:PLoS Biol
Issue / Number:6
Start Page:0849
End Page:0855
Copyright:© 2004 Ptak et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Review Status:not specified
Audience:Not Specified
Abstract / Description:Recent experiments using sperm typing have demonstrated that, in several regions of the human genome, recombination does not occur uniformly but instead is concentrated in “hotspots” of 1–2 kb. Moreover, the crossover asymmetry observed in a subset of these has led to the suggestion that hotspots may be short-lived on an evolutionary time scale. To test this possibility, we focused on a region known to contain a recombination hotspot in humans, TAP2, and asked whether chimpanzees, the closest living evolutionary relatives of humans, harbor a hotspot in a similar location. Specifically, we used a new statistical approach to estimate recombination rate variation from patterns of linkage disequilibrium in a sample of 24 western chimpanzees (Pan troglodytes verus). This method has been shown to produce reliable results on simulated data and on human data from the TAP2 region. Strikingly, however, it finds very little support for recombination rate variation at TAP2 in the western chimpanzee data. Moreover, simulations suggest that there should be stronger support if there were a hotspot similar to the one characterized in humans. Thus, it appears that the human TAP2 recombination hotspot is not shared by western chimpanzees. These findings demonstrate that fine-scale recombination rates can change between very closely related species and raise the possibility that rates differ among human populations, with important implications for linkage-disequilibrium based association studies.
External Publication Status:published
Document Type:Article
Communicated by:Gisela Lausberg
Affiliations:MPI für evolutionäre Anthropologie/Department of Evolutionary Genetics
External Affiliations:Department of Statistics, University of Washington, Seattle, Washington, United States of America
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