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Absence of the TAP2 Human Recombination Hotspot in Chimpanzees

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 ma...

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Autores principales: Ptak, Susan E, Roeder, Amy D, Stephens, Matthew, Gilad, Yoav, Pääbo, Svante, Przeworski, Molly
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2004
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC423135/
https://www.ncbi.nlm.nih.gov/pubmed/15208713
http://dx.doi.org/10.1371/journal.pbio.0020155
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author Ptak, Susan E
Roeder, Amy D
Stephens, Matthew
Gilad, Yoav
Pääbo, Svante
Przeworski, Molly
author_facet Ptak, Susan E
Roeder, Amy D
Stephens, Matthew
Gilad, Yoav
Pääbo, Svante
Przeworski, Molly
author_sort Ptak, Susan E
collection PubMed
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.
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spelling pubmed-4231352004-06-17 Absence of the TAP2 Human Recombination Hotspot in Chimpanzees Ptak, Susan E Roeder, Amy D Stephens, Matthew Gilad, Yoav Pääbo, Svante Przeworski, Molly PLoS Biol Research Article 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. Public Library of Science 2004-06 2004-06-15 /pmc/articles/PMC423135/ /pubmed/15208713 http://dx.doi.org/10.1371/journal.pbio.0020155 Text en Copyright: © 2004 Ptak et al. http://creativecommons.org/licenses/by/4.0/ 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 author and source are properly credited.
spellingShingle Research Article
Ptak, Susan E
Roeder, Amy D
Stephens, Matthew
Gilad, Yoav
Pääbo, Svante
Przeworski, Molly
Absence of the TAP2 Human Recombination Hotspot in Chimpanzees
title Absence of the TAP2 Human Recombination Hotspot in Chimpanzees
title_full Absence of the TAP2 Human Recombination Hotspot in Chimpanzees
title_fullStr Absence of the TAP2 Human Recombination Hotspot in Chimpanzees
title_full_unstemmed Absence of the TAP2 Human Recombination Hotspot in Chimpanzees
title_short Absence of the TAP2 Human Recombination Hotspot in Chimpanzees
title_sort absence of the tap2 human recombination hotspot in chimpanzees
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC423135/
https://www.ncbi.nlm.nih.gov/pubmed/15208713
http://dx.doi.org/10.1371/journal.pbio.0020155
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