Abstract
Recombination, together with mutation, gives rise to genetic variation in populations. Here we leverage the recent mixture of people of African and European ancestry in the Americas to build a genetic map measuring the probability of crossing over at each position in the genome, based on about 2.1 million crossovers in 30,000 unrelated African Americans. At intervals of more than three megabases it is nearly identical to a map built in Europeans. At finer scales it differs significantly, and we identify about 2,500 recombination hotspots that are active in people of West African ancestry but nearly inactive in Europeans. The probability of a crossover at these hotspots is almost fully controlled by the alleles an individual carries at PRDM9 (P value < 10 -245). We identify a 17-base-pair DNA sequence motif that is enriched in these hotspots, and is an excellent match to the predicted binding target of PRDM9 alleles common in West Africans and rare in Europeans. Sites of this motif are predicted to be risk loci for disease-causing genomic rearrangements in individuals carrying these alleles. More generally, this map provides a resource for research in human genetic variation and evolution.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 170-175 |
| Number of pages | 6 |
| Journal | Nature |
| Volume | 476 |
| Issue number | 7359 |
| DOIs | |
| State | Published - Aug 11 2011 |
| Externally published | Yes |
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ASJC Scopus subject areas
- General
Cite this
The landscape of recombination in African Americans. / Hinch, Anjali G.; Tandon, Arti; Patterson, Nick; Song, Yunli; Rohland, Nadin; Palmer, Cameron D.; Chen, Gary K.; Wang, Kai; Buxbaum, Sarah G.; Akylbekova, Ermeg L.; Aldrich, Melinda C.; Ambrosone, Christine B.; Amos, Christopher; Bandera, Elisa V.; Berndt, Sonja I.; Bernstein, Leslie; Blot, William J.; Bock, Cathryn H.; Boerwinkle, Eric; Cai, Qiuyin; Caporaso, Neil; Casey, Graham; Cupples, L. Adrienne; Deming, Sandra L.; Diver, W. Ryan; Divers, Jasmin; Fornage, Myriam; Gillanders, Elizabeth M.; Glessner, Joseph; Harris, Curtis C.; Hu, Jennifer J.; Ingles, Sue A.; Isaacs, William; John, Esther M.; Kao, W. H Linda; Keating, Brendan; Kittles, Rick A; Kolonel, Laurence N.; Larkin, Emma; Marchand, Loic Le; McNeill, Lorna H.; Millikan, Robert C.; Murphy, Adam; Musani, Solomon; Neslund-Dudas, Christine; Nyante, Sarah; Papanicolaou, George J.; Press, Michael F.; Psaty, Bruce M.; Reiner, Alex P.; Rich, Stephen S.; Rodriguez-Gil, Jorge L.; Rotter, Jerome I.; Rybicki, Benjamin A.; Schwartz, Ann G.; Signorello, Lisa B.; Spitz, Margaret; Strom, Sara S.; Thun, Michael J.; Tucker, Margaret A.; Wang, Zhaoming; Wiencke, John K.; Witte, John S.; Wrensch, Margaret; Wu, Xifeng; Yamamura, Yuko; Zanetti, Krista A.; Zheng, Wei; Ziegler, Regina G.; Zhu, Xiaofeng; Redline, Susan; Hirschhorn, Joel N.; Henderson, Brian E.; Taylor, Herman A.; Price, Alkes L.; Hakonarson, Hakon; Chanock, Stephen J.; Haiman, Christopher A.; Wilson, James G.; Reich, David; Myers, Simon R.
In: Nature, Vol. 476, No. 7359, 11.08.2011, p. 170-175.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - The landscape of recombination in African Americans
AU - Hinch, Anjali G.
AU - Tandon, Arti
AU - Patterson, Nick
AU - Song, Yunli
AU - Rohland, Nadin
AU - Palmer, Cameron D.
AU - Chen, Gary K.
AU - Wang, Kai
AU - Buxbaum, Sarah G.
AU - Akylbekova, Ermeg L.
AU - Aldrich, Melinda C.
AU - Ambrosone, Christine B.
AU - Amos, Christopher
AU - Bandera, Elisa V.
AU - Berndt, Sonja I.
AU - Bernstein, Leslie
AU - Blot, William J.
AU - Bock, Cathryn H.
AU - Boerwinkle, Eric
AU - Cai, Qiuyin
AU - Caporaso, Neil
AU - Casey, Graham
AU - Cupples, L. Adrienne
AU - Deming, Sandra L.
AU - Diver, W. Ryan
AU - Divers, Jasmin
AU - Fornage, Myriam
AU - Gillanders, Elizabeth M.
AU - Glessner, Joseph
AU - Harris, Curtis C.
AU - Hu, Jennifer J.
AU - Ingles, Sue A.
AU - Isaacs, William
AU - John, Esther M.
AU - Kao, W. H Linda
AU - Keating, Brendan
AU - Kittles, Rick A
AU - Kolonel, Laurence N.
AU - Larkin, Emma
AU - Marchand, Loic Le
AU - McNeill, Lorna H.
AU - Millikan, Robert C.
AU - Murphy, Adam
AU - Musani, Solomon
AU - Neslund-Dudas, Christine
AU - Nyante, Sarah
AU - Papanicolaou, George J.
AU - Press, Michael F.
AU - Psaty, Bruce M.
AU - Reiner, Alex P.
AU - Rich, Stephen S.
AU - Rodriguez-Gil, Jorge L.
AU - Rotter, Jerome I.
AU - Rybicki, Benjamin A.
AU - Schwartz, Ann G.
AU - Signorello, Lisa B.
AU - Spitz, Margaret
AU - Strom, Sara S.
AU - Thun, Michael J.
AU - Tucker, Margaret A.
AU - Wang, Zhaoming
AU - Wiencke, John K.
AU - Witte, John S.
AU - Wrensch, Margaret
AU - Wu, Xifeng
AU - Yamamura, Yuko
AU - Zanetti, Krista A.
AU - Zheng, Wei
AU - Ziegler, Regina G.
AU - Zhu, Xiaofeng
AU - Redline, Susan
AU - Hirschhorn, Joel N.
AU - Henderson, Brian E.
AU - Taylor, Herman A.
AU - Price, Alkes L.
AU - Hakonarson, Hakon
AU - Chanock, Stephen J.
AU - Haiman, Christopher A.
AU - Wilson, James G.
AU - Reich, David
AU - Myers, Simon R.
PY - 2011/8/11
Y1 - 2011/8/11
N2 - Recombination, together with mutation, gives rise to genetic variation in populations. Here we leverage the recent mixture of people of African and European ancestry in the Americas to build a genetic map measuring the probability of crossing over at each position in the genome, based on about 2.1 million crossovers in 30,000 unrelated African Americans. At intervals of more than three megabases it is nearly identical to a map built in Europeans. At finer scales it differs significantly, and we identify about 2,500 recombination hotspots that are active in people of West African ancestry but nearly inactive in Europeans. The probability of a crossover at these hotspots is almost fully controlled by the alleles an individual carries at PRDM9 (P value < 10 -245). We identify a 17-base-pair DNA sequence motif that is enriched in these hotspots, and is an excellent match to the predicted binding target of PRDM9 alleles common in West Africans and rare in Europeans. Sites of this motif are predicted to be risk loci for disease-causing genomic rearrangements in individuals carrying these alleles. More generally, this map provides a resource for research in human genetic variation and evolution.
AB - Recombination, together with mutation, gives rise to genetic variation in populations. Here we leverage the recent mixture of people of African and European ancestry in the Americas to build a genetic map measuring the probability of crossing over at each position in the genome, based on about 2.1 million crossovers in 30,000 unrelated African Americans. At intervals of more than three megabases it is nearly identical to a map built in Europeans. At finer scales it differs significantly, and we identify about 2,500 recombination hotspots that are active in people of West African ancestry but nearly inactive in Europeans. The probability of a crossover at these hotspots is almost fully controlled by the alleles an individual carries at PRDM9 (P value < 10 -245). We identify a 17-base-pair DNA sequence motif that is enriched in these hotspots, and is an excellent match to the predicted binding target of PRDM9 alleles common in West Africans and rare in Europeans. Sites of this motif are predicted to be risk loci for disease-causing genomic rearrangements in individuals carrying these alleles. More generally, this map provides a resource for research in human genetic variation and evolution.
UR - http://www.scopus.com/inward/record.url?scp=80051679387&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=80051679387&partnerID=8YFLogxK
U2 - 10.1038/nature10336
DO - 10.1038/nature10336
M3 - Article
C2 - 21775986
AN - SCOPUS:80051679387
VL - 476
SP - 170
EP - 175
JO - Nature
JF - Nature
SN - 0028-0836
IS - 7359
ER -