The landscape of recombination in African Americans

Details

• Alternative Title:
  Nature
• Personal Author:
  Hinch, Anjali G. ; Tandon, Arti ; Patterson, Nick ; Song, Yunli ; Rohland, Nadin ; Palmer, Cameron D. ; Chen, Gary K. ; Wang, Kai ; Buxbaum, Sarah G. ; Akylbekova, Meggie ; 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, Williams ; John, Esther M. ; Kao, W. H. Linda ; Keating, Brendan ; Kittles, Rick A. ; Kolonel, Laurence N. ; Larkin, Emma ; Le Marchand, Loic ; 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.
• Description:
  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.
• Subjects:
  Alleles Amino Acid Motifs Base Sequence Black Or African American Chromosome Mapping Crossing Over, Genetic Evolution, Molecular Female Gene Frequency Genetics, Population Genome, Human Genomics Haplotypes Histone-Lysine N-Methyltransferase Humans Male Molecular Sequence Data Pedigree Polymorphism, Single Nucleotide Probability White People

  More +
• Source:
  Nature. 476(7359):170-175.
• Pubmed ID:
  21775986
• Pubmed Central ID:
  PMC3154982
• Document Type:
  Journal Article
• Funding:
  ES011126/ES/NIEHS NIH HHS/United States ; CA54281/CA/NCI NIH HHS/United States ; CA55769/CA/NCI NIH HHS/United States ; ES06717/ES/NIEHS NIH HHS/United States ; U19 CA148127/CA/NCI NIH HHS/United States ; HG004168-03/HG/NHGRI NIH HHS/United States ; R01-CA73629/CA/NCI NIH HHS/United States ; CA77305/CA/NCI NIH HHS/United States ; R01 CA087895/CA/NCI NIH HHS/United States ; P30 ES010126/ES/NIEHS NIH HHS/United States ; RC2 CA148085/CA/NCI NIH HHS/United States ; ES007784/ES/NIEHS NIH HHS/United States ; R01 CA060691/CA/NCI NIH HHS/United States ; N01 HD033175/HD/NICHD NIH HHS/United States ; CA88164/CA/NCI NIH HHS/United States ; R01 ES006717/ES/NIEHS NIH HHS/United States ; U01 HG004168/HG/NHGRI NIH HHS/United States ; CA1326792/CA/NCI NIH HHS/United States ; P50 CA140388/CA/NCI NIH HHS/United States ; CA1116460/CA/NCI NIH HHS/United States ; R01 CA121197/CA/NCI NIH HHS/United States ; RC1 GM091332/GM/NIGMS NIH HHS/United States ; CA148127/CA/NCI NIH HHS/United States ; U01 HG004168-03/HG/NHGRI NIH HHS/United States ; CA141716/CA/NCI NIH HHS/United States ; CA121197S2/CA/NCI NIH HHS/United States ; R01 CA092447/CA/NCI NIH HHS/United States ; R01 CA073629/CA/NCI NIH HHS/United States ; CA127219/CA/NCI NIH HHS/United States ; HL084107-04/HL/NHLBI NIH HHS/United States ; R01 CA127219/CA/NCI NIH HHS/United States ; R01 HG006399/HG/NHGRI NIH HHS/United States ; HD33175/HD/NICHD NIH HHS/United States ; GM08016/GM/NIGMS NIH HHS/United States ; CA121197/CA/NCI NIH HHS/United States ; CA87895/CA/NCI NIH HHS/United States ; ES10126/ES/NIEHS NIH HHS/United States ; P50 CA058223/CA/NCI NIH HHS/United States ; R01 CA068578/CA/NCI NIH HHS/United States ; R01 CA100374/CA/NCI NIH HHS/United States ; HG004726/HG/NHGRI NIH HHS/United States ; CA68578/CA/NCI NIH HHS/United States ; HHSN268200960009C/PHS HHS/United States ; CA63464/CA/NCI NIH HHS/United States ; CA22453/CA/NCI NIH HHS/United States ; U58 DP000807/DP/NCCDPHP CDC HHS/United States ; Intramural NIH HHS/United States ; R01 HL084107/HL/NHLBI NIH HHS/United States ; R01 CA055769/CA/NCI NIH HHS/United States ; CA148085/CA/NCI NIH HHS/United States ; R01 CA063464/CA/NCI NIH HHS/United States ; CA060691/CA/NCI NIH HHS/United States ; R01 CA141716/CA/NCI NIH HHS/United States ; 090532/Wellcome Trust/United Kingdom ; CA100374/CA/NCI NIH HHS/United States ; N01HC65226/HL/NHLBI NIH HHS/United States ; P30 ES007784/ES/NIEHS NIH HHS/United States ; R01 CA054281/CA/NCI NIH HHS/United States ; P30 CA022453/CA/NCI NIH HHS/United States ; U01 CA063464/CA/NCI NIH HHS/United States ; P30 CA068485/CA/NCI NIH HHS/United States ; R01 CA088164/CA/NCI NIH HHS/United States ; CA140388/CA/NCI NIH HHS/United States ; N01PC35145/CA/NCI NIH HHS/United States ; CA092447/CA/NCI NIH HHS/United States ; CA100598/CA/NCI NIH HHS/United States ; CA1116460S1/CA/NCI NIH HHS/United States ; CA68485/CA/NCI NIH HHS/United States ; S06 GM008016/GM/NIGMS NIH HHS/United States ; HL084107/HL/NHLBI NIH HHS/United States ; R01 ES011126/ES/NIEHS NIH HHS/United States ; CA58223/CA/NCI NIH HHS/United States ; N01PC35139/CA/NCI NIH HHS/United States ; Wellcome Trust/United Kingdom ; GM091332/GM/NIGMS NIH HHS/United States ; R37 CA054281/CA/NCI NIH HHS/United States ; R01 HL084107-04/HL/NHLBI NIH HHS/United States ; R01 CA052689/CA/NCI NIH HHS/United States ; N01-HC-65226/HC/NHLBI NIH HHS/United States ; U01 HG004726/HG/NHGRI NIH HHS/United States ; R01 CA100598/CA/NCI NIH HHS/United States
• Place as Subject:
  Africa, Western ; Europe
• Volume:
  476
• Issue:
  7359
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha256:d0deebb278a3b006924b5a91a566917f112674c2afea52b06453f1f4ec66be41
• Download URL:
  https://stacks.cdc.gov/view/cdc/41840/cdc_41840_DS1.pdf
• File Type:
  [PDF - 898.37 KB ]