title: The landscape of recombination in African Americans.
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.
authors.affiliation: Wellcome Trust Centre for Human Genetics, Oxford University, Roosevelt Drive, Oxford OX3 7BN, UK.
authors.forename: Anjali G
authors.initials: AG
authors.lastname: Hinch
authors.forename: Arti
authors.initials: A
authors.lastname: Tandon
authors.forename: Nick
authors.initials: N
authors.lastname: Patterson
authors.forename: Yunli
authors.initials: Y
authors.lastname: Song
authors.forename: Nadin
authors.initials: N
authors.lastname: Rohland
authors.forename: Cameron D
authors.initials: CD
authors.lastname: Palmer
authors.forename: Gary K
authors.initials: GK
authors.lastname: Chen
authors.forename: Kai
authors.initials: K
authors.lastname: Wang
authors.forename: Sarah G
authors.initials: SG
authors.lastname: Buxbaum
authors.forename: Ermeg L
authors.initials: EL
authors.lastname: Akylbekova
authors.forename: Melinda C
authors.initials: MC
authors.lastname: Aldrich
authors.forename: Christine B
authors.initials: CB
authors.lastname: Ambrosone
authors.forename: Christopher
authors.initials: C
authors.lastname: Amos
authors.forename: Elisa V
authors.initials: EV
authors.lastname: Bandera
authors.forename: Sonja I
authors.initials: SI
authors.lastname: Berndt
authors.forename: Leslie
authors.initials: L
authors.lastname: Bernstein
authors.forename: William J
authors.initials: WJ
authors.lastname: Blot
authors.forename: Cathryn H
authors.initials: CH
authors.lastname: Bock
authors.forename: Eric
authors.initials: E
authors.lastname: Boerwinkle
authors.forename: Qiuyin
authors.initials: Q
authors.lastname: Cai
authors.forename: Neil
authors.initials: N
authors.lastname: Caporaso
authors.forename: Graham
authors.initials: G
authors.lastname: Casey
authors.forename: L Adrienne
authors.initials: LA
authors.lastname: Cupples
authors.forename: Sandra L
authors.initials: SL
authors.lastname: Deming
authors.forename: W Ryan
authors.initials: WR
authors.lastname: Diver
authors.forename: Jasmin
authors.initials: J
authors.lastname: Divers
authors.forename: Myriam
authors.initials: M
authors.lastname: Fornage
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: Gillanders
authors.forename: Joseph
authors.initials: J
authors.lastname: Glessner
authors.forename: Curtis C
authors.initials: CC
authors.lastname: Harris
authors.forename: Jennifer J
authors.initials: JJ
authors.lastname: Hu
authors.forename: Sue A
authors.initials: SA
authors.lastname: Ingles
authors.forename: William
authors.initials: W
authors.lastname: Isaacs
authors.forename: Esther M
authors.initials: EM
authors.lastname: John
authors.forename: W H Linda
authors.initials: WH
authors.lastname: Kao
authors.forename: Brendan
authors.initials: B
authors.lastname: Keating
authors.forename: Rick A
authors.initials: RA
authors.lastname: Kittles
authors.forename: Laurence N
authors.initials: LN
authors.lastname: Kolonel
authors.forename: Emma
authors.initials: E
authors.lastname: Larkin
authors.forename: Loic
authors.initials: L
authors.lastname: Le Marchand
authors.forename: Lorna H
authors.initials: LH
authors.lastname: McNeill
authors.forename: Robert C
authors.initials: RC
authors.lastname: Millikan
authors.forename: Adam
authors.initials: A
authors.lastname: Murphy
authors.forename: Solomon
authors.initials: S
authors.lastname: Musani
authors.forename: Christine
authors.initials: C
authors.lastname: Neslund-Dudas
authors.forename: Sarah
authors.initials: S
authors.lastname: Nyante
authors.forename: George J
authors.initials: GJ
authors.lastname: Papanicolaou
authors.forename: Michael F
authors.initials: MF
authors.lastname: Press
authors.forename: Bruce M
authors.initials: BM
authors.lastname: Psaty
authors.forename: Alex P
authors.initials: AP
authors.lastname: Reiner
authors.forename: Stephen S
authors.initials: SS
authors.lastname: Rich
authors.forename: Jorge L
authors.initials: JL
authors.lastname: Rodriguez-Gil
authors.forename: Jerome I
authors.initials: JI
authors.lastname: Rotter
authors.forename: Benjamin A
authors.initials: BA
authors.lastname: Rybicki
authors.forename: Ann G
authors.initials: AG
authors.lastname: Schwartz
authors.forename: Lisa B
authors.initials: LB
authors.lastname: Signorello
authors.forename: Margaret
authors.initials: M
authors.lastname: Spitz
authors.forename: Sara S
authors.initials: SS
authors.lastname: Strom
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Thun
authors.forename: Margaret A
authors.initials: MA
authors.lastname: Tucker
authors.forename: Zhaoming
authors.initials: Z
authors.lastname: Wang
authors.forename: John K
authors.initials: JK
authors.lastname: Wiencke
authors.forename: John S
authors.initials: JS
authors.lastname: Witte
authors.forename: Margaret
authors.initials: M
authors.lastname: Wrensch
authors.forename: Xifeng
authors.initials: X
authors.lastname: Wu
authors.forename: Yuko
authors.initials: Y
authors.lastname: Yamamura
authors.forename: Krista A
authors.initials: KA
authors.lastname: Zanetti
authors.forename: Wei
authors.initials: W
authors.lastname: Zheng
authors.forename: Regina G
authors.initials: RG
authors.lastname: Ziegler
authors.forename: Xiaofeng
authors.initials: X
authors.lastname: Zhu
authors.forename: Susan
authors.initials: S
authors.lastname: Redline
authors.forename: Joel N
authors.initials: JN
authors.lastname: Hirschhorn
authors.forename: Brian E
authors.initials: BE
authors.lastname: Henderson
authors.forename: Herman A
authors.initials: HA
authors.lastname: Taylor
authors.forename: Alkes L
authors.initials: AL
authors.lastname: Price
authors.forename: Hakon
authors.initials: H
authors.lastname: Hakonarson
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: Chanock
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Haiman
authors.forename: James G
authors.initials: JG
authors.lastname: Wilson
authors.forename: David
authors.initials: D
authors.lastname: Reich
authors.forename: Simon R
authors.initials: SR
authors.lastname: Myers
mesh_terms: D000354:Africa, Western / Q000208:ethnology; D001741:Black or African American / Q000235:genetics*; D000483:Alleles; D020816:Amino Acid Motifs; D001483:Base Sequence; D002874:Chromosome Mapping; D003434:Crossing Over, Genetic / Q000235:genetics*; D005060:Europe / Q000208:ethnology; D019143:Evolution, Molecular; D005260:Female; D005787:Gene Frequency; D005828:Genetics, Population; D015894:Genome, Human / Q000235:genetics*; D023281:Genomics; D006239:Haplotypes / Q000235:genetics; D011495:Histone-Lysine N-Methyltransferase / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011336:Probability; D044465:White People / Q000235:genetics
chemical_list: D011495:Histone-Lysine N-Methyltransferase; C544431:PRDM9 protein, human