Human Population Differentiation Is Strongly Correlated with Local Recombination Rate

被引:67
作者
Keinan, Alon [1 ,2 ,3 ]
Reich, David [1 ,2 ]
机构
[1] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA
[2] Harvard & Massachusetts Inst Technol, Broad Inst, Cambridge, MA USA
[3] Cornell Univ, Dept Biol Stat & Computat Biol, Ithaca, NY USA
来源
PLOS GENETICS | 2010年 / 6卷 / 03期
关键词
X-LINKED LOCI; BACKGROUND SELECTION; LINKAGE DISEQUILIBRIUM; POSITIVE SELECTION; GENETIC DIVERSITY; NATURAL-SELECTION; DNA POLYMORPHISM; PATTERNS; VARIABILITY; DEMOGRAPHY;
D O I
10.1371/journal.pgen.1000886
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Allele frequency differences across populations can provide valuable information both for studying population structure and for identifying loci that have been targets of natural selection. Here, we examine the relationship between recombination rate and population differentiation in humans by analyzing two uniformly-ascertained, whole-genome data sets. We find that population differentiation as assessed by inter-continental F-ST shows negative correlation with recombination rate, with F-ST reduced by 10% in the tenth of the genome with the highest recombination rate compared with the tenth of the genome with the lowest recombination rate (P << 10(-12)). This pattern cannot be explained by the mutagenic properties of recombination and instead must reflect the impact of selection in the last 100,000 years since human continental populations split. The correlation between recombination rate and F-ST has a qualitatively different relationship for F-ST between African and non-African populations and for F-ST between European and East Asian populations, suggesting varying levels or types of selection in different epochs of human history.
引用
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页数:12
相关论文
共 70 条
[51]   Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21 [J].
Patil, N ;
Berno, AJ ;
Hinds, DA ;
Barrett, WA ;
Doshi, JM ;
Hacker, CR ;
Kautzer, CR ;
Lee, DH ;
Marjoribanks, C ;
McDonough, DP ;
Nguyen, BTN ;
Norris, MC ;
Sheehan, JB ;
Shen, NP ;
Stern, D ;
Stokowski, RP ;
Thomas, DJ ;
Trulson, MO ;
Vyas, KR ;
Frazer, KA ;
Fodor, SPA ;
Cox, DR .
SCIENCE, 2001, 294 (5547) :1719-1723
[52]  
Pluzhnikov A, 2002, GENETICS, V161, P1209
[53]   Positive selection can create false hotspots of recombination [J].
Reed, FA ;
Tishkoff, SA .
GENETICS, 2006, 172 (03) :2011-2014
[54]   Reconstructing Indian population history [J].
Reich, David ;
Thangaraj, Kumarasamy ;
Patterson, Nick ;
Price, Alkes L. ;
Singh, Lalji .
NATURE, 2009, 461 (7263) :489-U50
[55]   Genome-wide detection and characterization of positive selection in human populations [J].
Sabeti, Pardis C. ;
Varilly, Patrick ;
Fry, Ben ;
Lohmueller, Jason ;
Hostetter, Elizabeth ;
Cotsapas, Chris ;
Xie, Xiaohui ;
Byrne, Elizabeth H. ;
McCarroll, Steven A. ;
Gaudet, Rachelle ;
Schaffner, Stephen F. ;
Lander, Eric S. .
NATURE, 2007, 449 (7164) :913-U12
[56]   Variation after a selective sweep in a subdivided population [J].
Santiago, E ;
Caballero, A .
GENETICS, 2005, 169 (01) :475-483
[57]  
Smith JM, 2007, GENET RES, V89, P391, DOI [10.1017/S0016672308009579, 10.1017/S0016672300014634]
[58]   The influence of recombination on human genetic diversity [J].
Spencer, Chris C. A. ;
Deloukas, Panos ;
Hunt, Sarah ;
Mullikin, Jim ;
Myers, Simon ;
Silverman, Bernard W. ;
Donnelly, Peter ;
Bentley, David ;
McVean, Gil .
PLOS GENETICS, 2006, 2 (09) :1375-1385
[59]   REDUCED LEVELS OF DNA POLYMORPHISM AND FIXED BETWEEN-POPULATION DIFFERENCES IN THE CENTROMERIC REGION OF DROSOPHILA-ANANASSAE [J].
STEPHAN, W ;
MITCHELL, SJ .
GENETICS, 1992, 132 (04) :1039-1045
[60]   A test of the background selection hypothesis based on nucleotide data from Drosophila ananassae [J].
Stephan, W ;
Xing, L ;
Kirby, DA ;
Braverman, JM .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (10) :5649-5654