Classic Selective Sweeps Were Rare in Recent Human Evolution

被引:303
作者
Hernandez, Ryan D. [1 ]
Kelley, Joanna L. [1 ]
Elyashiv, Eyal [2 ]
Melton, S. Cord [1 ]
Auton, Adam [3 ]
McVean, Gilean [3 ,4 ]
Sella, Guy [2 ]
Przeworski, Molly [1 ,5 ,6 ]
机构
[1] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA
[2] Hebrew Univ Jerusalem, Dept Ecol Evolut & Behav, IL-91904 Jerusalem, Israel
[3] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
[4] Univ Oxford, Dept Stat, Oxford OX1 3TG, England
[5] Univ Chicago, Dept Ecol & Evolut, Chicago, IL 60637 USA
[6] Univ Chicago, Howard Hughes Med Inst, Chicago, IL 60637 USA
基金
英国惠康基金;
关键词
POSITIVE SELECTION; NATURAL-SELECTION; DELETERIOUS MUTATIONS; SOFT SWEEPS; ADAPTATION; POLYMORPHISM; DIVERSITY; SIGNATURE; GENETICS; SIZE;
D O I
10.1126/science.1198878
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Efforts to identify the genetic basis of human adaptations from polymorphism data have sought footprints of "classic selective sweeps" (in which a beneficial mutation arises and rapidly fixes in the population). Yet it remains unknown whether this form of natural selection was common in our evolution. We examined the evidence for classic sweeps in resequencing data from 179 human genomes. As expected under a recurrent-sweep model, we found that diversity levels decrease near exons and conserved noncoding regions. In contrast to expectation, however, the trough in diversity around human-specific amino acid substitutions is no more pronounced than around synonymous substitutions. Moreover, relative to the genome background, amino acid and putative regulatory sites are not significantly enriched in alleles that are highly differentiated between populations. These findings indicate that classic sweeps were not a dominant mode of human adaptation over the past similar to 250,000 years.
引用
收藏
页码:920 / 924
页数:5
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