How well do we understand the basis of classic selective sweeps in humans?

被引:16
|
作者
Szpak, Michal [1 ]
Xue, Yali [1 ]
Ayub, Qasim [2 ,3 ]
Tyler-Smith, Chris [1 ]
机构
[1] Wellcome Sanger Inst, Wellcome Genome Campus, Hinxton CB10 1SA, Cambs, England
[2] Monash Univ Malaysia, Sch Sci, Bandar Sunway, Malaysia
[3] Monash Univ, Genom Facil, Trop Med & Biol Multidisciplinary Platform, Bandar Sunway, Malaysia
基金
英国惠康基金;
关键词
genome-wide selection scan; human evolution; positive selection; selected phenotype; selective force; CARNITINE PALMITOYLTRANSFERASE 1A; LACTASE-PERSISTENCE ALLELES; RECENT POSITIVE SELECTION; ECTODYSPLASIN-A RECEPTOR; GENOME-WIDE PATTERNS; NATURAL-SELECTION; SKIN COLOR; GENETIC INFLUENCES; MESSENGER-RNA; VITAMIN-D;
D O I
10.1002/1873-3468.13447
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Classic selective sweeps occur when positive selection increases a variant's frequency from low to high in a population, and underlie some long-studied human characteristics such as variation in skin, hair or eye colour. In such well-studied 'gold standard' examples, a known variant has been associated with a plausible phenotype and underlying selective force. Signatures of classic sweeps have more recently been detected in population-genetic data independently of any prior information about the corresponding phenotype or selective force, and usually without suggesting any insights into these. Motivated by the need to understand such candidates, we first review the gold standards and show that our understanding of them is often incomplete or unconvincing; only two of the examples we consider are compellingly explained. We assess approaches for large-scale association of classic sweep candidate variants to phenotypes and selective forces, test these on the gold standards, and discuss the standards of evidence needed to adequately understand a selective sweep.
引用
收藏
页码:1431 / 1448
页数:18
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