Positive selection in the human genome: From genome scans to biological significance

被引：65

作者：

Kelley, Joanna L. ^{[1
]}

Swanson, Willie J. ^{[2
]}

机构：

[1] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA

[2] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

来源：

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS | 2008年 / 9卷

关键词：

adaptive evolution; population differentiation; amylase; FOXP2; lactase; Neanderthal;

D O I：

10.1146/annurev.genom.9.081307.164411

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Here we review the evidence for positive selection in the human genome and its role in human evolution and population differentiation. In recent years, there has been a dramatic increase in the use of genome-wide scans to identify adaptively evolving loci in the human genome. Attention is now turning to understanding the biological relevance and adaptive significance of the regions identified as being subject to recent positive selection. Examples of adaptively evolving loci are discussed, specifically LCT and FOXP2. Comprehensive studies of these loci also provide information about the functional relevance of the selected alleles. We discuss current studies examining the role of positive selection in shaping copy number variation and noncoding genomic regions and highlight challenges presented by the study of positive selection in the human genome.

引用

页码：143 / 160

页数：18

共 97 条

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