Gene expression drives local adaptation in humans

The molecular basis of adaptation—and, in particular, the relative roles of protein-coding versus gene expression changes—has long been the subject of speculation and debate. Recently, the genotyping of diverse human populations has led to the identification of many putative “local adaptations” that...

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Bibliographic Details
Published inGenome research Vol. 23; no. 7; pp. 1089 - 1096
Main Author Fraser, Hunter B.
Format Journal Article
LanguageEnglish
Published United States Cold Spring Harbor Laboratory Press 01.07.2013
Subjects
Adaptation, Biological - genetics
Cell Line
DNA Damage
Gene Expression
Gene Expression Regulation
Humans
Polymorphism, Single Nucleotide
Regulatory Sequences, Nucleic Acid
Selection, Genetic
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Summary:The molecular basis of adaptation—and, in particular, the relative roles of protein-coding versus gene expression changes—has long been the subject of speculation and debate. Recently, the genotyping of diverse human populations has led to the identification of many putative “local adaptations” that differ between populations. Here I show that these local adaptations are over 10-fold more likely to affect gene expression than amino acid sequence. In addition, a novel framework for identifying polygenic local adaptations detects recent positive selection on the expression levels of genes involved in UV radiation response, immune cell proliferation, and diabetes-related pathways. These results provide the first examples of polygenic gene expression adaptation in humans, as well as the first genome-scale support for the hypothesis that changes in gene expression have driven human adaptation.
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content type line 23
ISSN:1088-9051
1549-5469
1549-5469
DOI:10.1101/gr.152710.112