Gene expression drives local adaptation in humans.

Gene expression drives local adaptation in humans.
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DOI:
10.1101/gr.152710.112
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发表时间:
2013-07
期刊:
影响因子:
7
通讯作者:
Fraser HB
Fraser HB
中科院分区:
生物学1区
文献类型:
--
作者:
Fraser HB

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适应的分子基础,特别是蛋白质编码和基因表达变化的相对作用,长期以来一直是猜测和争论的主题。最近,对不同人类种群的基因分型已经确定了许多假定的种群间不同的“局部适应”。在这里,我展示了这些局部适应比氨基酸序列更有可能影响基因表达的10倍。此外,一个鉴定多基因局部适应的新框架检测了参与紫外线辐射应答、免疫细胞增殖和糖尿病相关途径的基因表达水平上的近期积极选择。这些结果提供了人类多基因基因表达适应的第一个例子,也为基因表达变化驱动人类适应的假设提供了第一个基因组规模的支持。
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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