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首页> 外文期刊>Human Molecular Genetics >Targeted resequencing of two genes, RAGE and POLL, confirms findings from a genome-wide scan for adaptive evolution and provides evidence for positive selection in additional populations.
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Targeted resequencing of two genes, RAGE and POLL, confirms findings from a genome-wide scan for adaptive evolution and provides evidence for positive selection in additional populations.

机译：RAGE和POLL这两个基因的靶向重测序证实了全基因组扫描中适应性进化的发现，并提供了在其他种群中进行阳性选择的证据。

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摘要

The availability of multiple genome-wide human polymorphism datasets has led to an increase in efforts to scan the genome for signals of positive selection. As a result, the number of loci in the human genome predicted to be adaptively evolving increases monthly. Yet, these numerous genome-wide scans have identified minimally overlapping sets of candidate loci, potentially due to biases in genotype versus sequence data or power of statistical tests to detect selection in different time frames. Because of these issues, a critical step is to confirm the evidence for positive selection through direct sequencing. In this study, we describe the resequencing and analysis of two loci, RAGE and POLL, that were identified by a recent genome-wide scan of the Perlegen data to be under selection in the Han Chinese population. By resequencing these loci in additional populations, we have found that the evolutionary history of these regions is more complex than observed in the initial genome-wide scan and that the sweep patterns are shared across several populations. The resequencing data provide evidence for selection on RAGE in the non-African populations and on POLL in the Asian and Sub-Saharan African populations. In addition to confirming the signatures of selection from the genome-wide scan, direct resequencing reveals more extensive patterns of selection than the genotype data.
机译：多个全基因组人类多态性数据集的可用性导致扫描基因组以寻找阳性选择信号的工作有所增加。结果，被预测为适应性进化的人类基因组中的基因座数目每月增加。然而，这些众多的全基因组扫描已识别出候选基因座的最小重叠集，这可能是由于基因型与序列数据的偏倚或统计测试在不同时间范围内检测选择的能力所致。由于这些问题，关键的一步是通过直接测序来确认阳性选择的证据。在这项研究中，我们描述了两个基因座RAGE和POLL的重测序和分析，这两个基因座是由最近在Perlegen数据上进行全基因组扫描的汉族人群中选择的。通过在其他种群中对这些基因座进行重测序，我们发现这些区域的进化史比在最初的全基因组扫描中观察到的更为复杂，并且扫描模式在多个种群中共享。重测序数据为选择非非洲人群的RAGE和亚洲及撒哈拉以南非洲人群的POLL提供了证据。除了从全基因组扫描确认选择的特征外，直接重测序还揭示了比基因型数据更广泛的选择模式。

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