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Recent population genomic insights into the genetic basis of arsenic tolerance in humans: the difficulties of identifying positively selected loci in strongly bottlenecked populations
Heredity ( IF 3.1 ) Pub Date : 2019-11-27 , DOI: 10.1038/s41437-019-0285-0 Mario Apata 1 , Susanne P Pfeifer 1
Heredity ( IF 3.1 ) Pub Date : 2019-11-27 , DOI: 10.1038/s41437-019-0285-0 Mario Apata 1 , Susanne P Pfeifer 1
Affiliation
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Recent advances in genomics have enabled researchers to shed light on the evolutionary processes driving human adaptation, by revealing the genetic architectures underlying traits ranging from lactase persistence, to skin pigmentation, to hypoxic response, to arsenic tolerance. Complicating the identification of targets of positive selection in modern human populations is their complex demographic history, characterized by population bottlenecks and expansions, population structure, migration, and admixture. In particular, founder effects and recent strong population size reductions, such as those experienced by the indigenous peoples of the Americas, have severe impacts on genetic variation that can lead to the accumulation of large allele frequency differences between populations due to genetic drift rather than natural selection. While distinguishing the effects of demographic history from selection remains challenging, neglecting neutral processes can lead to the incorrect identification of candidate loci. We here review the recent population genomic insights into the genetic basis of arsenic tolerance in Andean populations, and utilize this example to highlight both the difficulties pertaining to the identification of local adaptations in strongly bottlenecked populations, as well as the importance of controlling for demographic history in selection scans.
中文翻译：
最近对人类砷耐受性遗传基础的群体基因组见解：在严重瓶颈群体中识别正选基因座的困难
基因组学的最新进展使研究人员能够通过揭示乳糖酶持久性、皮肤色素沉着、缺氧反应和砷耐受性等潜在特征的遗传结构，揭示驱动人类适应的进化过程。现代人类人口的复杂人口历史使确定积极选择目标变得更加复杂，其特点是人口瓶颈和扩张、人口结构、迁移和混合。特别是，创始人效应和最近人口规模的大幅减少，例如美洲土著人民经历的情况，对遗传变异产生严重影响，可能导致由于遗传漂变而不是自然现象而导致人群之间等位基因频率差异的积累。选择。虽然区分人口统计历史与选择的影响仍然具有挑战性，但忽视中性过程可能会导致候选基因座的错误识别。我们在这里回顾了最近对安第斯人群砷耐受性遗传基础的人口基因组见解，并利用这个例子来强调与识别严重瓶颈人口的局部适应有关的困难，以及控制人口历史的重要性在选择扫描中。
更新日期：2019-11-27
中文翻译：
最近对人类砷耐受性遗传基础的群体基因组见解：在严重瓶颈群体中识别正选基因座的困难
基因组学的最新进展使研究人员能够通过揭示乳糖酶持久性、皮肤色素沉着、缺氧反应和砷耐受性等潜在特征的遗传结构，揭示驱动人类适应的进化过程。现代人类人口的复杂人口历史使确定积极选择目标变得更加复杂，其特点是人口瓶颈和扩张、人口结构、迁移和混合。特别是，创始人效应和最近人口规模的大幅减少，例如美洲土著人民经历的情况，对遗传变异产生严重影响，可能导致由于遗传漂变而不是自然现象而导致人群之间等位基因频率差异的积累。选择。虽然区分人口统计历史与选择的影响仍然具有挑战性，但忽视中性过程可能会导致候选基因座的错误识别。我们在这里回顾了最近对安第斯人群砷耐受性遗传基础的人口基因组见解，并利用这个例子来强调与识别严重瓶颈人口的局部适应有关的困难，以及控制人口历史的重要性在选择扫描中。
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