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Scanning the human genome for “signatures” of positive selection: Transformative opportunities and ethical obligations
Evolutionary Anthropology ( IF 4.6 ) Pub Date : 2021-03-31 , DOI: 10.1002/evan.21893
Margarita Hernandez 1 , George H Perry 1, 2, 3
Affiliation  

The relationship history of evolutionary anthropology and genetics is complex. At best, genetics is a beautifully integrative part of the discipline. Yet this integration has also been fraught, with punctuated, disruptive challenges to dogma, periodic reluctance by some members of the field to embrace results from analyses of genetic data, and occasional over‐assertions of genetic definitiveness by geneticists. At worst, evolutionary genetics has been a tool for reinforcing racism and colonialism. While a number of genetics/genomics papers have disproportionately impacted evolutionary anthropology, here we highlight the 2002 presentation of an elegantly powerful approach for identifying “signatures” of past positive selection from haplotype‐based patterns of genetic variation. Together with technological advances in genotyping methods, this article transformed our field by facilitating genome‐wide “scans” for signatures of past positive selection in human populations. This approach helped researchers test longstanding evolutionary anthropology hypotheses while simultaneously providing opportunities to develop entirely new ones. Genome‐wide scans for signatures of positive selection have since been conducted in diverse worldwide populations, with striking findings of local adaptation and convergent evolution. Yet there are ethical considerations with respect to the ubiquity of these studies and the cross‐application of the genome‐wide scan approach to existing datasets, which we also discuss.

中文翻译:

扫描人类基因组寻找积极选择的“签名”:变革机会和道德义务

进化人类学和遗传学的关系历史是复杂的。遗传学充其量只是该学科的一个完美的综合部分。然而,这种整合也充满了挑战,对教条的断断续续的、破坏性的挑战,该领域的一些成员周期性地不愿接受遗传数据分析的结果,以及遗传学家偶尔过度断言遗传的确定性。最糟糕的是,进化遗传学已成为强化种族主义和殖民主义的工具。虽然许多遗传学/基因组学论文对进化人类学产生了不成比例的影响,但在这里我们重点介绍 2002 年提出的一种优雅而强大的方法,用于从基于单倍型的遗传变异模式中识别过去积极选择的“特征”。结合基因分型方法的技术进步,本文通过促进全基因组“扫描”寻找人类群体中过去积极选择的特征,改变了我们的领域。这种方法帮助研究人员测试长期存在的进化人类学假设,同时提供开发全新假设的机会。此后,对全球不同人群进行了全基因组扫描,以寻找积极选择的特征,并在局部适应和趋同进化方面取得了惊人的发现。然而,这些研究的普遍性以及全基因组扫描方法对现有数据集的交叉应用存在伦理方面的考虑,我们也对此进行了讨论。
更新日期:2021-04-11
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