Patterns of shared signatures of recent positive selection across human populations

生物 进化生物学 选择性扫描 遗传学 基因座(遗传学) 单倍型 选择(遗传算法) 渗入 连锁不平衡 平衡选择 人口 计算生物学 基因 等位基因 社会学 人口学 人工智能 计算机科学
作者
Klein Johnson,Benjamin F. Voight
出处
期刊:Nature Ecology and Evolution [Springer Nature]
卷期号:2 (4): 713-720 被引量:71
标识
DOI:10.1038/s41559-018-0478-6
摘要

Signatures of recent positive selection often overlap across human populations, but the question of how often these overlaps represent a single ancestral event remains unresolved. If a single selective event spread across many populations, the same sweeping haplotype should appear in each population and the selective pressure could be common across populations and environments. Identifying such shared selective events could identify genomic loci and human traits important in recent history across the globe. In addition, genomic annotations that recently became available could help attach these signatures to a potential gene and molecular phenotype selected across populations. Here, we present a catalogue of selective sweeps in humans, and identify those that overlap and share a sweeping haplotype. We connect these sweep overlaps with potential biological mechanisms at several loci, including potential new sites of adaptive introgression, the glycophorin locus associated with malarial resistance and the alcohol dehydrogenase cluster associated with alcohol dependency. Detecting selection events shared across human populations is challenging. Here, the authors identify overlapping and shared signatures of positive selection across human populations and connect shared targets of selection with potential biological mechanisms.
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