Genetics and Gene Regulation Program, Cell and Molecular Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Nat Ecol Evol. 2018 Apr;2(4):713-720. doi: 10.1038/s41559-018-0478-6. Epub 2018 Feb 19.
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.
近期正向选择的特征经常在人类群体中重叠，但这些重叠是否代表单一的祖先事件，这个问题仍未解决。如果单一的选择事件在许多群体中传播，那么相同的大范围单倍型应该出现在每个群体中，并且选择压力可能在不同的群体和环境中普遍存在。确定这种共享的选择事件可以确定基因组位置和人类特征在全球范围内的重要性。此外，最近可用的基因组注释可以帮助将这些特征与跨群体选择的潜在基因和分子表型联系起来。在这里，我们展示了人类中的选择扫荡目录，并确定了那些重叠和共享大范围单倍型的特征。我们将这些扫荡重叠与几个基因座的潜在生物学机制联系起来，包括潜在的新的适应性渗入位点、与抗疟疾有关的糖蛋白基因座和与酒精依赖有关的醇脱氢酶基因簇。
