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Nat Ecol Evol. 2018 Apr;2(4):713-720. doi: 10.1038/s41559-018-0478-6. Epub 2018 Feb 19.

Patterns of shared signatures of recent positive selection across human populations.

Author information

1
Genetics and Gene Regulation Program, Cell and Molecular Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
2
Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. bvoight@pennmedicine.upenn.edu.
3
Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. bvoight@pennmedicine.upenn.edu.
4
Institute for Translational Medicine and Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. bvoight@pennmedicine.upenn.edu.

Abstract

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.

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