Cited by 497Forensic and Genetic ResearchGenetic Associations and EpidemiologyEvolution and Genetic Dynamics

A new approach for using genome scans to detect recent positive selection in the human genome

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Tang, Kun, Thornton, Kevin R, Stoneking, Mark·2007·PLoS Biology

Abstract

Genome-wide scanning for signals of recent positive selection is essential for a comprehensive and systematic understanding of human adaptation. Here, we present a genomic survey of recent local selective sweeps, especially aimed at those nearly or recently completed. A novel approach was developed for such signals, based on contrasting the extended haplotype homozygosity (EHH) profiles between populations. We applied this method to the genome single nucleotide polymorphism (SNP) data of both the International HapMap Project and Perlegen Sciences, and detected widespread signals of recent local selection across the genome, consisting of both complete and partial sweeps. A challenging problem of genomic scans of recent positive selection is to clearly distinguish selection from neutral effects, given the high sensitivity of the test statistics to departures from neutral demographic assumptions and the lack of a single, accurate neutral model of human history. We therefore developed a new procedure that is robust across a wide range of demographic and ascertainment models, one that indicates that certain portions of the genome clearly depart from neutrality. Simulations of positive selection showed that our tests have high power towards strong selection sweeps that have undergone fixation. Gene ontology analysis of the candidate regions revealed several new functional groups that might help explain some important interpopulation differences in phenotypic traits.

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Authors
Tang, K., Thornton, K. R., & Stoneking, M.
Affiliations
  • Max Planck Institute for Evolutionary Anthropology (DE)
  • University of California, Irvine (US)
  • Max Planck Society (DE)
Corresponding author
Tang, Kun
Venue
PLoS Biology
Published
2007-06-19
Volume
5
Issue
7
Pages
e171
ISSN
  • 1544-9173 (ISSN-L)
  • 1545-7885
OpenAlex
W2058633835
Cited by
489
References
51
Citations by year
2026: 9 · 2025: 21 · 2024: 47 · 2023: 23 · 2022: 21 · 2021: 28 · 2020: 15 · 2019: 11 · 2018: 27 · 2017: 26 · 2016: 24 · 2015: 34 · 2014: 29 · 2013: 26 · 2012: 31
FWCI
15.59
Type
journal article
Language
en
Open access
Locations
  • PLoS Biology (publishedVersion, cc-by)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • RePEc: Research Papers in Economics (submittedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
  • Max Planck Institute for Plasma Physics (submittedVersion)
  • eScholarship (California Digital Library) (submittedVersion, cc-by)
  • Figshare (submittedVersion, cc-by)
  • MPG.PuRe (Max Planck Society) (submittedVersion, other-oa)
Funders
Max-Planck-Gesellschaft
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
Keywords
extended haplotype homozygosity, genome scan, human adaptation, genetic differentiation, demographic assumptions, candidate genes, Gene Ontology, single nucleotide polymorphisms, HapMap
MeSH terms
Alleles, Biometry, Genetic Techniques, Genetics, Population, Haplotypes, Humans, Models, Genetic, Recombination, Genetic, Selection, Genetic, Time Factors, Genome, Human, Polymorphism, Single Nucleotide, Databases, Genetic

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