Cited by 460Evolution and Genetic DynamicsForensic and Genetic ResearchGenetic diversity and population structure

Widespread Genomic Signatures of Natural Selection in Hominid Evolution

Open access
McVicker, Graham, Gordon, David, Davis, Colleen, Green, Phil·2009·PLoS Genetics

Abstract

Selection acting on genomic functional elements can be detected by its indirect effects on population diversity at linked neutral sites. To illuminate the selective forces that shaped hominid evolution, we analyzed the genomic distributions of human polymorphisms and sequence differences among five primate species relative to the locations of conserved sequence features. Neutral sequence diversity in human and ancestral hominid populations is substantially reduced near such features, resulting in a surprisingly large genome average diversity reduction due to selection of 19-26% on the autosomes and 12-40% on the X chromosome. The overall trends are broadly consistent with "background selection" or hitchhiking in ancestral populations acting to remove deleterious variants. Average selection is much stronger on exonic (both protein-coding and untranslated) conserved features than non-exonic features. Long term selection, rather than complex speciation scenarios, explains the large intragenomic variation in human/chimpanzee divergence. Our analyses reveal a dominant role for selection in shaping genomic diversity and divergence patterns, clarify hominid evolution, and provide a baseline for investigating specific selective events.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1371/journal.pgen.1000471

Cites

81 of 81 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • Background selection appears to play a primary role in shaping the highly polygenic architecture of human traits and diseases.

    “In particular, background selection (i.e., the selective removal of deleterious alleles across the genome) appears to play a primary role in shaping the highly polygenic architecture of human traits and diseases [1, 7–9].”

    From Denisovan and Neanderthal archaic introgression differentially impacted the genetics of complex traits in modern populations (2022) · cites this paper as [1]

    The Abstract reports a substantial reduction in human neutral diversity consistent with background selection, but its conclusion concerns genomic diversity and divergence, not the polygenic architecture of traits or diseases. The Results/Discussion also cautions that the estimated effects may only partly reflect background selection because other mechanisms could contribute. The paper therefore supports a role for background selection in genome-wide variation, but not the claimed primary role in shaping trait and disease architecture. (LLM, conf=0.82)

    Experimental — accuracy not yet measured
  • The study controlled for background selection by comparing B-statistic distributions between aSNPs and naSNPs.

    “To ensure the observed differences between aSNPs and naSNPs were not caused by different levels of background selection we downloaded from https://github.com/gmcvicker/bkgd the bed file containing the list of pre-computed values for the B-statistic in hg19 coordinates [32].”
  • Genomic features related to natural selection are enriched for loci associated with complex traits.

    “Genomic features related to natural selection are enriched for loci associated with complex traits [1, 7–9].”

    From Denisovan and Neanderthal archaic introgression differentially impacted the genetics of complex traits in modern populations (2022) · cites this paper as [1]

    The Results/Discussion passages report that selection affects genomic diversity and divergence near conserved features, but they do not assess whether those features are enriched for loci associated with complex traits. Searches for complex traits, associated loci, and enrichment found no passage addressing that relationship. (LLM, conf=0.76)

    Experimental — accuracy not yet measured

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Cites

Flagged first, then by citations

Research works printed but not linked: 1

  1. [78]Galassi M Davies J Theiler J Gough B Jungman G 2006 GNU Scientific Library Reference Manual (2nd Ed.). Network Theory Limited

Cited by

Sorted by citations

Authors
McVicker, G., Gordon, D., Davis, C., & Green, P.
Affiliations
  • University of Washington (US)
  • Howard Hughes Medical Institute (US)
Corresponding author
  • McVicker, Graham
  • Green, Phil
Venue
PLoS Genetics
Published
2009-05-08
Volume
5
Issue
5
Pages
e1000471
ISSN
  • 1553-7390 (ISSN-L)
  • 1553-7404
OpenAlex
W2032311106
Cited by
456
References
80
Citations by year
2026: 24 · 2025: 25 · 2024: 37 · 2023: 34 · 2022: 23 · 2021: 29 · 2020: 38 · 2019: 33 · 2018: 33 · 2017: 23 · 2016: 25 · 2015: 25 · 2014: 30 · 2013: 16 · 2012: 25
FWCI
11.83
Type
journal article
Language
en
Open access
Locations
  • PLoS Genetics (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
  • Figshare (submittedVersion, cc-by)
Funders
  • Howard Hughes Medical Institute
  • Natural Sciences and Engineering Research Council of Canada
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
Keywords
natural selection, hominid evolution, human polymorphism, background selection, hitchhiking, X chromosome, human-chimpanzee divergence
MeSH terms
Animals, Pan troglodytes, Humans, Markov Chains, Models, Genetic, Primates, Recombination, Genetic, Selection, Genetic, X Chromosome, Hominidae, Genome, Human, Confidence Intervals, Likelihood Functions, Conserved Sequence, Evolution, Molecular, Polymorphism, Single Nucleotide, Chromosomes, Human, X

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review