A new test suggests hundreds of amino acid polymorphisms in humans are subject to balancing selection

The role that balancing selection plays in the maintenance of genetic diversity remains unresolved. Here, we introduce a new test, based on the McDonald–Kreitman test, in which the number of polymorphisms that are shared between populations is contrasted to those that are private at selected and neu...

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Veröffentlicht in:PLoS biology Jg. 20; H. 6; S. e3001645
Hauptverfasser: Soni, Vivak, Vos, Michiel, Eyre-Walker, Adam
Format: Journal Article
Sprache:Englisch
Veröffentlicht: United States Public Library of Science 02.06.2022
Public Library of Science (PLoS)
Schlagworte:
Amino acids
Balancing
Biology and Life Sciences
Evolution & development
Genetic aspects
Genetic diversity
Genetic polymorphisms
Methods and Resources
Mutation
Physiological aspects
Polymorphism
Population
Quantitative genetics
Research and Analysis Methods
Simulation
United Kingdom
ISSN:1545-7885, 1544-9173, 1545-7885
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Zusammenfassung:The role that balancing selection plays in the maintenance of genetic diversity remains unresolved. Here, we introduce a new test, based on the McDonald–Kreitman test, in which the number of polymorphisms that are shared between populations is contrasted to those that are private at selected and neutral sites. We show that this simple test is robust to a variety of demographic changes, and that it can also give a direct estimate of the number of shared polymorphisms that are directly maintained by balancing selection. We apply our method to population genomic data from humans and provide some evidence that hundreds of nonsynonymous polymorphisms are subject to balancing selection.
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The authors have declared that no competing interests exist.
ISSN:1545-7885
1544-9173
1545-7885
DOI:10.1371/journal.pbio.3001645