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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Vydáno v:PLoS biology Ročník 20; číslo 6; s. e3001645
Hlavní autoři: Soni, Vivak, Vos, Michiel, Eyre-Walker, Adam
Médium: Journal Article
Jazyk:angličtina
Vydáno: United States Public Library of Science 02.06.2022
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ISSN:1545-7885, 1544-9173, 1545-7885
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Abstract 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.
AbstractList 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.
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.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.
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. What maintains genetic variation remains an unresolved mystery. This study describes the development of a new test and its application to human population genomic data, suggesting that natural selection may have a much more important role than previously thought, with hundreds of non-synonymous polymorphisms subject to balancing selection.
Audience Academic
Author Eyre-Walker, Adam
Soni, Vivak
Vos, Michiel
AuthorAffiliation 2 European Centre for Environment and Human Health, University of Exeter Medical School, Environment and Sustainability Institute, Penryn, United Kingdom
Institute of Science and Technology Austria (IST Austria), AUSTRIA
1 School of Life Sciences, University of Sussex, Brighton, United Kingdom
AuthorAffiliation_xml – name: 1 School of Life Sciences, University of Sussex, Brighton, United Kingdom
– name: 2 European Centre for Environment and Human Health, University of Exeter Medical School, Environment and Sustainability Institute, Penryn, United Kingdom
– name: Institute of Science and Technology Austria (IST Austria), AUSTRIA
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CitedBy_id crossref_primary_10_1111_eva_70085
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Snippet The role that balancing selection plays in the maintenance of genetic diversity remains unresolved. Here, we introduce a new test, based on the...
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SubjectTerms 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
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Title A new test suggests hundreds of amino acid polymorphisms in humans are subject to balancing selection
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Volume 20
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