Literature DB >> 35653351

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

Vivak Soni1, Michiel Vos2, Adam Eyre-Walker1.   

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.

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Year:  2022        PMID: 35653351      PMCID: PMC9162324          DOI: 10.1371/journal.pbio.3001645

Source DB:  PubMed          Journal:  PLoS Biol        ISSN: 1544-9173            Impact factor:   9.593


  56 in total

1.  Characterization of single-nucleotide polymorphisms in coding regions of human genes.

Authors:  M Cargill; D Altshuler; J Ireland; P Sklar; K Ardlie; N Patil; N Shaw; C R Lane; E P Lim; N Kalyanaraman; J Nemesh; L Ziaugra; L Friedland; A Rolfe; J Warrington; R Lipshutz; G Q Daley; E S Lander
Journal:  Nat Genet       Date:  1999-07       Impact factor: 38.330

2.  Estimate of the mutation rate per nucleotide in humans.

Authors:  M W Nachman; S L Crowell
Journal:  Genetics       Date:  2000-09       Impact factor: 4.562

3.  The sickle-cell and haemoglobin C genes in some African populations.

Authors:  A C ALLISON
Journal:  Ann Hum Genet       Date:  1956-07       Impact factor: 1.670

4.  Distributions of exons and introns in the human genome.

Authors:  Meena Kishore Sakharkar; Vincent T K Chow; Pandjassarame Kangueane
Journal:  In Silico Biol       Date:  2004

Review 5.  Molecular signatures of natural selection.

Authors:  Rasmus Nielsen
Journal:  Annu Rev Genet       Date:  2005       Impact factor: 16.830

6.  Genome-Wide Association Study of MKI67 Expression and its Clinical Implications in HBV-Related Hepatocellular Carcinoma in Southern China.

Authors:  Cheng-Kun Yang; Ting-Dong Yu; Chuang-Ye Han; Wei Qin; Xi-Wen Liao; Long Yu; Xiao-Guang Liu; Guang-Zhi Zhu; Hao Su; Si-Cong Lu; Zhi-Wei Chen; Zhen Liu; Ke-Tuan Huang; Zheng-Tao Liu; Yu Liang; Jian-Lu Huang; Zeng-Nan Mo; Xue Qin; Lequn Li; Kai-Yin Xiao; Min-Hao Peng; Cheryl Ann Winkle; Stephen J O'Brien; Tao Peng
Journal:  Cell Physiol Biochem       Date:  2017-07-13

Review 7.  Detecting balancing selection in genomes: limits and prospects.

Authors:  Anna Fijarczyk; Wiesław Babik
Journal:  Mol Ecol       Date:  2015-06-15       Impact factor: 6.185

8.  Calpain proteolysis of alpha II-spectrin in the normal adult human brain.

Authors:  G Y Huh; S B Glantz; S Je; J S Morrow; J H Kim
Journal:  Neurosci Lett       Date:  2001-12-04       Impact factor: 3.046

9.  Demographic history and rare allele sharing among human populations.

Authors:  Simon Gravel; Brenna M Henn; Ryan N Gutenkunst; Amit R Indap; Gabor T Marth; Andrew G Clark; Fuli Yu; Richard A Gibbs; Carlos D Bustamante
Journal:  Proc Natl Acad Sci U S A       Date:  2011-07-05       Impact factor: 11.205

10.  Joint inference of the distribution of fitness effects of deleterious mutations and population demography based on nucleotide polymorphism frequencies.

Authors:  Peter D Keightley; Adam Eyre-Walker
Journal:  Genetics       Date:  2007-12       Impact factor: 4.562

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