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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Detecting and characterizing genomic signatures of positive selection in global populations
American Journal of Human Genetics, Volume 92, No. 6, Year 2013
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Description
Natural selection is a significant force that shapes the architecture of the human genome and introduces diversity across global populations. The question of whether advantageous mutations have arisen in the human genome as a result of single or multiple mutation events remains unanswered except for the fact that there exist a handful of genes such as those that confer lactase persistence, affect skin pigmentation, or cause sickle cell anemia. We have developed a long-range-haplotype method for identifying genomic signatures of positive selection to complement existing methods, such as the integrated haplotype score (iHS) or cross-population extended haplotype homozygosity (XP-EHH), for locating signals across the entire allele frequency spectrum. Our method also locates the founder haplotypes that carry the advantageous variants and infers their corresponding population frequencies. This presents an opportunity to systematically interrogate the whole human genome whether a selection signal shared across different populations is the consequence of a single mutation process followed subsequently by gene flow between populations or of convergent evolution due to the occurrence of multiple independent mutation events either at the same variant or within the same gene. The application of our method to data from 14 populations across the world revealed that positive-selection events tend to cluster in populations of the same ancestry. Comparing the founder haplotypes for events that are present across different populations revealed that convergent evolution is a rare occurrence and that the majority of shared signals stem from the same evolutionary event. © 2013 The American Society of Human Genetics.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC3675259/bin/mmc1.pdf
https://efashare.b-cdn.net/share/pmc/articles/PMC3675259/bin/mmc2.xlsx
Authors & Co-Authors
Liu, Xuanyao
Unknown Affiliation
Twee-Hee Ong, Rick Hee
Unknown Affiliation
Pillai, Esakimuthu Nisha
Unknown Affiliation
Elzein, Abier M.
Unknown Affiliation
Small, Kerrin S.
Unknown Affiliation
Clark, Taane Gregory
Unknown Affiliation
Kwiatkowski, Dominic P.
Unknown Affiliation
Teo, Yik Ying
Unknown Affiliation
Statistics
Citations: 72
Authors: 8
Affiliations: 9
Identifiers
Doi:
10.1016/j.ajhg.2013.04.021
ISSN:
00029297
e-ISSN:
15376605
Research Areas
Cancer
Genetics And Genomics
Study Design
Cross Sectional Study