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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
agricultural and biological sciences
Human adaptation to arsenic-rich environments
Molecular Biology and Evolution, Volume 32, No. 6, Year 2015
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Description
Adaptation drives genomic changes; however, evidence of specific adaptations in humans remains limited. We found that inhabitants of the northern Argentinean Andes, an arid region where elevated arsenic concentrations in available drinking water is common, have unique arsenic metabolism, with efficient methylation and excretion of the major metabolite dimethylated arsenic and a less excretion of the highly toxic monomethylated metabolite. We genotyped women from this population for 4,301,332 single nucleotide polymorphisms (SNPs) and found a strong association between the AS3MT (arsenic [+3 oxidation state] methyltransferase) gene and mono- and dimethylated arsenic in urine, suggesting that AS3MT functions as the major gene for arsenic metabolism in humans. We found strong genetic differentiation around AS3MT in the Argentinean Andes population, compared with a highly related Peruvian population (FST = 0.014) from a region with much less environmental arsenic. Also, 13 of the 100 SNPs with the highest genome-wide Locus-Specific Branch Length occurred near AS3MT. In addition, our examination of extended haplotype homozygosity indicated a selective sweep of the Argentinean Andes population, in contrast to Peruvian and Colombian populations. Our data show that adaptation to tolerate the environmental stressor arsenic has likely driven an increase in the frequencies of protective variants of AS3MT, providing the first evidence of human adaptation to a toxic chemical. © 2015 The Author 2015.
Authors & Co-Authors
Schlebusch, Carina M.
Sweden, Uppsala
Uppsala Universitet
Gattepaille, Lucie Martine
Sweden, Uppsala
Uppsala Universitet
Engström, Karin Schläwicke
Sweden, Lund
Lunds Universitet
Vahter, Marie E.
Sweden, Stockholm
Karolinska Institutet
Jakobsson, Mattias
Sweden, Uppsala
Uppsala Universitet
Sweden, Solna
Science for Life Laboratory
Broberg, Karin E.
Sweden, Stockholm
Karolinska Institutet
Statistics
Citations: 117
Authors: 6
Affiliations: 4
Identifiers
Doi:
10.1093/molbev/msv046
ISSN:
07374038
Research Areas
Environmental
Genetics And Genomics
Study Design
Cross Sectional Study
Participants Gender
Female