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Human Adaptation to Arsenic-Rich Environments.

Schlebusch, Carina M; Gattepaille, Lucie M; Engström, Karin LU ; Vahter, Marie; Jakobsson, Mattias and Broberg Palmgren, Karin LU (2015) In Molecular Biology and Evolution 32(6). p.1544-1555
Abstract
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... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Molecular Biology and Evolution
volume
32
issue
6
pages
1544 - 1555
publisher
Oxford University Press
external identifiers
  • pmid:25739736
  • wos:000356259600015
  • scopus:84930715906
ISSN
0737-4038
DOI
10.1093/molbev/msv046
language
English
LU publication?
yes
id
e3e57b57-8c6b-4f3b-a57a-21e0af53bda3 (old id 5265296)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/25739736?dopt=Abstract
date added to LUP
2015-04-01 18:19:18
date last changed
2017-08-13 03:25:26
@article{e3e57b57-8c6b-4f3b-a57a-21e0af53bda3,
  abstract     = {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.},
  author       = {Schlebusch, Carina M and Gattepaille, Lucie M and Engström, Karin and Vahter, Marie and Jakobsson, Mattias and Broberg Palmgren, Karin},
  issn         = {0737-4038},
  language     = {eng},
  number       = {6},
  pages        = {1544--1555},
  publisher    = {Oxford University Press},
  series       = {Molecular Biology and Evolution},
  title        = {Human Adaptation to Arsenic-Rich Environments.},
  url          = {http://dx.doi.org/10.1093/molbev/msv046},
  volume       = {32},
  year         = {2015},
}