Positive selection of AS3MT to arsenic water in Andean populations.

Maru Mormina, Christina Eichstaedt, Tiago Antao, Alexia Cardona, Luca Pagani, Toomas Kivisild

Research output: Contribution to journalArticleResearchpeer-review

3 Downloads (Pure)

Abstract

Arsenic is a carcinogen associated with skin lesions and cardiovascular diseases. The Colla population from the Puna region in Northwest Argentinean is exposed to levels of arsenic in drinking water exceeding the recommended maximum by a factor of 20. Yet, they thrive in this challenging environment since thousands of years and therefore we hypothesize strong selection signatures in genes involved in arsenic metabolism. We analyzed genome-wide genotype data for 730,000 loci in 25 Collas, considering 24 individuals of the neighbouring Calchaquíes and 24 Wichí from the Gran Chaco region in the Argentine province of Salta as control groups. We identified a strong signal of positive selection in the main arsenic methyltransferase AS3MT gene, which has been previously associated with lower concentrations of the most toxic product of arsenic metabolism monomethylarsonic acid. This study confirms recent studies reporting selection signals in the AS3MT gene albeit using different samples, tests and control populations.
Original languageEnglish
Pages (from-to)97-102
JournalMutation Research/Fundamental and Molecular Mechanisms of Mutagenesis
Volume780
DOIs
Publication statusPublished - 29 Jul 2015

Keywords

  • Arsenic drinking water
  • Collas
  • Puna
  • Methyltransferase
  • Calchaquíes

Cite this

Mormina, M., Eichstaedt, C., Antao, T., Cardona, A., Pagani, L., & Kivisild, T. (2015). Positive selection of AS3MT to arsenic water in Andean populations. 780, 97-102. https://doi.org/10.1016/j.mrfmmm.2015.07.007
Mormina, Maru ; Eichstaedt, Christina ; Antao, Tiago ; Cardona, Alexia ; Pagani, Luca ; Kivisild, Toomas. / Positive selection of AS3MT to arsenic water in Andean populations. 2015 ; Vol. 780. pp. 97-102.
@article{9ad6e2e9d0c24fd9aceb6b106cc9badb,
title = "Positive selection of AS3MT to arsenic water in Andean populations.",
abstract = "Arsenic is a carcinogen associated with skin lesions and cardiovascular diseases. The Colla population from the Puna region in Northwest Argentinean is exposed to levels of arsenic in drinking water exceeding the recommended maximum by a factor of 20. Yet, they thrive in this challenging environment since thousands of years and therefore we hypothesize strong selection signatures in genes involved in arsenic metabolism. We analyzed genome-wide genotype data for 730,000 loci in 25 Collas, considering 24 individuals of the neighbouring Calchaqu{\'i}es and 24 Wich{\'i} from the Gran Chaco region in the Argentine province of Salta as control groups. We identified a strong signal of positive selection in the main arsenic methyltransferase AS3MT gene, which has been previously associated with lower concentrations of the most toxic product of arsenic metabolism monomethylarsonic acid. This study confirms recent studies reporting selection signals in the AS3MT gene albeit using different samples, tests and control populations.",
keywords = "Arsenic drinking water, Collas, Puna, Methyltransferase, Calchaqu{\'i}es",
author = "Maru Mormina and Christina Eichstaedt and Tiago Antao and Alexia Cardona and Luca Pagani and Toomas Kivisild",
year = "2015",
month = "7",
day = "29",
doi = "10.1016/j.mrfmmm.2015.07.007",
language = "English",
volume = "780",
pages = "97--102",

}

Mormina, M, Eichstaedt, C, Antao, T, Cardona, A, Pagani, L & Kivisild, T 2015, 'Positive selection of AS3MT to arsenic water in Andean populations.' vol. 780, pp. 97-102. https://doi.org/10.1016/j.mrfmmm.2015.07.007

Positive selection of AS3MT to arsenic water in Andean populations. / Mormina, Maru; Eichstaedt, Christina; Antao, Tiago; Cardona, Alexia; Pagani, Luca; Kivisild, Toomas.

Vol. 780, 29.07.2015, p. 97-102.

Research output: Contribution to journalArticleResearchpeer-review

TY - JOUR

T1 - Positive selection of AS3MT to arsenic water in Andean populations.

AU - Mormina, Maru

AU - Eichstaedt, Christina

AU - Antao, Tiago

AU - Cardona, Alexia

AU - Pagani, Luca

AU - Kivisild, Toomas

PY - 2015/7/29

Y1 - 2015/7/29

N2 - Arsenic is a carcinogen associated with skin lesions and cardiovascular diseases. The Colla population from the Puna region in Northwest Argentinean is exposed to levels of arsenic in drinking water exceeding the recommended maximum by a factor of 20. Yet, they thrive in this challenging environment since thousands of years and therefore we hypothesize strong selection signatures in genes involved in arsenic metabolism. We analyzed genome-wide genotype data for 730,000 loci in 25 Collas, considering 24 individuals of the neighbouring Calchaquíes and 24 Wichí from the Gran Chaco region in the Argentine province of Salta as control groups. We identified a strong signal of positive selection in the main arsenic methyltransferase AS3MT gene, which has been previously associated with lower concentrations of the most toxic product of arsenic metabolism monomethylarsonic acid. This study confirms recent studies reporting selection signals in the AS3MT gene albeit using different samples, tests and control populations.

AB - Arsenic is a carcinogen associated with skin lesions and cardiovascular diseases. The Colla population from the Puna region in Northwest Argentinean is exposed to levels of arsenic in drinking water exceeding the recommended maximum by a factor of 20. Yet, they thrive in this challenging environment since thousands of years and therefore we hypothesize strong selection signatures in genes involved in arsenic metabolism. We analyzed genome-wide genotype data for 730,000 loci in 25 Collas, considering 24 individuals of the neighbouring Calchaquíes and 24 Wichí from the Gran Chaco region in the Argentine province of Salta as control groups. We identified a strong signal of positive selection in the main arsenic methyltransferase AS3MT gene, which has been previously associated with lower concentrations of the most toxic product of arsenic metabolism monomethylarsonic acid. This study confirms recent studies reporting selection signals in the AS3MT gene albeit using different samples, tests and control populations.

KW - Arsenic drinking water

KW - Collas

KW - Puna

KW - Methyltransferase

KW - Calchaquíes

U2 - 10.1016/j.mrfmmm.2015.07.007

DO - 10.1016/j.mrfmmm.2015.07.007

M3 - Article

VL - 780

SP - 97

EP - 102

ER -

Mormina M, Eichstaedt C, Antao T, Cardona A, Pagani L, Kivisild T. Positive selection of AS3MT to arsenic water in Andean populations. 2015 Jul 29;780:97-102. https://doi.org/10.1016/j.mrfmmm.2015.07.007