Human adaptation to arsenic in Andean populations of the Atacama Desert

Apata, Mario; Arriaza, Bernado; Llop, Elena; Moraga, Mauricio

doi:10.1002/ajpa.23193

Cited by 55 publications

(42 citation statements)

References 30 publications

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“…[81][82][83] This gene frequency value is very high compared with an 8% found in populations living in non-arsenical areas. 81 We expect that similarly high gene frequencies will be observed in other regions where extreme levels of natural multi elemental contamination are present in the water sources. 81,83 Thus, this gene most likely facilitated the peo- Regarding cultural responses to environmental arsenic, the Chinchorro complex artificial mummification system was linked to arseniasis.…”

Section: Molecular Biology Data Indicates Modern Populations From Sanmentioning

confidence: 71%

“…81 We expect that similarly high gene frequencies will be observed in other regions where extreme levels of natural multi elemental contamination are present in the water sources. 81,83 Thus, this gene most likely facilitated the peo- Regarding cultural responses to environmental arsenic, the Chinchorro complex artificial mummification system was linked to arseniasis. 71 However, cultural adaptations to hydroarsenicism during the Inca time, have received minimal debate.…”

Section: Molecular Biology Data Indicates Modern Populations From Sanmentioning

confidence: 82%

“…Antonio de los Cobres in Argentina and Camarones in Chile, areas, where arsenic levels in the water reach on average 300-1,000 μg/L, respectively, are able to metabolize and more quickly eliminate this semimetal from their bodies through urination. [81][82][83] Both populations present a 68% frequency of the AS3MT gene protective variant, which allows them to methylate arsenic and prevent poisoning. [81][82][83] This gene frequency value is very high compared with an 8% found in populations living in non-arsenical areas.…”

Section: Molecular Biology Data Indicates Modern Populations From Sanmentioning

confidence: 99%

“…[81][82][83] Both populations present a 68% frequency of the AS3MT gene protective variant, which allows them to methylate arsenic and prevent poisoning. [81][82][83] This gene frequency value is very high compared with an 8% found in populations living in non-arsenical areas. 81 We expect that similarly high gene frequencies will be observed in other regions where extreme levels of natural multi elemental contamination are present in the water sources.…”

Section: Molecular Biology Data Indicates Modern Populations From Sanmentioning

confidence: 99%

See 3 more Smart Citations

Living in poisoning environments: Invisible risks and human adaptation

Arriaza

Amarasiriwardena

Standen

et al. 2018

Evolutionary Anthropology

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This article describes the hidden natural chemical contaminants present in a unique desert environment and their health consequences on ancient populations. Currently, millions of people are affected worldwide by toxic elements such as arsenic. Using data gathered from Atacama Desert mummies, we discuss long‐term exposure and biocultural adaptation to toxic elements. The rivers that bring life to the Atacama Desert are paradoxically laden with arsenic and other minerals that are invisible and tasteless. High intake of these toxic elements results in severe health and behavioral problems, and even death. We demonstrate that Inca colonies, from Camarones 9 site, were significantly affected by chemical contaminants in their food and water. It appears however, some modern‐day Andean populations resist the elevated levels of arsenic exposure as a result of positive selection mediated via the arsenic methyltransferase enzyme and display more tolerance to high chemical doses. This article further debate the effects of natural pollution and biocultural adaptation of past populations.

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Section: Molecular Biology Data Indicates Modern Populations From Sanmentioning

confidence: 71%

Section: Molecular Biology Data Indicates Modern Populations From Sanmentioning

confidence: 82%

Section: Molecular Biology Data Indicates Modern Populations From Sanmentioning

confidence: 99%

Section: Molecular Biology Data Indicates Modern Populations From Sanmentioning

confidence: 99%

See 2 more Smart Citations

Living in poisoning environments: Invisible risks and human adaptation

Arriaza

Amarasiriwardena

Standen

et al. 2018

Evolutionary Anthropology

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show abstract

“…30 These variants are associated with more efficient arsenic metabolism and suggest human adaptation to persistent high levels of arsenic. 28−30 …”

Section: Introductionmentioning

confidence: 99%

Nonsynonymous Polymorphisms in the Human AS3MT Arsenic Methylation Gene: Implications for Arsenic Toxicity

Packianathan

Rossman³

et al. 2017

Chem. Res. Toxicol.

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Arsenic methylation, the primary biotransformation in the human body, is catalyzed by the enzyme As(III) S-adenosylmethionine (SAM) methyltransferases (hAS3MT). This process is thought to be protective from acute high-level arsenic exposure. However, with long-term low-level exposure, hAS3MT produces intracellular methylarsenite (MAs(III)) and dimethylarsenite (DMAs(III)), which are considerably more toxic than inorganic As(III) and may contribute to arsenic-related diseases. Several single nucleotide polymorphisms (SNPs) in putative regulatory elements of the hAS3MT gene have been shown to be protective. In contrast, three previously identified exonic SNPs (R173W, M287T, and T306I) may be deleterious. The goal of this study was to examine the effect of single amino acid substitutions in hAS3MT on the activity of the enzyme that might explain their contributions to adverse health effects of environmental arsenic. We identified five additional intragenic variants in hAS3MT (H51R, C61W, I136T, W203C, and R251H). We purified the eight polymorphic hAS3MT proteins and characterized their enzymatic properties. Each enzyme had low methylation activity through decreased affinity for substrate, lower overall rates of catalysis, or lower stability. We propose that amino acid substitutions in hAS3MT with decreased catalytic activity lead to detrimental responses to environmental arsenic and may increase the risk of arsenic-related diseases.

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Ancestry and admixture of a southernmost Chilean population: The reflection of a migratory history

Flores‐Alvarado

Orellana-Soto

Moraga

2021

American J Hum Biol

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Objectives: Punta Arenas is a Chilean city situated on ancestral Aönikenk territory. The city was founded by 19th-and 20th-century colonists from Chile (Chiloé) and Europe (Croatia). This work uses uniparental and ancestryinformative markers (AIMs) to explore the effects of historic migratory and admixture patterns on the current genetic composition of Punta Arenas. Methods:We analyzed mitochondrial DNA (mtDNA), Y-chromosome singlenucleotide polymorphisms (SNPs), and 141 AIMs obtained from 129 DNA samples from male residents with regional ancestry. After characterizing uniparental lineages and ancestry proportions, multivariate analysis was used to explore relationships among the various types of data.Results: Punta Arenas has an admixed population with three main genetic components: European (56.5%), northern Native (11.3%), and south-central Native (28.6%). The Native component is preponderant in the mtDNA (83.76%), while the foreign component predominates in the Y-chromosome (92.25%). Non-Native mtDNA lineages are associated with European genetic ancestry, and Native mtDNA lineages originated mainly in the southern and southernmost regions of Chile. Most non-Native Y-chromosome SNPs originated in Spain, and secondly, in Croatia. Conclusions:The population of Punta Arenas is mainly of Chilote origin with south-central Native and Spanish ancestral components, as well as some Croatian components. The persistence of local Native lineages is notable, suggesting continuity with the ancestral populations of the region such as the Kawésqar, Aönikenk, Yámana, or Selknam peoples. This study contributes to our knowledge of local history and its links to national and global developments in genetic ancestry.

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Human adaptation to arsenic in Andean populations of the Atacama Desert

Cited by 55 publications

References 30 publications

Living in poisoning environments: Invisible risks and human adaptation

Living in poisoning environments: Invisible risks and human adaptation

Nonsynonymous Polymorphisms in the Human AS3MT Arsenic Methylation Gene: Implications for Arsenic Toxicity

Ancestry and admixture of a southernmost Chilean population: The reflection of a migratory history

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