An approach on the migratory processes in the north of Chile based on Y chromosome analysis.

OBJECTIVES: Northern Chile is an area characterized by a complex cultural and demographic trajectory. During the last few centuries, this complex trajectory has become the destination of intra- and intercontinental migratory waves. In this study, we analyzed the Y chromosome to evaluate how migratory and admixture patterns have affected the genetic composition of the populations in northern Chile compared with other populations of the country. METHODS: A total of 311 people from urban (Antofagasta and Calama), rural (Azapa and Camarones), and Native (Aymara and Atacameño) populations from northern Chile were characterized by 26 SNPs and the STR DYS393 of the Y chromosome, along with 69 individuals from Native populations (Mapuche, Pehuenche, and Huilliche) from southern Chile. In addition to characterizing the paternal lineages, multivariate analyses were performed to compare with published data from other Chilean populations. RESULTS: Both the Antofagasta and Calama populations show differences compared with the rest of the Chilean population. On one side, Antofagasta shows a high diversity of non-Amerindian lineages, including the highest value for haplogroup I (12%) for all Chileans populations. Otherwise, Calama has the highest value of any Chilean urban population (31.9%) for Amerindian lineages, including the only Q-M3 sub-lineage detected in the entire sample. Regarding the Native population, Aymara presents the highest percentage of Q-M3 (94.4%). CONCLUSIONS: The Y chromosome haplogroup distribution allowed us to identify recent migratory processes typical of the northern populations studied. These have shaped the demographic and cultural dynamics of local and migrant groups in the territory.

Recent population genomic insights into the genetic basis of arsenic tolerance in humans: the difficulties of identifying positively selected loci in strongly bottlenecked populations.

Recent advances in genomics have enabled researchers to shed light on the evolutionary processes driving human adaptation, by revealing the genetic architectures underlying traits ranging from lactase persistence, to skin pigmentation, to hypoxic response, to arsenic tolerance. Complicating the identification of targets of positive selection in modern human populations is their complex demographic history, characterized by population bottlenecks and expansions, population structure, migration, and admixture. In particular, founder effects and recent strong population size reductions, such as those experienced by the indigenous peoples of the Americas, have severe impacts on genetic variation that can lead to the accumulation of large allele frequency differences between populations due to genetic drift rather than natural selection. While distinguishing the effects of demographic history from selection remains challenging, neglecting neutral processes can lead to the incorrect identification of candidate loci. We here review the recent population genomic insights into the genetic basis of arsenic tolerance in Andean populations, and utilize this example to highlight both the difficulties pertaining to the identification of local adaptations in strongly bottlenecked populations, as well as the importance of controlling for demographic history in selection scans.

The genetic prehistory of the Andean highlands 7000 years BP though European contact.

The peopling of the Andean highlands above 2500 m in elevation was a complex process that included cultural, biological, and genetic adaptations. Here, we present a time series of ancient whole genomes from the Andes of Peru, dating back to 7000 calendar years before the present (BP), and compare them to 42 new genome-wide genetic variation datasets from both highland and lowland populations. We infer three significant features: a split between low- and high-elevation populations that occurred between 9200 and 8200 BP; a population collapse after European contact that is significantly more severe in South American lowlanders than in highland populations; and evidence for positive selection at genetic loci related to starch digestion and plausibly pathogen resistance after European contact. We do not find selective sweep signals related to known components of the human hypoxia response, which may suggest more complex modes of genetic adaptation to high altitude.

Human adaptation to arsenic in Andean populations of the Atacama Desert.

OBJECTIVES: Quebrada Camarones, in the Atacama Desert, has the highest arsenic levels in the Americas (>1,000 µg/L). However, the Camarones people have subsisted in this adverse environment during the last 7,000 years and have not presented any epidemiological emergencies. Therefore, to solve this conundrum we compared the frequencies of four protective genetic variants of the AS3MT gene associated with efficient arsenic metabolization, between the living populations of Camarones and two other populations historically exposed to lower levels of arsenic. MATERIALS AND METHODS: The Chilean selected population samples come from Quebrada Camarones (n = 50) and the Azapa Valley (n = 47) in the north and San Juan de la Costa (n = 45) in southern Chile. The genotyping was conducted using PCR-RFLP. We compared the genotypic and allelic frequencies, and estimated the haplotype frequencies in the AS3MT gene. RESULTS: We found higher frequencies of the protective variants in those people from Camarones than in the other two populations. The haplotype estimation showed that the combination of protective variants of CTTA is very frequent in Camarones (68%) and Azapa (48%), but extremely low in San Juan de la Costa (8%). Also, the C variant associated with toxicity risks in the SNP Met287Thr had a lower frequency in Camarones (1%) and is higher in the other populations. DISCUSSION: The higher frequency of protective variants in both northern Chilean populations indicates a long exposure to naturally arsenic-contaminated water sources. Our data suggest that a high arsenic metabolization capacity has been selected as an adaptive mechanism in these populations in order to survive in an arsenic-laden environment.