Genetic structure of native circumpolar populations based on autosomal, mitochondrial, and Y chromosome DNA markers.
ABSTRACT This study investigates the genetic structure of the present-day inhabitants of Beringia in order to answer questions concerning their origins and evolution. According to recent studies, the ancestors of Native Americans paused for a time in Beringia, during which they differentiated genetically from other Asians before peopling the New World. Furthermore, the Koryaks of Kamchatka share a "ubiquitous" allele (D9S1120) with Native Americans, indicating they may have descended from the same ancestral Beringian population that gave rise to the New World founders. Our results show that a genetic barrier exists between Kamchatkans (Koryaks and Even) and Bering Island inhabitants (Aleuts, mixed Aleuts, and Russians), based on Analysis of Molecular Variance (AMOVA) and structure analysis of nine autosomal short tandem repeats (STRs). This is supported by mitochondrial DNA evidence, but not by analysis of Y chromosome markers, as recent non-native male admixture into the region appears to have partially obscured ancient population relationships. Our study indicates that while Aleuts are descended from the original New World founders, the Koryaks are unlikely to represent a Beringian remnant of the ancestral population that gave rise to Native Americans. They are instead, like the Even, more recent arrivals to Kamchatka from interior Siberia, and the "ubiquitous" allele in Koryaks may result from recent gene flow from Chukotka. Genbank accession numbers for mtDNA sequences: GQ922935-GQ922973.
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ABSTRACT: Background: This study examined whether cultural factors, as compared to geographical distance, have produced a population sub-structure among different groups from the La Guajira population (Amerindian Wayúu and other resident groups) that co-exist within the same region. Aims: The aims of this study were to analyse this population to discover whether cultural barriers result in the sub-structure, to evaluate whether there is a genetic drift effect and to describe migration dynamics using a genetic, genealogical and demographic approach. Subjects: This study examined a sample of 290 individuals who were grouped based on a genealogical criterion to distinguish between native individuals and migrants. Materials and methods: Using demographic information, the age and gender structure of the population and genetic drift estimators were analysed. Using 15 autosomal microsatellites, heterozygosity, Hardy-Weinberg equilibrium (HWE), inbreeding, sub-structure, recent migration rate and genetic relationships were also evaluated using a Principal Component analysis (PCA) using reference populations. Results: La Guajira is a young population that is growing and exposed to a moderate effect of genetic drift (Neme 11.903). The Wayúu are highly diverse (Ho 0.727) and different from other groups, with the exception of Wayúu-Guajiro. This trend was also observed in other Amerindian populations. Conclusion: This study found a high level of admixture and gene flow within the Wayúu population despite cultural differences. Thus, although the Wayúu population differs from other population groups, it is not an isolated population.Annals of Human Biology 03/2013; 40(2):119-131. · 1.48 Impact Factor
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ABSTRACT: It is now widely agreed that the Native American founders originated from a Beringian source population ~15-18 thousand years ago (kya) and rapidly populated all of the New World, probably mainly following the Pacific coastal route. However, details about the migration into the Americas and the routes pursued on the continent still remain unresolved, despite numerous genetic, archaeological, and linguistic investigations. To examine the pioneering peopling phase of the South American continent, we screened literature and mtDNA databases and identified two novel mitochondrial DNA (mtDNA) clades, here named D1g and D1j, within the pan-American haplogroup D1. They both show overall rare occurrences but local high frequencies, and are essentially restricted to populations from the Southern Cone of South America (Chile and Argentina). We selected and completely sequenced 43 D1g and D1j mtDNA genomes applying highest quality standards. Molecular and phylogeographic analyses revealed extensive variation within each of the two clades and possibly distinct dispersal patterns. Their age estimates agree with the dating of the earliest archaeological sites in South America and indicate that the Paleo-Indian spread along the entire longitude of the American double continent might have taken even <2000 yr. This study confirms that major sampling and sequencing efforts are mandatory for uncovering all of the most basal variation in the Native American mtDNA haplogroups and for clarification of Paleo-Indian migrations, by targeting, if possible, both the general mixed population of national states and autochthonous Native American groups, especially in South America.Genome Research 02/2012; 22(5):811-20. · 14.40 Impact Factor
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ABSTRACT: Evenks and Evens, Tungusic-speaking reindeer herders and hunter-gatherers, are spread over a wide area of northern Asia, whereas their linguistic relatives the Udegey, sedentary fishermen and hunter-gatherers, are settled to the south of the lower Amur River. The prehistory and relationships of these Tungusic peoples are as yet poorly investigated, especially with respect to their interactions with neighbouring populations. In this study, we analyse over 500 complete mtDNA genome sequences from nine different Evenk and even subgroups as well as their geographic neighbours from Siberia and their linguistic relatives the Udegey from the Amur-Ussuri region in order to investigate the prehistory of the Tungusic populations. These data are supplemented with analyses of Y-chromosomal haplogroups and STR haplotypes in the Evenks, Evens, and neighbouring Siberian populations. We demonstrate that whereas the North Tungusic Evenks and Evens show evidence of shared ancestry both in the maternal and in the paternal line, this signal has been attenuated by genetic drift and differential gene flow with neighbouring populations, with isolation by distance further shaping the maternal genepool of the Evens. The Udegey, in contrast, appear quite divergent from their linguistic relatives in the maternal line, with a mtDNA haplogroup composition characteristic of populations of the Amur-Ussuri region. Nevertheless, they show affinities with the Evenks, indicating that they might be the result of admixture between local Amur-Ussuri populations and Tungusic populations from the north.PLoS ONE 01/2013; 8(12):e83570. · 3.73 Impact Factor