Genetic Structure of Native Circumpolar Populations Based on Autosomal, Mitochondrial, and Y Chromosome DNA Markers

ArticleinAmerican Journal of Physical Anthropology 143(1):62-74 · September 2010with27 Reads
DOI: 10.1002/ajpa.21290 · Source: PubMed
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.
    • "Mitochondrial and genomic data indicate a Paleo-Eskimo expansion across the Arctic ≥4,000 years ago, which may have erased the genetic legacy of the earlier inhabitants, just as later (800–1000 AD) migrations of the Neo-Eskimo Thule (ancestors of contemporary Inuit/I ˜ nupiat peoples) replaced the Paleo-Eskimos and produced another genetic shift (Hayes et al. 2005; Rasmussen et al. 2010; Rubicz et al. 2010; Reich et al. 2012; Raghavan et al. 2014a,b; ). Genetic discontinuities are also seen over time in the Aleutian Islands, where the Paleo- Aleuts who first settled the islands were replaced by Neo-Aleuts (ancestors of contemporary Aleuts) who migrated there around 1000 AD (Rubicz et al. 2010). Demic expansions have contributed to the genetic structure of Athapaskan speakers and related populations in the Canadian Arctic/Subarctic as well (Dulik et al. 2012). "
    [Show abstract] [Hide abstract] ABSTRACT: Studies of Native American genetic diversity and population history have been transformed over the last decade by important developments in anthropological genetics. During this time, researchers have adopted new DNA technologies and computational approaches for analyzing genomic data, and they have become increasingly sensitive to the views of research participants and communities. As new methods are applied to long-standing questions, and as more research is conducted in collaboration with indigenous communities, we are gaining new insights into the history and diversity of indigenous populations. This review discusses the recent methodological advances and genetic studies that have improved our understanding of Native American genomics and population histories. We synthesize current knowledge about Native American genomic variation and build a model of population history in the Americas. We also discuss the broader implications of this research for anthropology and related disciplines, and we highlight challenges and other considerations for future research. Expected final online publication date for the Annual Review of Anthropology Volume 45 is October 21, 2016. Please see for revised estimates.
    Article · Nov 2016
    • "The results of the analysis were given to the communities prior to writing up the results for scientific publication. Comparative data were obtained from studies published on mitochondrial HVRI from Greenlandic and Canadian Inuit (Saillard et al., 2000; Helgason et al., 2006), ancient Paleo-and Neo-Eskimos (Gilbert et al., 2008; Raghavan et al., 2014), ancient and contemporary Aleuts (Rubicz et al., 2003; Zlojutro et al., 2006; Rubicz et al., 2010; Raff et al., 2010 ), and Chuckchi and Siberian Eskimo sequences (Starikovskaya et al., 1998; Derenko et al., 2007; Tam et al., 2007; Achilli et al., 2008; Gilbert et al., 2008; Derenko et al., 2010; Dryomov et al., in press). We did not include the data of Shields et al. (1993), because of suspected sequencing errors (see Forster et al., 1996; Saillard et al., 2000). "
    [Show abstract] [Hide abstract] ABSTRACT: All modern Iñupiaq speakers share a common origin, the result of a recent (∼800 YBP) and rapid trans-Arctic migration by the Neo-Eskimo Thule, who replaced the previous Paleo-Eskimo inhabitants of the region. Reduced mitochondrial haplogroup diversity in the eastern Arctic supports the archaeological hypothesis that the migration occurred in an eastward direction. We tested the hypothesis that the Alaskan North Slope served as the origin of the Neo- and Paleo-Eskimo populations further east. We sequenced HVR I and HVR II of the mitochondrial D-loop from 151 individuals in eight Alaska North Slope communities, and compared genetic diversity and phylogenetic relationships between the North Slope Inupiat and other Arctic populations from Siberia, the Aleutian Islands, Canada, and Greenland. Mitochondrial lineages from the North Slope villages had a low frequency (2%) of non-Arctic maternal admixture, and all haplogroups (A2, A2a, A2b, D2a, and D4b1a-formerly known as D3) found in previously sequenced Neo- and Paleo-Eskimos and living Inuit and Eskimo peoples from across the North American Arctic. Lineages basal for each haplogroup were present in the North Slope. We also found the first occurrence of two haplogroups in contemporary North American Arctic populations: D2a, previously identified only in Aleuts and Paleo-Eskimos, and the pan-American C4. Our results yield insight into the maternal population history of the Alaskan North Slope and support the hypothesis that this region served as an ancestral pool for eastward movements to Canada and Greenland, for both the Paleo-Eskimo and Neo-Eskimo populations Am J Phys Anthropol, 2015. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.
    Full-text · Article · Apr 2015
    • "Y STR analysis has also been shown to provide a non-invasive means first for performing fetal sex determination [30] and later for fetal male paternity analysis using maternal plasma DNA starting at as little as 12 weeks of gestation [31] [32]. Y STRs have also been used to investigate male lineages [33] [34] [35] [36] and infer patterns of migration [37] [38] [39] [40]. In an interesting example, four-marker Y STR haplotypes were used to exclude a male individual from the ancient Königsfelder paternal lineage despite archaeological evidence indicating a patrilineal association [41]. "
    [Show abstract] [Hide abstract] ABSTRACT: Short tandem repeat (STR) markers are the cornerstone of forensic identity and kinship testing. Markers located on the X and the Y chromosome can complement those found on the autosomes, which are commonly used in laboratories today. The distinctive inheritance pattern of the sex chromosomes affords advantages to the investigation of family pedigrees required by mass disaster victim identification or missing persons cases, as well as mixed samples typically recovered in sexual assault crimes. This review aims to provide an overview of how X and Y STR markers are currently being used in forensic laboratories, including the applications which target their use, the markers and multiplexes facilitating recovery of this genetic information, and the tools available to interpret the resulting data. Emerging research topics are considered as well as issues requiring further study for both marker systems. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.
    Article · Mar 2015
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