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

Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, TX 78245-0549, USA.
American Journal of Physical Anthropology (Impact Factor: 2.38). 09/2010; 143(1):62-74. 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.

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    • "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). "
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    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.
    American Journal of Physical Anthropology 04/2015; 157(4). DOI:10.1002/ajpa.22750 · 2.38 Impact Factor
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    • "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]. "
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    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.
    Forensic Science International: Genetics 03/2015; 18. DOI:10.1016/j.fsigen.2015.03.013 · 4.60 Impact Factor
    • "Circle sizes are proportional to the number of mtDNA's with that haplotype. The data have been taken from published and unpublished sources (N = 35): (Der Sarkissian et al., 2013; Ingman and Gyllensten, 2007; Kaessmann et al., 2002; Kong et al., 2003; Li et al., 2007; Mishmar et al., 2003; Moilanen et al., 2003; Rubicz et al., 2010; Sajantila et al., 1995), (GenBank: FJ493515.1). modern Polish population is estimated as 1 per 100 individuals (Southern et al., 2007; EWGCFG, 1990). "
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    ABSTRACT: We attempted to confirm the resemblance of a local medieval population and to reconstruct their contribution to the formation of the modern Polish population at the DNA level. The HVR I mtDNA sequence and two nuclear alleles, LCT-13910C/T SNP and deltaF508 CFTR, were chosen as markers since the distribution of selected nuclear alleles varies among ethnic groups. A total of 47 specimens were selected from a medieval cemetery in Cedynia (located in the western Polish lowland). Regarding the HVR I profile, the analyzed population differed from the present-day population (P=0.045, Fst=0.0103), in contrast to lactase persistence (LP) based on the LCT-13910T allele, thus indicating the lack of notable frequency changes of this allele during the last millennium (P=0.141). The sequence of the HVR I mtDNA fragment allowed to identify six major haplogroups including H, U5, T, K, and HV0 within the medieval population of Cedynia which are common in today's central Europe. An analysis of haplogroup frequency and its comparison with modern European populations shows that the studied medieval population is more closely related to Finno-Ugric populations than to the present Polish population. Identification of less common haplogroups, i.e., Z and U2, both atypical of the modern Polish population and of Asian origin, provides evidence for some kind of connections between the studied and foreign populations. Furthermore, a comparison of the available aDNA sequences from medieval Europe suggests that populations differed from one another and a number of data from other locations are required to find out more about the features of the medieval gene pool profile. Copyright © 2015 Elsevier GmbH. All rights reserved.
    HOMO - Journal of Comparative Human Biology 03/2015; 66(3). DOI:10.1016/j.jchb.2014.11.003 · 0.73 Impact Factor
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