Ancestral Asian Source(s) of New World Y-Chromosome Founder Haplotypes

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Presentation transcript:

Ancestral Asian Source(s) of New World Y-Chromosome Founder Haplotypes T.M. Karafet, S.L. Zegura, O. Posukh, L. Osipova, A. Bergen, J. Long, D. Goldman, W. Klitz, S. Harihara, P. de Knijff, V. Wiebe, R.C. Griffiths, A.R. Templeton, M.F. Hammer  The American Journal of Human Genetics  Volume 64, Issue 3, Pages 817-831 (March 1999) DOI: 10.1086/302282 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Approximate geographic locations of 60 study populations. Numeric population codes are as defined in table 1. The 15 North Asian populations are allocated to the following four subgroups: Nentsi/Komi (16–18), Kets/Selkups (19 and 20), Baikal Region (21–26), and Northeast Siberians (27–30). The American Journal of Human Genetics 1999 64, 817-831DOI: (10.1086/302282) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Time-scaled gene tree for 14 unique Y-chromosome haplotypes. Each dot represents a mutational event at one of 12 biallelic sites on the nonrecombining portion of the Y chromosome. Note that two mutational events (10831.1 and 10831.2) occurred at position 10831 in the SRY region and that, in the coalescence analysis, they were treated as separate mutations. Mutational ages (in 1,000s of years) are indicated on the Y-axis, and the haplotypes defined by these mutational events are shown on the X-axis. The American Journal of Human Genetics 1999 64, 817-831DOI: (10.1086/302282) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 3 Combination-haplotype network showing the DXYS156Y and DYS19 microsatellite variation associated with haplotypes 1C and 1G. For frequencies >40%, haplotype designations are given within the circles, and, for frequencies <10%, haplotype designations are given near the circles, where the number after the hyphen refers to DXYS156Y alleles 9–13 and where the letter following that number refers to DYS19 alleles Z–D. Circled areas reflect relative global haplotype frequencies. The network was constructed by starting with the most frequent combination haplotype and then adding adjacent haplotypes that differed by a single mutational step. Each cross-hatch indicates a single microsatellite mutation, and the blackened circle represents the DYS199 C→T transition. Three-letter codes to the right of each circle denote the geographic locations of populations possessing the combination haplotype: NAM = Native Americans; ASI = Asians; AFR = Africans; EUR = Europeans; AUS = Australasians. The American Journal of Human Genetics 1999 64, 817-831DOI: (10.1086/302282) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 4 Genetic maps based on a principal-components decomposition of the R matrix, derived from 14 unique haplotypes. a, Genetic map of composite populations from eight geographic regions (blackened diamonds) and 14 unique haplotypes (crosses). The populations included within each geographic region, as well as the geographic codes, are listed in table 1. b, Genetic map of 38 Native American and Asian populations. The three-letter population codes are those shown in table 1, except for the following: Esk = Siberian Eskimos; Evk = Siberian Evenks; Fne = Forest Nentsi; Kre = Koreans; Mev = Manchurian Evenks; Mxe = Mixe; Sch = South Chinese; Sea = Southeast Asian; Tne = Tundra Nentsi. The American Journal of Human Genetics 1999 64, 817-831DOI: (10.1086/302282) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 5 Nested cladistic design for 14 unique Y-chromosome haplotypes. Ovals contain one-step clades, which are designated “1-1”–“1-6.” Rectangles contain two-step clades, which are designated “2-1”–“2-3.” A single three-step clade, 3-1, encompasses the entire cladogram. Cross-hatches refer to the mutational events shown in fig. 2. The American Journal of Human Genetics 1999 64, 817-831DOI: (10.1086/302282) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 6 Alternative models for the origin of New World founder haplotypes. Numbers in circles on the solid-lined arrows refer to models 1–3 as defined in the text. These illustrative arrows do not denote precisely defined geographic routes. The dotted lines extending into the large circle indicate the possible ancestral homeland of the Kets/Selkups (haplotype 1C-12A) and of the Baikal Region populations (haplotype 1F-11C). The American Journal of Human Genetics 1999 64, 817-831DOI: (10.1086/302282) Copyright © 1999 The American Society of Human Genetics Terms and Conditions