DOCSLIB.ORG

Diversity of Mitochondrial DNA Haplogroups in Ethnic Populations of the Volgaðural Region M

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Diversity of Mitochondrial DNA Haplogroups in Ethnic Populations of the Volgaðural Region M Molecular Biology, Vol. 36, No. 6, 2002, pp. 802–812. Translated from Molekulyarnaya Biologiya, Vol. 36, No. 6, 2002, pp. 990–1001. Original Russian Text Copyright © 2002 by Bermisheva, Tambets, Villems, Khusnutdinova. GENOMICS. TRANSCRIPTOMICS. PROTEOMICS UDC 575.174.599.9 Diversity of Mitochondrial DNA Haplogroups in Ethnic Populations of the Volga–Ural Region M. A. Bermisheva1, K. Tambets2, R. Villems2, and E. K. Khusnutdinova1 1 Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences, Ufa, 450054 Russia; E-mail: [email protected] 2 Estonian Biological Center, Tartu University, Tartu, Estonia Received February 28, 2002 Abstract—The mtDNA polymorphism was analyzed in eight ethnic groups (N = 979) of the Volga–Ural region. Most mtDNA variants belonged to haplogroups H, U, T, J, W, I, R, and N1 characteristic of West Eurasian pop- ulations. The most frequent were haplogroups H (12–42%) and U (18–44%). East Eurasian mtDNA types (A, B, Y, F, M, N9) were also observed. Genetic diversity was higher in Turkic than in Finno-Ugric populations. The frequency of mtDNA types characteristic of Siberian and Central Asian populations substantially increased in the ethnic groups living closer to the Urals, a boundary between Europe and Asia. Geographic distances, rather than linguistic barriers, were assumed to play the major role in distribution of mtDNA types in the Volga– Ural region. Thus, as concerns the maternal lineage, the Finno-Ugric populations of the region proved to be more similar to their Turkic neighbors rather than to linguistically related Balto-Finnish ethnic groups. Key words: mitochondrial DNA, haplotyping, ethnogenomics, ethnic groups of the Volga–Ural region INTRODUCTION Haplogroups A, B, C, and D are the first specific Asian haplogroups that have been found in native Mitochondrial (mt) DNA and the Y chromosome Americans [9, 10]. Haplogoups C and D have a com- occupy a specific place among highly polymorphic mon ancestor in cluster M, while haplogroups A and genetic systems. Owing to the maternal inheritance, B originate from cluster N. Phylogenetically, various absence of recombination, and high polymorphism, mtDNA variants specific for Eastern Eurasia may be mtDNA can be employed as a major tool in evolution- classed into several macroclusters (Fig. 1). Macro- ary, populational, and medical genetic studies [1, 2]. clusters M and N originate from African macrocluster The variation of human mtDNA has been extensively L3, the consensus nucleotide sequence of which is studied in the 1980s and 1990s. Race- and population- considered as a common ancestor (MRCA) of all non- specific mtDNA types and mutations have been African mtDNA lineages. Haplogroups of cluster M described and used to define individual haplogroups are frequent and diverse in Asia [10] and rare in [2, 3]. A modern classification of European mtDNA Europe, which supports the hypothesis that Asia was variants is based on the combined data [4–6] on poly- first populated as a result of migration from Eastern morphisms of the control (hypervariable segments I Africa [11]. This cluster harbors about half mtDNA and II, HVSI and HVSII) [7] and coding [8] regions of variants of the indigenous population of Eastern Eur- mtDNA. The European mtDNA clusters are best orga- asia [2], and consists of several haplogroups, includ- nized owing to detailed analysis of the mtDNA varia- ing C, Z, D, G, E, M7, M8, M9, M10, etc. (Fig. 1). Supercluster N includes haplogroups A, Y, B, and F in tion in European populations. More than 90% of Asia. Haplogroup A has an ancestral nucleotide (T) in European mtDNAs belong to nine haplogroups position 16,223, whereas haplogroups B and F, along (Fig. 1), which are highly specific for Western Eurasia with most European lineages, originate from cluster R. [4, 6]. These clusters are all thought to originate from one supercluster, L3n (N). In addition, supercluster Analysis of the diversity of European mtDNA vari- L3n includes several haplogroups (A, B, F, and Y) ants has been restricted to Western and Central Europe restricted to East Eurasian populations. Five haplo- so far. In this work, we characterize the mtDNA hap- groups (H, V, J, T, and U) form cluster R, which is logroup diversity in eight East European (Volga–Ural) characterized by substitutions in mtDNA nucleotide ethnic groups representing two, Altaian and Ural, positions 12,705 and 16,223 [4]. large linguistic families. 0026-8933/02/3606-0802 $27.00 © 2002 MAIK “Nauka /Interperiodica” MITOCHONDRIAL DNA HAPLOGROUPS 803 EXPERIMENTAL D C Material for population genetic analysis was collected during expeditions from 1989 to 2001. Z Blood of informed adults was obtained after medical M examination. In total, we tested 979 DNA specimens E of the indigenous populations of the Volga–Ural Root region, including 221 Bashkirs (Trans-Ural, South- of the tree western, Northeastern, and Gaininsk Bashkirs) from L3 G the Beloretskii, Sterlibashevskii, and Ilishevskii Dis- tricts of Bashkortostan and the Perm Region; 228 A Tatars from the Al’met’evskii and Elabuzhskii Dis- I tricts of Tatarstan; 55 Chuvash from the Morgaushskii N Y District of Chuvashia; 102 Mordvinians from the X Staro-Shaiginskii District of Mordovia; 136 Mari in Eastern Eurasia B from the Zvenigovskii District of Marii El; W 101 Udmurts from the Malo-Purginskii District of in W occurring mostly R Haplogroups occurring mostly Haplogroups U Udmurtia and the Tatyshlinskii District of Bashkor- K F tostan; 62 Komi-Zyryans from the Sysol’skii District estern Eurasia of the Komi Republic; and 74 Komi-Permyaks from J the Komi-Permyak Autonomous District. T H V Genomic DNA was isolated from 10 ml of periph- eral blood by phenol–chloroform extraction. Frag- ment 16,024–16,400 of mtDNA HVSI was sequenced in a Perkin-Elmer ABI 377 DNA sequencer with a DYEnamic ET terminator cycle sequencing premix kit (Amersham Pharmacia Biotech). Fig. 1. Phylogenetic tree of mtDNA clusters found in Eur- asian populations. Haplogroups were identified by mtDNA RFLPs, including 73 (73GA) –Alw44I, 663 (663AG) +HaeIII, 1715 (1719GA) –DdeI, 4577 (4580GA) –NlaIII, 4643 RESULTS AND DISCUSSION (4646TC) +RsaI, 4830 (4833AG) +HaeII, 5176 (5178CA) –AluI, 5416 (5417 GA) +TasI, 5656 The indigenous population of the Volga–Ural (5656AG) +NheI, 7025 (7028CT) –AluI, 7598 region is ethnically, historically, and culturally heter- (7600GA) –HhaI, 8249 (8251CT) +AvaII, 8994 ogeneous. Ethnic groups of the region belong to dif- (8994GA) –HaeIII, 9052 (9055GA) –HaeII, 10,032 ferent language groups, including the Perm (Komi- (10,034TC) +AluI, 10,394 (10,398AG) +DdeI, 10,397 Zyryans, Komi-Permyaks, Udmurts) and Volga-Finn- (10,400CT) +AluI, 12,308 (12,308AG) +HinfI, ish (Mordvinians, Mari) branches of the Ural lan- 12,406 (12,406GA) –HincII, 12,704 (12,705CT) guage family and the Turkic branch of the Altaian lan- −MboII, 13,262 (13,263AG) +AluI, 13,366 guage family (Bashkirs, Tatars, Chuvash). Anthropo- (13,368GA) +BamHI, 13,704 (13,708GA) –BstI, logically, these ethnic groups are Caucasian and have 14,068 (14,070AG) +TaqI, 14,766 (14,766TC) +MseI, a varying Mongoloid component [12]. The region and 15,904 (15,904CT) +MseI. Transition or transver- includes various geographic zones, from taiga, tundra sion resulting in a gain or loss of a restriction site is (Komi-Zyryans) and Central Volga plains (Mordvin- indicated in parentheses. Mutations in mtDNA were ians, Mari, Chuvash, Tatars) to the Southern Urals and identified according to the Cambridge reference Trans-Ural steppe (Bashkirs) (Fig. 2). sequence (CRS) [13]. To establish the phylogenetic relationships among haplotypes, median networks We sequenced the 377-bp region (16,024–16,400) were constructed with the combined data on polymor- of mtDNA HVSI in 979 people of the eight ethnic phisms of the mtDNA coding region and HVSI for the groups of the Volga–Ural region. Haplogroups were total sample of the Volga–Ural region. identified by RFLP analysis of 26 polymorphic sites of the mtDNA coding region and analysis of the dele- Genetic heterogeneity was calculated as tion from a region between the COII and tRNALys genes. Genetic heterogeneity was relatively low (0.96) 2 H = (1 – ∑xi )N/(N – 1), in Komi-Zyryans and Udmurts, and high (0.99) in Bashkirs. Mean heterogeneity of the Turkic ethnic where xi is the frequency of an mtDNA haplotype in a groups (0.98) was higher than in the Finno-Ugric eth- population and N is the sample size [14]. nic groups (0.96). MOLECULAR BIOLOGY Vol. 36 No. 6 2002 804 BERMISHEVA et al. VII 7.1 IV VIII 3.2 8.1 III 4.1 V 5.1 The Urals 5.2 3.1 VI 2.1 IX 2.2 9.1 II 6.1 1.5 1.3 1.6 1.4 I 1.2 1.1 Fig. 2. Geographic regions occupied by (1.1) Trans-Ural, (1.2) Southwestern, (1.3) Northwestern, and (1.4) Northeastern Bashkirs and (1.5) Udmurts of (I) Bashkortostan; (2.1) Kazan and (2.2) Mishari Tatars of (II) Tatarstan; (3.1) Low and (3.2) Mid-Low Chu- vash of (III) Chuvashia; (4.1) Meadow Mari of (IV) Marii El; (5.1) Erzya and (5.2) Moksha Mordvinians of (V) Mordovia; (6.1) Southern Udmurts of (VI) Udmurtia; (7.1) Komi-Zyryans of (VII) the Komi Republic; and (8.1) Komi-Permyak of (VIII) the Komi-Permyak Autonomous District. Haplogroup-determining HVSI motifs found in the This cluster had a stellate phylogenetic tree with the Volga–Ural populations are shown in Table 1. On evi- center occupied by the Cambridge sequence [13], dence of cluster analysis, most mtDNA types were which represents the mtDNA type most common in assigned to haplogroups specific for West Eurasian Europe [4, 5]. populations (Table 2). Haplogroup H has a sister haplogroup V.
Load more

Recommended publications
  • Y-Chromosome Polymorphisms in Southern Arabia Alicia M
    Florida International University FIU Digital Commons FIU Electronic Theses and Dissertations University Graduate School 11-8-2006 Y-chromosome polymorphisms in southern Arabia Alicia M. Cadenas Florida International University DOI: 10.25148/etd.FI14052526 Follow this and additional works at: https://digitalcommons.fiu.edu/etd Part of the Forensic Science and Technology Commons Recommended Citation Cadenas, Alicia M., "Y-chromosome polymorphisms in southern Arabia" (2006). FIU Electronic Theses and Dissertations. 1962. https://digitalcommons.fiu.edu/etd/1962 This work is brought to you for free and open access by the University Graduate School at FIU Digital Commons. It has been accepted for inclusion in FIU Electronic Theses and Dissertations by an authorized administrator of FIU Digital Commons. For more information, please contact [email protected]. FLORIDA INTERNATIONAL UNIVERSITY Miami, Florida Y-CHROMOSOME POLYMORPHISMS IN SOUTHERN ARABIA A thesis submitted in partial fulfillment of the requirements for the degree of MASTER OF SCIENCE in FORENSIC SCIENCE by Alicia M. Cadenas 2006 To: Interim Dean Mark Szuchman College of Arts and Sciences This thesis, written by Alicia M. Cadenas, and entitled Y-Chromosome Polymorphisms in Southern Arabia, having been approved in respect to style and intellectual content, is referred to you for judgment. We have read this thesis and recommend that it be approved. Fernando G. Noriega George T. Du can Rene J. Herrera, Major Professor Date of Defense: November 8, 2006 The thesis of Alicia M. Cadenas is approved. Interim 'ean Mark Szuchman College of Arts and Sciences Dean George Walker University Graduate School Florida International University, 2006 ii ACKNOWLEDGMENTS I would like to thank my committee members Dr.
    [Show full text]
  • Ancient Mitochondrial DNA from Pre-Historic
    Grand Valley State University ScholarWorks@GVSU Masters Theses Graduate Research and Creative Practice 4-30-2011 Ancient Mitochondrial DNA From Pre-historic Southeastern Europe: The rP esence of East Eurasian Haplogroups Provides Evidence of Interactions with South Siberians Across the Central Asian Steppe Belt Jeremy R. Newton Grand Valley State University Follow this and additional works at: http://scholarworks.gvsu.edu/theses Part of the Cell Biology Commons, and the Molecular Biology Commons Recommended Citation Newton, Jeremy R., "Ancient Mitochondrial DNA From Pre-historic Southeastern Europe: The rP esence of East Eurasian Haplogroups Provides Evidence of Interactions with South Siberians Across the Central Asian Steppe Belt" (2011). Masters Theses. 5. http://scholarworks.gvsu.edu/theses/5 This Thesis is brought to you for free and open access by the Graduate Research and Creative Practice at ScholarWorks@GVSU. It has been accepted for inclusion in Masters Theses by an authorized administrator of ScholarWorks@GVSU. For more information, please contact [email protected]. ANCIENT MITOCHONDRIAL DNA FROM PRE-HISTORIC SOUTH- EASTERN EUROPE: THE PRESENCE OF EAST EURASIAN HAPLOGROUPS PROVIDES EVIDENCE OF INTERACTIONS WITH SOUTH SIBERIANS ACROSS THE CENTRAL ASIAN STEPPE BELT A thesis submittal in partial fulfillment of the requirements for the degree of Master of Science By Jeremy R. Newton To Cell and Molecular Biology Department Grand Valley State University Allendale, MI April, 2011 “Not all those who wander are lost.” J.R.R. Tolkien iii ACKNOWLEDGEMENTS I would like to extend my sincerest thanks to every person who has motivated, directed, and encouraged me throughout this thesis project. I especially thank my graduate advisor, Dr.
    [Show full text]
  • Mitochondrial
    Proc. Natl. Acad. Sci. USA Vol. 91, pp. 1158-1162, February 1994 Genetics Mitochondrial DNA "clock" for the Amerinds and its implications for timing their entry into North America (Amerind mlgrations/Chibeba time depth/Amerind mtDNA evolution) ANTONIO TORRONI*t, JAMES V. NEELt, RAMIRO BARRANTES§, THEODORE G. SCHURR*, AND DOUGLAS C. WALLACE* Departments of *Genetics and Molecular Medicine and lAnthropology, Emory University, Atlanta, GA 30322; tDepartment of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109-0618; and fEscuela de Biologia, Universidad de Costa Rica, San Jose, Costa Rica Contributed by James V. Neel, October 11, 1993 ABSTRACT Students of the time of entry of the ancestors erinds are defined primarily by four sets of specific muta- of the Amerinds into the New World are divided into two tions that cluster in four haplotype groups (haplogroups), camps, one favoring an "early" entry [more than approxi- termed A, B, C, and D. Moreover, the observation that each mnately 30,000 years before the present (YBP)], the other of these haplogroups was apparently founded by a single favoring a "late" entry (less than approximately 13,000 YBP). haplotype present in Asia permitted a quantification of the An "intermediate" date is unlikely for geological reasons. The mtDNA variation that had accumulated within each ofthose correlation of the appropriate data on mtDNA variation in haplogroups from the time of the first human arrival in the Amerinds with lin s, archaeological, and genetic data Americas (13). offers the possibility of establishing a time frame for tDNA We have also recently developed, from archeological, evolution in Amerinds.
    [Show full text]
  • Origins of the Japanese Languages. a Multidisciplinary Approach”
    MASTERARBEIT / MASTER’S THESIS Titel der Masterarbeit / Title of the Master’s Thesis “Origins of the Japanese languages. A multidisciplinary approach” verfasst von / submitted by Patrick Elmer, BA angestrebter akademischer Grad / in partial fulfilment of the requirements for the degree of Master of Arts (MA) Wien, 2019 / Vienna 2019 Studienkennzahl lt. Studienblatt / A 066 843 degree programme code as it appears on the student record sheet: Studienrichtung lt. Studienblatt / Masterstudium Japanologie UG2002 degree programme as it appears on the student record sheet: Betreut von / Supervisor: Mag. Dr. Bernhard Seidl Mitbetreut von / Co-Supervisor: Dr. Bernhard Scheid Table of contents List of figures .......................................................................................................................... v List of tables ........................................................................................................................... v Note to the reader..................................................................................................................vi Abbreviations ....................................................................................................................... vii 1. Introduction ................................................................................................................. 1 1.1. Research question ................................................................................................. 1 1.2. Methodology ........................................................................................................
    [Show full text]
  • Matrilineal and Patrilineal Genetic Continuity of Two Iron Age Individuals from a Pazyryk Culture Burial
    © Kamla-Raj 2019 Int J Hum Genet, 19(1): 29-47 (2019) PRINT: ISSN 0972-3757 ONLINE: ISSN 2456-6330 DOI: 10.31901/24566330.2019/19.01.709 Matrilineal and Patrilineal Genetic Continuity of Two Iron Age Individuals from a Pazyryk Culture Burial Dmitrii G. Tikhonov1, Cemal Gurkan2, 3,*, Gokce Y. A. Peler4 and Victor M. Dyakonov5 1Scientific Research Institute of Health, North-Eastern Federal University, Yakutsk, Sakha Republic, Russian Federation 2Turkish Cypriot DNA Laboratory, Committee on Missing Persons in Cyprus Turkish Cypriot Member Office, Nicosia (North Cyprus), Turkey 3Dr. Fazil Kucuk Faculty of Medicine, Eastern Mediterranean University, Famagusta, (North Cyprus), Turkey 4Department of Contemporary Turkic Languages and Literatures, Erciyes University, Kayseri, Turkey 5Archaeology Department, Institute for Humanitarian Research and Problems of Indigenous People of the North, Siberian Branch of the Russian Academy of Sciences, Yakutsk, Sakha Republic, Russian Federation KEYWORDS Ak-Alakha. Ancient DNA. Scythian. Saka. Turkic ABSTRACT In this study, geographic and linguistic distributions of contemporary and ancient matches with the paternal and maternal lineages of two individuals exhumed from the exemplary Pazyryk culture burial site of Ak- Alakha-1 mound 1 were investigated. Using the shared paternal and maternal haplotypes observed in both ancient individuals, extensive database and literature searches were conducted revealing numerous full matches among contemporary Eurasians, majority of whom speak Altaic Languages. Despite the current focus on the two Pazyryk individuals, a rare glimpse into the ancient migrations was gained through the discovery of paternal and maternal haplotype matches across an immense geography that spans from Yakutia to Turkey. In addition to a vast array of archaeological findings in such Scythian “frozen graves” across Central Asia, accumulating archaeogenetic data are expected to shed light on the anthropology of these otherwise mysterious people.
    [Show full text]
  • Traces of Archaic Mitochondrial Lineages Persist in Austronesian-Speaking Formosan Populations
    Open access, freely available online PLoS BIOLOGY Traces of Archaic Mitochondrial Lineages Persist in Austronesian-Speaking Formosan Populations Jean A. Trejaut1*¤, Toomas Kivisild2, Jun Hun Loo1, Chien Liang Lee1, Chun Lin He1, Chia Jung Hsu1, Zheng Yuan Li1, Marie Lin1* 1 Transfusion Medicine Laboratory, Mackay Memorial Hospital, Taipei, Taiwan, 2 Estonian Biocentre, Tartu, Estonia Genetic affinities between aboriginal Taiwanese and populations from Oceania and Southeast Asia have previously been explored through analyses of mitochondrial DNA (mtDNA), Y chromosomal DNA, and human leukocyte antigen loci. Recent genetic studies have supported the ‘‘slow boat’’ and ‘‘entangled bank’’ models according to which the Polynesian migration can be seen as an expansion from Melanesia without any major direct genetic thread leading back to its initiation from Taiwan. We assessed mtDNA variation in 640 individuals from nine tribes of the central mountain ranges and east coast regions of Taiwan. In contrast to the Han populations, the tribes showed low a frequency of haplogroups D4 and G, and an absence of haplogroups A, C, Z, M9, and M10. Also, more than 85% of the maternal lineages were nested within haplogroups B4, B5a, F1a, F3b, E, and M7. Although indicating a common origin of the populations of insular Southeast Asia and Oceania, most mtDNA lineages in Taiwanese aboriginal populations are grouped separately from those found in China and the Taiwan general (Han) population, suggesting a prevalence in the Taiwanese aboriginal gene pool of its initial late Pleistocene settlers. Interestingly, from complete mtDNA sequencing information, most B4a lineages were associated with three coding region substitutions, defining a new subclade, B4a1a, that endorses the origin of Polynesian migration from Taiwan.
    [Show full text]
  • A Novel Subgroup Q5 of Human Y-Chromosomal Haplogroup Q in India Swarkar Sharma†1,2, Ekta Rai†1,2, Audesh K Bhat1, Amarjit S Bhanwer2 and Rameshwar NK Bamezai*1
    BMC Evolutionary Biology BioMed Central Research article Open Access A novel subgroup Q5 of human Y-chromosomal haplogroup Q in India Swarkar Sharma†1,2, Ekta Rai†1,2, Audesh K Bhat1, Amarjit S Bhanwer2 and Rameshwar NK Bamezai*1 Address: 1National Centre of Applied Human Genetics, School of Life Sciences, Jawaharlal Nehru University, New Delhi. India and 2Department of Human Genetics, Guru Nanak Dev University, Amritsar. India Email: Swarkar Sharma - [email protected]; Ekta Rai - [email protected]; Audesh K Bhat - [email protected]; Amarjit S Bhanwer - [email protected]; Rameshwar NK Bamezai* - [email protected] * Corresponding author †Equal contributors Published: 19 November 2007 Received: 15 August 2007 Accepted: 19 November 2007 BMC Evolutionary Biology 2007, 7:232 doi:10.1186/1471-2148-7-232 This article is available from: http://www.biomedcentral.com/1471-2148/7/232 © 2007 Sharma et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Background: Y-chromosomal haplogroup (Y-HG) Q is suggested to originate in Asia and represent recent founder paternal Native American radiation into the Americas. This group is delineated into Q1, Q2 and Q3 subgroups defined by biallelic markers M120, M25/M143 and M3, respectively. Recently, a novel subgroup Q4 has been identified which is defined by bi-allelic marker M346, representing HG Q (0.41%, 3/728) in Indian population. With scanty details of HG Q in Asia, especially India, it was pertinent to explore the status of the Y-HG Q in Indian population to gather an insight to determine the extent of diversity within this region.
    [Show full text]
  • Genetic Structure of the Japanese and the Formation of the Ainu Population
    Genetic structure of the Japanese and the formation of the Ainu population Ken-ichi Shinoda National Museum of Nature and Science, Tokyo Mitochondrial DNA mitochondria Structures of mtDNA nuclear genome 3 billion 16,569 base pair History of the analysis 1980’s Analysis of the DNA digestion pattern with restriction enzymes. 1990’s Analysis of sequence in a region of the mitochondrial genome that undergoes frequent mutation. 21th century Analysis of the complete DNA sequence of mitochondrial genomes. Human migration and formation of mitochondrial DNA haplogroups 60,000-20,000 BP. A X D C A B D JT A B H F U D 20,000 BP.- X I B C N U N A D R My M L2 M N M N L3 L L1 Mx M Q B C L1 N P A D L2 L3 Mz Nz L0 150,000-60,000 BP. Y Z A G C M7a N9b D4 D5 M8a M7b B5 B4 F E M7c Distribution center of each haplogroup MtDNA haplogroup frequencies of mainland Japanese N9a F N9b D4 B5 B4 M9 M8 D5 M7c M7b A M7a G Tanaka et al. 2004 Korea D4 Japan Northern China Frequency distribution of haplogroup D4 in each population Jomon vs. Yayoi 40,000 BP. 15,000 BP. B.C. 1,000 A.D. 300 Paleolithic Jomon Yayoi Historic Jomon female Immigrant Yayoi female Jomon Yoyoi The American Journal of Human Genetics 83, 445–456, October 10, 2008 Relatedness between 7003 Japanese Individuals Han Chinese 中国人 Mainland Japanese Okinawa For the Japanese individuals, there were two main clusters: the Hondo cluster (red plus signs) and the Okinawa cluster (green crosses).
    [Show full text]
  • Gene Pool of Buryats: Clinal Variability and Territorial Subdivision Based on Data of YChromosome Markers V
    ISSN 10227954, Russian Journal of Genetics, 2014, Vol. 50, No. 2, pp. 180–190. © Pleiades Publishing, Inc., 2014. Original Russian Text © V.N. Kharkov, K.V. Khamina, O.F. Medvedeva, K.V. Simonova, E.R. Eremina, V.A. Stepanov, 2014, published in Genetika, 2014, Vol. 50, No. 2, pp. 203–213. HUMAN GENETICS Gene Pool of Buryats: Clinal Variability and Territorial Subdivision Based on Data of YChromosome Markers V. N. Kharkova, K. V. Khaminaa, O. F. Medvedevaa, K. V. Simonovaa, E. R. Ereminab, and V. A. Stepanova a Institute of Medical Genetics, Siberian Branch, Russian Academy of Medical Sciences, nab. Ushaiki 10, Tomsk, 634050 Russia email: [email protected], vladimir.kharkov@medgenetics b Department of Therapy, Buryat State University, ul. Smolin 24a, UlanUde, 670000 Russia Received April 23, 2013 Abstract—The structure of the Buryat gene pool has been studied based on the composition and frequency of Ychromosome haplogroups in eight geographically distant populations. Eleven haplogroups have been found in the Buryat gene pool, two of which are the most frequent (N1c1 and C3d). The greatest difference in haplogroup frequencies was fixed between western and eastern Buryat samples. The evaluation of genetic diversity based on haplogroup frequencies revealed that it has low values in most of the samples. The evalua tion of the genetic differentiation of the examined samples using an analysis of molecular variance (AMOVA) shows that the Buryat gene pool is highly differentiated by haplotype frequencies. Phylogenetic analysis within haplogroups N1c1 and C3d revealed a strong founder effect, i.e., reduced diversity and starlike phy logeny of the median network of haplotypes that form specific subclusters.
    [Show full text]
  • Y Chromosomes of 40% Chinese Are Descendants of Three Neolithic
    Title: Y Chromosomes of 40% Chinese Are Descendants of Three Neolithic Super-grandfathers Authors: Shi Yan1,2*, Chuan-Chao Wang1, Hong-Xiang Zheng1, Wei Wang2, Zhen-Dong Qin1, Lan-Hai Wei1, Yi Wang1, Xue-Dong Pan1, Wen-Qing Fu1,4, Yun-Gang He2, Li-Jun Xiong4, Wen-Fei Jin2, Shi-Lin Li1, Yu An1, Hui Li1, Li Jin1,2* Affiliations 1Ministry of Education Key Laboratory of Contemporary Anthropology and Center for Evolutionary Biology, School of Life Sciences and Institutes of Biomedical Sciences, Fudan University, Shanghai 200433, China. 2Chinese Academy of Sciences Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, SIBS, CAS, Shanghai 200031, China. 3Epigenetics Laboratory, Institute of Biomedical Sciences, Fudan University, Shanghai 200032, China. 4Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA *Correspondence to: L. J. ([email protected]) or S. Y. ([email protected]). Abstract: Demographic change of human populations is one of the central questions for delving into the past of human beings. To identify major population expansions related to male lineages, we sequenced 78 East Asian Y chromosomes at 3.9 Mbp of the non-recombining region (NRY), discovered >4,000 new SNPs, and identified many new clades. The relative divergence dates can be estimated much more precisely using molecular clock. We found that all the Paleolithic divergences were binary; however, three strong star-like Neolithic expansions at ~6 kya (thousand years ago) (assuming a constant substitution rate of 1×10-9 /bp/year) indicates that ~40% of modern Chinese are patrilineal descendants of only three super-grandfathers at that time.
    [Show full text]
  • Genetic Reconstruction and Forensic Analysis of Chinese Shandong and Yunnan Han Populations by Co-Analyzing Y Chromosomal Strs and Snps
    G C A T T A C G G C A T genes Article Genetic Reconstruction and Forensic Analysis of Chinese Shandong and Yunnan Han Populations by Co-Analyzing Y Chromosomal STRs and SNPs 1,2, 1,2, 1,2 3 1,4 3 Caiyong Yin y, Kaiyuan Su y, Ziwei He , Dian Zhai , Kejian Guo , Xueyun Chen , Li Jin 1,2,* and Shilin Li 5,6,* 1 Department of Anthropology and Human Genetics, School of Life Sciences, Fudan University, Shanghai 200438, China; [email protected] (C.Y.); [email protected] (K.S.); [email protected] (Z.H.); [email protected] (K.G.) 2 Human Phenome Institute, Fudan University, Shanghai 200438, China 3 Criminal Investigation Department of Yunnan Province, Kunming 650021, China; [email protected] (D.Z.); [email protected] (X.C.) 4 Public Security Bureau of Zibo City, Zibo 255000, China 5 State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai 200438, China 6 Department of Forensic Medicine, School of Basic Medical Sciences, Fudan University, Shanghai 200032, China * Correspondence: [email protected] (L.J.); [email protected] (S.L.) These authors contributed equally to this work. y Received: 21 May 2020; Accepted: 2 July 2020; Published: 3 July 2020 Abstract: Y chromosomal short tandem repeats (Y-STRs) have been widely harnessed for forensic applications, such as pedigree source searching from public security databases and male identification from male–female mixed samples. For various populations, databases composed of Y-STR haplotypes have been built to provide investigating leads for solving difficult or cold cases.
    [Show full text]
  • Supplementary Appendix Table of Contents
    Supplementary Appendix This appendix has been provided by the authors to give readers additional information about their work. Table of Contents Supplementary Note ........................................................................................................................... 1 Author contributions ............................................................................................................................... 1 Additional authors from study groups .............................................................................................. 2 Task Force COVID-19 Humanitas ......................................................................................................................................... 2 TASK FORCE COVID-19 HUMANITAS GAVAZZENI & CASTELLI ............................................................................. 3 COVICAT Study Group ............................................................................................................................................................... 4 Pa COVID-19 Study Group ....................................................................................................................................................... 5 Covid-19 Aachen Study (COVAS) .......................................................................................................................................... 5 Norwegian SARS-CoV-2 Study group .................................................................................................................................
    [Show full text]