University of Pennsylvania ScholarlyCommons Publicly Accessible Penn Dissertations 2015 Genetic Diversity in Svaneti and Highland Western Georgia Aram Yardumian University of Pennsylvania, [email protected] Follow this and additional works at: https://repository.upenn.edu/edissertations Part of the Biological and Physical Anthropology Commons, Genetics Commons, and the History of Art, Architecture, and Archaeology Commons Recommended Citation Yardumian, Aram, "Genetic Diversity in Svaneti and Highland Western Georgia" (2015). Publicly Accessible Penn Dissertations. 2114. https://repository.upenn.edu/edissertations/2114 This paper is posted at ScholarlyCommons. https://repository.upenn.edu/edissertations/2114 For more information, please contact [email protected]. Genetic Diversity in Svaneti and Highland Western Georgia Abstract This study investigates the genetic diversity and ethnohistory of Svaneti and its neighboring highland Georgian and breakaway regions in order to better understand the complex population history of the South Caucasus. The objectives of this project are to (1) document the biological diversity in contemporary settlements in the region of Svaneti; (2) compare patterns of gene diversity with Svaneti’s western and eastern neighbors, Abkhazia and South Ossetia, respectively; and (3) determine whether gene frequencies in Svaneti are evently distributed across geographic space by characterizing any village- level structuring. We will contextualize the findings within broader studies that address major regional population settlement events during the Upper Paleolithic, Neolithic, and Metal Ages, as well as the putative ‘Alan migration’ in the 4th century AD. To accomplish these goals, biological samples were collected from participants in Svaneti for genetic analysis, providing a more thorough coverage of village districts in Svaneti than has been achieved in previous studies. In addition, local-level ethnohistorical interviews were conducted in an effort to distinguish patterns of diversity resulting from long-term inhabitation versus those arising from recent immigration into the region. These DNA samples were characterized for mitochondrial DNA and Y-chromosome variation, and the resulting data analyzed with statistical and phylogenetic methods to define the biological affinities of highland Georgian populations, and reconstruct the migration and settlement history of the region. Data from published and unpublished sources on the genetic diversity of the greater Near East and Caucasus, specifically Abkhaz and Ossete populations, were used for phylogeographic and statistical comparison. The results revealed reduced Y- chromosome haplogroup diversity in Svans, with a predominance of G2a, although their paternal lineages occurred at frequencies comparable to those of neighboring highland populations. By contrast, mtDNA haplogroup diversity in Svans was both very high and reasonably similar in terms of frequency to other regional populations, with W6 and X2 occurring at unusually high frequencies. Interestingly, there was no geographic patterning of Y-chromosome or mitochondrial DNA diversity within Svaneti at the village level. Nevertheless, strong Y-chromosome affinities with eastern and western populations (i.e., Ossete and Abkhaz, respectively) living adjacent to the Svans indicated a common gene pool for these three ethno- linguistic groups in spite of linguistic differences at the language family level, and minimal contribution to the Ossete gene pool from Indo-European-speaking Alans. Degree Type Dissertation Degree Name Doctor of Philosophy (PhD) Graduate Group Anthropology First Advisor Theodore G. Schurr Keywords Caucasus, Haplogroup, Svaneti Subject Categories Biological and Physical Anthropology | Genetics | History of Art, Architecture, and Archaeology This dissertation is available at ScholarlyCommons: https://repository.upenn.edu/edissertations/2114 GENETIC DIVERSITY IN SVANETI AND THE HIGHLAND WESTERN CAUCASUS Aram Yardumian A DISSERTATION In Anthropology Presented to the Faculties of the University of Pennsylvania in Partial Fulfillment of the Requirements for the Degree of Doctor of Philosophy 2015 Supervisor of Dissertation _________________________ Theodore G. Schurr Professor of Anthropology Graduate Group Chairperson _________________________ Deborah A. Thomas Professor of Anthropology Dissertation Committee Dr. Lauren Ristvet Associate Professor of Anthropology Dr. Brian Spooner Professor of Anthropology GENETIC DIVERSITY IN SVANETI AND THE HIGHLAND WESTERN CAUCASUS COPYRIGHT 2015 Aram Yardumian This work is licensed under the Creative Commons Attribution- NonCommercial-ShareAlike 3.0 License To view a copy of this license, visit http://creativecommons.org/licenses/by-ny-sa/2.0/ ii კუძღკნი გიორგი ქავთარაძე and to my stepfather, Gerald Hurst iii ABSTRACT GENETIC DIVERSITY IN SVANETI AND THE HIGHLAND WESTERN CAUCASUS Aram Yardumian Prof. Theodore G. Schurr This study investigates the genetic diversity and ethnohistory of Svaneti and its neighboring highland Georgian and breakaway regions in order to better understand the complex population history of the South Caucasus. The objectives of this project are to (1) document the biological diversity in contemporary settlements in the region of Svaneti; (2) compare patterns of gene diversity with Svaneti’s western and eastern neighbors, Abkhazia and South Ossetia, respectively; and (3) determine whether gene frequencies in Svaneti are evently distributed across geographic space by characterizing any village-level structuring. We will contextualize the findings within broader studies that address major regional population settlement events during the Upper Paleolithic, Neolithic, and Metal Ages, as well as the putative ‘Alan migration’ in the 4th century AD. To accomplish these goals, biological samples were collected from participants in Svaneti for genetic analysis, providing a more thorough coverage of village districts in Svaneti than has been achieved in previous studies. In addition, local-level ethnohistorical interviews were conducted in an effort to distinguish patterns of diversity resulting from long-term inhabitation versus those arising from recent immigration into the region. These DNA samples were characterized for mitochondrial DNA and Y-chromosome variation, and the resulting data analyzed with statistical and phylogenetic methods to define the biological affinities of highland Georgian populations, and reconstruct the migration and settlement history of the region. Data from published and unpublished sources on the genetic diversity of the greater Near East and Caucasus, specifically Abkhaz and Ossete populations, were used for phylogeographic and statistical comparison. The results revealed reduced Y-chromosome haplogroup diversity in Svans, with a predominance of G2a, although their paternal lineages occurred at frequencies comparable to those of neighboring highland populations. By contrast, mtDNA haplogroup diversity in Svans was both very high and reasonably similar in terms of frequency to other regional populations, with W6 and X2 occurring at unusually high frequencies. Interestingly, there was no geographic patterning of Y-chromosome or mitochondrial DNA diversity within Svaneti at the village level. Nevertheless, strong Y- chromosome affinities with eastern and western populations (i.e., Ossete and Abkhaz, respectively) living adjacent to the Svans indicated a common gene pool for these three ethno-linguistic groups in spite of linguistic differences at the language family level, and minimal contribution to the Ossete gene pool from Indo-European-speaking Alans. iv TABLE OF CONTENTS TITLE PAGE………………………………………………………………………………………i COPYRIGHT NOTICE…………………………………………………………………………...ii DEDICATION……………………………………………………………………………………iii ABSTRACT……………………………………………………………………………………...iv TABLE OF CONTENTS…………………………………………………………………………v LIST OF FIGURES, TABLES, AND APPPENDICES…………………………………………vii I. THE HIGHLAND NORTHWEST CAUCASUS……………………………………………….1 Ia. Aims of the Project……………………………………………………………………………..1 Ib. The Geography and History of Svaneti………………………………………………………...2 Ic. Abkhazia and Ossetia: Their History and Ethnogenesis in Brief……………………………..16 Id. Objectives of the Dissertation…………………………………………………………………19 II: PREHISTORY OF THE CAUCASUS………………………………………………………..24 IIa. The Caucasus as a Geographic Entity……………………………………………………….26 IIb. The Archaeological Record of the Caucasus………………………………………………...35 IIb1. The Caucasian Paleolithic…………………………………………………………………..35 IIb2. The Caucasian Epipaleolithic……………………………………………………………….49 IIb3. The Caucasian Neolithic……………………………………………………………………54 IIb4. The Caucasian Metal Age…………………………………………………………………..63 IIc. Genetic Variation in the Caucasus……………………………………………………………89 IId. Linguistic Diversity in the Caucasus………………………………………………………..104 IIe. Summary…………………………………………………………………………………….114 III: METHODS………………………………………………………………………………….116 IIIa. Conception and Funding of the Project……………………………………………………116 v IIIb. Sample Collection and DNA Isolation……………………………………………………117 IIIc. Molecular Genetic Analysis………………………………………………………………..118 IIId. Genetic Data Analysis……………………………………………………………………...120 IIIe. Comparative Data…………………………………………………………………………..124 IV: RESULTS …………………………………………………………………………………..126 IVa. mtDNA diversity…………………………………………………………………………..126 IVb. Y-chromosome diversity…………………………………………………………………..143 V: DISCUSSION ……………………………………………………………………………….162 Va. Overview……………………………………………………………………………………162 Vb. Mitochondrial