Multidisciplinary Approach to the Study of Ethnogenesis: Genogeography and Phylogeography of Tuvan Tribal Groups

Introduction. The territory of South Siberia has historically been a crossroads of ancient migration routes. So, the complex process of ethnogenesis across the region requires multidisciplinary insights of historians, ethnographers, anthropologists, linguists, and geneticists. Goals. The work aims to substantiate the possibility of a comprehensive study of Tuvan tribal groups on the basis of the latter’s gene pools and structures. Materials and methods. The most efficient tool thereto is the Y chromosome since it is inherited — like the clan/tribal name proper — paternally, has a high variety, makes it possible to reconstruct migration waves, and may yield genetic dates. These properties of the Y chromosome make it an additional historical source within comprehensive ethnographic, historical, linguistic, anthropological, and genetic studies of ancestral groups among peoples to have retained the memory of clan/tribal structures. Results. The early 21st century has witnessed an intensive research of the Tuvan Y-chromosomal gene pool — with no sufficient data on corresponding tribal groups mentioned. The analysis of Tuvan tribal structures is complicated by a number of factors, such as the administrative/territorial system of the Qing Empire in Tuva (1757–1912), introduction of a passport system in Tuva (1945–1947) when not clan/tribal names but rather personal ones were registered as surnames, and an increase in unmarried cohabitation that violates the patrilineal system. Y-chromosomal analyses of the largest Tuvan tribal groups Mongush and Oorzhak show that the bulk of their gene pool are North Eurasian haplogroups (N*, N1a2, N3a, Q) associated with the autochthonous population of the area nowadays inhabited by Tuvans. At the same time, Central Asian haplogroups (C2, O2) make up less than a fifth (17 %) of the gene pool. A targeted analysis of the most frequent branch (C2a1a2a2a2-SK1066) of the Central Asian haplogroup C2 shows it had originated about 900 years ago in the territory of Northeast Mongolia, and thus could not have reached Tuva before the 11th–12th centuries AD. Anthropological data also attest to the late admixture of the Central Asian cluster into the Tuvans and their tribal groups. The North Eurasian haplogroups completely dominate within the gene pool of tribal groups Kol, Oyun, and Khertek, which results in that the share of Central Asian lineages drops to 3%. Conclusions. In general, the paper shows the Mongolian expansion had no essential genetic impacts on the Y-chromosomal gene pool of Tuvan tribal groups, but — in contrast — did overwhelmingly influence ethnocultural, economic, and linguistic spheres

Origin and spread of human mitochondrial DNA haplogroup U7

Human mitochondrial DNA haplogroup U is among the initial maternal founders in Southwest Asia and Europe and one that best indicates matrilineal genetic continuity between late Pleistocene hunter-gatherer groups and present-day populations of Europe. While most haplogroup U subclades are older than 30 thousand years, the comparatively recent coalescence time of the extant variation of haplogroup U7 (~16–19 thousand years ago) suggests that its current distribution is the consequence of more recent dispersal events, despite its wide geographical range across Europe, the Near East and South Asia. Here we report 267 new U7 mitogenomes that – analysed alongside 100 published ones – enable us to discern at least two distinct temporal phases of dispersal, both of which most likely emanated from the Near East. The earlier one began prior to the Holocene (~11.5 thousand years ago) towards South Asia, while the later dispersal took place more recently towards Mediterranean Europe during the Neolithic (~8 thousand years ago). These findings imply that the carriers of haplogroup U7 spread to South Asia and Europe before the suggested Bronze Age expansion of Indo-European languages from the Pontic-Caspian Steppe region

The genetic history of admixture across inner Eurasia

https://www.ncbi.nlm.nih.gov/pubmed/31036896The indigenous populations of inner Eurasia-a huge geographic region covering the central Eurasian steppe and the northern Eurasian taiga and tundra-harbour tremendous diversity in their genes, cultures and languages. In this study, we report novel genome-wide data for 763 individuals from Armenia, Georgia, Kazakhstan, Moldova, Mongolia, Russia, Tajikistan, Ukraine and Uzbekistan. We furthermore report additional damage-reduced genome-wide data of two previously published individuals from the Eneolithic Botai culture in Kazakhstan (~5,400 BP). We find that present-day inner Eurasian populations are structured into three distinct admixture clines stretching between various western and eastern Eurasian ancestries, mirroring geography. The Botai and more recent ancient genomes from Siberia show a decrease in contributions from so-called 'ancient North Eurasian' ancestry over time, which is detectable only in the northern-most 'forest-tundra' cline. The intermediate 'steppe-forest' cline descends from the Late Bronze Age steppe ancestries, while the 'southern steppe' cline further to the south shows a strong West/South Asian influence. Ancient genomes suggest a northward spread of the southern steppe cline in Central Asia during the first millennium BC. Finally, the genetic structure of Caucasus populations highlights a role of the Caucasus Mountains as a barrier to gene flow and suggests a post-Neolithic gene flow into North Caucasus populations from the steppe

Ancient human genomes suggest three ancestral populations for present-day Europeans

We sequenced the genomes of a ~7,000-year-old farmer from Germany and eight ~8,000-year-old hunter-gatherers from Luxembourg and Sweden. We analysed these and other ancient genomes ¹⁻⁴ with 2,345 contemporary humans to show thatmost present-day Europeans derive from atleast three highly differentiated populations: west European hunter-gatherers, who contributed ancestry to all Europeans but not to Near Easterners; ancient north Eurasians related to Upper Palaeolithic Siberians³, who contributed to both Europeans and Near Easterners; and early European farmers, who were mainly of Near Eastern origin but also harboured west European hunter-gatherer related ancestry. We model these populations' deep relationships and show that early European farmers had 44% ancestry from a 'basal Eurasian' population that split before the diversification of other non-African lineages

Ancient human genomes suggest three ancestral populations for present day Europeans

We sequenced genomes from a $\sim$7,000 year old early farmer from Stuttgart in Germany, an $\sim$8,000 year old hunter-gatherer from Luxembourg, and seven $\sim$8,000 year old hunter-gatherers from southern Sweden. We analyzed these data together with other ancient genomes and 2,345 contemporary humans to show that the great majority of present-day Europeans derive from at least three highly differentiated populations: West European Hunter-Gatherers (WHG), who contributed ancestry to all Europeans but not to Near Easterners; Ancient North Eurasians (ANE), who were most closely related to Upper Paleolithic Siberians and contributed to both Europeans and Near Easterners; and Early European Farmers (EEF), who were mainly of Near Eastern origin but also harbored WHG-related ancestry. We model these populations' deep relationships and show that EEF had $\sim$44% ancestry from a "Basal Eurasian" lineage that split prior to the diversification of all other non-African lineages