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The Central Asian component in the gene pool of the Tuvan tribal group Mongush: on the question of the Mongolian contribution to the ethnogenesis of the Tuvans
Open accessAbstract
Introduction. Historical sources, as well as ethnographic, anthropological and linguistic data, speak of a significant influence of the Mongol-speaking tribes on the ethnogenesis of the Tuvans. Instead, the degree of Mongolian influence on the gene pool can only be assessed in molecular genetic studies. In this work, according to the data of complete sequencing of the C2-M217 haplogroup, a population screening of the Y-gene pool of the most numerous Tuvan tribal group Mongush was carried out. Materials and methods. DNA isolated from venous blood samples of 98 representatives of the Mongush tribal group collected in four regions of the Republic of Tyva was analyzed. Based on the full sequencing of the C2-M217 haplogroup and bioinformatic analysis, a phylogenetic analysis was carried out, a phylogenetic tree was built, and the age of the subhaplogroups was calculated. Results and discussion. It was found that the Central Asian haplogroup C2-M217 is represented in all representatives of the Mongush tribal group by only one line – the subhaplogroup C2a1a2a2a2-SK1066. Its presence in the gene pool may be associated with the mass migration of Mongol-speaking tribes in the 12th–14th centuries, when the territory of Tuva came under the rule of Genghis Khan. At the same time, this subhaplogroup was found only in the samples of the Chaa-Khol and Barun-Khemchik kozhuuns with frequencies of 12% and 2%, respectively; in the gene pools of the Tandyn and Erzin kozhuuns, the Central Asian haplogroup C2-M217 was not found. Phylogenetic analysis based on the full sequencing of the C2-M217 haplogroup made it possible to calculate the age of the C2a1a2a2a2-SK1066 sub-haplogroup – it was about 900 years. The predominance of South Siberian Neolithic haplogroups (Q1b-YP1691, N1a2-L666, N3a5a-F4205) in the gene pool of Tuvans is consistent with the data of anthropologists that it was the South Siberian layer that played the main role in their ethnogenesis, the Central Asian contribution belongs to a later time. Conclusions. According to the full sequencing of the Central Asian haplogroup C2-M217 among representatives of the Tuvan Mongush tribal group, the expansion of the Mongol-speaking tribes into Central Asia, which had a great cultural, economic and linguistic impact on the population of Tuva, was not so significant reflected in the gene pool of Tuvans. The study confirmed the data of anthropologists about the later Central Asian contribution to the ethnogenesis of the Tuvans in comparison with the earlier and much more significant South Siberian one.
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TL;DR
Full sequencing of Y-chromosome haplogroup C2-M217 in 98 men of the Tuvan Mongush tribal group shows that the Central Asian "Mongolian" component is represented by a single subhaplogroup, C2a1a2a2a2-SK1066, dated to ~900 years and found in only two of four surveyed kozhuuns. The authors conclude that the Mongol-speaking expansion had a major ethnocultural, linguistic and anthropological impact on Tuvans but only a minor genetic one, with the earlier South Siberian (Neolithic) layer dominating the gene pool.
Key findings
- Haplogroup C2-M217 in the Mongush gene pool is represented by only one line, subhaplogroup C2a1a2a2a2-SK1066; it was detected only in the Chaa-Khol (12%) and Barun-Khemchik (2%) kozhuuns and was absent in the Tandyn and Erzin samples.
- Phylogenetic analysis of the full C2-M217 sequence dated C2a1a2a2a2-SK1066 to about 900 years and placed its region of origin in north-eastern Mongolia.
- The authors contrast this with their earlier estimate of a ~17% "Mongolian" component in the Mongush gene pool, calculated as the combined contribution of Central Asian haplogroups C and O.
- South Siberian Neolithic haplogroups (Q1b-YP1691, N1a2-L666, N3a5a-F4205) predominate in the Tuvan gene pool, which the authors say agrees with anthropological data that the South Siberian layer played the main role in Tuvan ethnogenesis, with the Central Asian contribution being later.
Methods
- DNA was extracted from venous blood by phenol-chloroform extraction from 98 unrelated Tuvan men of the Mongush tribal group, all of whose ancestors belonged to that group and had lived in the territory for at least three generations; samples came from Chaa-Khol (N=64), Barun-Khemchik (N=15), Erzin (N=5) and Tandyn (N=14) kozhuuns of the Republic of Tyva, collected with written informed consent under the ethics committee of the Federal Research Centre "MGNC" (Moscow).
- Genotyping of 22 SNP markers was performed by real-time PCR on a 7900 HT instrument (Applied Biosystems) using TaqMan technology; haplogroup nomenclature follows ISOGG-Tree 2019–2020.
- Full sequencing of C2-M217 plus bioinformatic analysis produced a genotype table used for phylogenetic analysis, a phylogenetic tree, and age estimates of subhaplogroups using a consensus mutation-rate calibration of 0.8×10⁻⁹ mutations per nucleotide per year (one mutation per ~140 years, i.e. per 4–5 generations); cartographic analysis used GeneGeo software on a "Northern Eurasia" base map.
Limitations
- The paper states no limitations section; the following are evident from the text.
- Sample sizes are very uneven and small in two kozhuuns (Erzin N=5, Tandyn N=14), so the absence of C2-M217 there may reflect sampling rather than true absence.
- The study covers a single tribal group (Mongush) and only the Y-chromosome haplogroup C2-M217, i.e. the paternal line alone, so it cannot represent the whole Tuvan gene pool or maternal contributions.
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6 Own interpretation · 5 Own result · 4 Sources not found · 1 Own method
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Филогенетический анализ по данным полного секвенирования гаплогруппы С2-М217 позволил рассчитать возраст субгаплогруппы C2a1a2a2a2-SK1066 -он составил около 900 лет, и выявить регион ее происхождения -северо-восточная Монголия.”
plain- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: passes — The paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Эта субгаплогруппа выявлена только в выборках Чаа-Хольского и Барун-Хемчикского кожуунов с частотами 12% и 2%, соответственно.”
- Also stated in: § Abstract · plain
“Вместе с тем эта субгаплогруппа выявлена только в выборках Чаа-Хольского и Барун-Хемчикского кожуунов с частотами 12% и 2% соответственно; в выборках Тандынского и Эрзинского кожуунов гаплогруппа С2-М217 не найдена.”
plain- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: passes — The paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
- Also stated in: § Abstract · plain
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“В генофондах представителей монгуш Тандынского и Эрзинского кожуунов центральноазиатская гаплогруппа С2-М217 не найдена (рис.2).”
- Also stated in: § Abstract · plain
“в выборках Тандынского и Эрзинского кожуунов гаплогруппа С2-М217 не найдена.”
plain- Asserted: passes — The authors put it forward as true.
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- Load-bearing: passes — The paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
- Also stated in: § Abstract · plain
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Обнаружено, что центральноазиатская гаплогруппа С2-М217 представлена у всех обследуемых родоплеменной группы «монгуш» только одной линией -субгаплогруппой C2a1a2a2a2-SK1066.”
- Also stated in: § Результаты и обсуждение · plain
“В данном исследовании по результатам полного секвенирования гаплогруппы С2-М217 и популяционного скрининга образцов представителей родоплеменной группы монгуш обнаружено, что центральноазиатская гаплогруппа С2-М217 представлена у всех представителей этой группы всего лишь одной линией -субгаплогруппой C2a1a2a2a2-SK1066.”
- Also stated in: § Результаты и обсуждение · boosted
“1. Как показало полное секвенирование центральноазиатской гаплогруппы С2-М217, в генофонде тувинской родоплеменной группы монгуш она представлена только одной линиейсубгаплогруппой C2a1a2a2a2-SK1066.”
boosted- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: passes — The paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
- Also stated in: § Результаты и обсуждение · plain
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Филогенетический анализ по данным полного секвенирования гаплогруппы С2-М217 позволил рассчитать возраст субгаплогруппы C2a1a2a2a2-SK1066 -он составил около 900 лет.”
- Also stated in: § Результаты и обсуждение · plain
“Филогенетический анализ по данным полного секвенирования гаплогруппы С2-М217 позволил рассчитать возраст субгаплогруппы C2a1a2a2a2-SK1066 -он составил около 900 лет, и выявить регион ее происхождения -северо-восточная Монголия.”
- Also stated in: § Результаты и обсуждение · hedged
“Полученная по данным полногеномного секвенирования и филогенетического анализа датировка субгаплогруппы C2a1a2a2a2-SK1066 в генофонде тувинской родоплеменной группы монгуш указала на ее возраст около 900 лет [Дамба c соавт., 2021].”
plain- Asserted: passes — The authors put it forward as true.
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- Load-bearing: passes — The paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
- Also stated in: § Результаты и обсуждение · plain
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In the paper
§ Результаты и обсуждение
“Эта субгаплогруппа выявлена только в выборках Чаа-Хольского и Барун-Хемчикского кожуунов с частотами 12% и 2%, соответственно.”
§ Материалы и методы
“Образцы венозной крови представителей родоплеменной группы монгуш были собраны в Чаа-Хольском (N=64), Барун-Хемчикском (N=15), Эрзинском (N=5) и Тандынском (N=14) кожуунах, суммар-ный объем выборки N=98.”
Rated minor: it would not touch a result — a value no result rests on, a p-value that stays on the same side of the significance level, or a conflict that is clerical, resolved elsewhere in the paper, or outside its own findings.
In the paper
§ References
“История Тувы. Под общей ред. С.И. Вайнштейна, М.Х. Маннай-оола. Кызыл: ОАО «Тываполиграф». 2014. С. 368.”
§ References
“Istoria Tuvi [The history of Tuva]. Editors S.I.Vainshtein, M.K. Mannay-oola. Kizil: OAO "Tivapoli- graph", 2021, p.368.”
Citations
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Cited by
Diversity of gene pools in twelve Tuvan tribal groups (based on Y-chromosome haplogroup data)
Balanovska, E. V., Damba, L. D., Adamov, D., Ponomarev, G., Potanina, A. Y., & Pocheshkhova, E. (2025) · Moscow University Anthropology Bulletin (Vestnik Moskovskogo Universiteta Seria XXIII Antropologia) · doi:10.55959/msu2074-8132-25-3-5 · Cited by 2
Self-citationAdamov, D., Ponomarev, G., Larissa, D., Pocheshkhova, E., & Balanovska, E. V. (2026) · Nature anthropology · doi:10.70322/natanthropol.2026.10010 · Cited by 1
Damba, L. D., Pylev, V. Y., Balanovska, E. V., & Biobank of North Eurasia (3, K. S. (2022) · ORIENTAL STUDIES · doi:10.22162/2619-0990-2022-63-5-1064-1076
Self-citation
Metadata
- Authors
- Research Institute of Medical and Social Problems and Control of the Healthcare Department, K.-O. S., Damba, L. D., Aigygy, E. V., Tuvan State University, L. S., Balanovsky, O. P., Vavilov Institute of General Genetics RAS, G. S., Markina, N. V., Vavilov Institute of General Genetics RAS, G. S., Zhabagin, M. K., National Center for Biotechnology, K. S., Balanovskaya, E. V., Vavilov Institute of General Genetics RAS, G. S., Research Centre for Medical Genetics, M. S., & Biobank of Northern Eurasia, K. S.
- ORCID
- Venue
- Moscow University Anthropology Bulletin (Vestnik Moskovskogo Universiteta. Seria XXIII. Antropologia)
- Publisher
- Moscow University Press
- Published
- 2022-06-23
- Issue
- 1
- Pages
- 77-85
- ISSN
- 2074-8132 (ISSN-L)
- OpenAlex
- W4295074293
- Cited by
- 3
- References
- 6
- Citations by year
- 2026: 1 · 2025: 1 · 2022: 1
- FWCI
- 0.24
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Moscow University Anthropology Bulletin (Vestnik Moskovskogo Universiteta Seria XXIII Antropologia) (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- Tuvans, Genghis Khan, population structure, phylogenetic analysis
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