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Genetic studies on Russians

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European genetic structure (based on SNPs) PC analysis

Genetic studies show that Russians are closest to Poles, Belarusians, Ukrainians and to other Slavs as well as to Estonians, Latvians, Lithuanians, and Hungarians.[1]

Y-DNA

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Eight Y chromosome haplogroup subclades, including R1a, N3, I1b, R1b, I2a, J2, N2, and E3b all together, account for >95% of the total Russian Y chromosomal pool. Of the 1228 samples, 11/1228 (0.9%) were classified up to the root level of haplogroups F and K. Only 9/1228 samples (0.7%) fell into haplogroups C, Q, and R2 which are specific to East and South Asian populations.[1]

The top four Y-DNA haplogroups among the sample of 1228 Russians are:[1]

Eight Y chromosome haplogroup subclades, including R1a, N3, I1b, R1b, I1a, J2, N2, and E3b all together, account for >95% of the total Russian Y chromosomal pool. Of the 1228 samples, 11/1228 (0.9%) were classified up to the root level of haplogroups F and K. Only 9/1228 samples (0.7%) fell into haplogroups C, Q, and R2 which are specific to East and South Asian populations.[1]

mtDNA

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The mitochondrial gene pool of Russians are represented by mtDNA types belonging to typical West Eurasian groups. East Eurasian admixture was shown to be minimal and existed in low frequencies in the form of Haplogroup M.[2][3] The same studies indicate Eurasian haplogroups present at a frequency of 97.8% and 98.5% among a sample of 325 and 201 Russians respectively.[2][3]

Autosomal DNA

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Using the clustering algorithm implemented in ADMIXTURE, ancestral genetic components in Balto-Slavic populations were modeled.[4]

Autosomally, Russians are most similar to populations in Eastern Europe followed by other Eurasian groups.[5] Genetic research suggests higher amounts of Siberian admixture among Northern Russians than Central and Southern Russians. Eastern Siberian-like ancestry was found at an average frequency of ~12% among Northern Russians. This Eastern Siberian-like ancestry is maximized among modern Nganasan people and a Bronze Age specimen from Southern Siberia (Krasnoyarsk_Krai_BA), suggesting the assimilation and slavification of Uralic ethnic groups during the expansion of early Russians. Other Russians carried it at a lower frequency of around 4% similarly to other Slavic populations.[6][7][8] A study by Wang et al. argued that the levels of "Eastern Siberian" ancestry among Russians, but also Finns, may be linked to the diffusion of paternal haplogroup N-M231.[9]

A large full-genome study by Triska et al. 2017 on Russians and other ethnic groups, stretching from the Baltic region to Lake Baikal, found that Russians are closely related to other Slavic Peoples, followed by other European populations. According to the Russian researchers, "Ukrainians, Belarusians and Russians have almost identical proportions of Caucasus and Northern European components and have virtually no Asian influence", contradicting the previous studies mentioned. However, many ethnic minority groups from Russia were found to be characterized by the presence of significant higher amounts of Asian components, yet European ancestry also makes up the majority of their respective gene pool: "European components account for 50% - 90% of admixture vectors in both Turkic and Uralic speakers of the Volga-Ural region". Other ethnic minorities, such as from the Caucasus region, harbored predominantly "Caucasus and Iranian" components.[10]

A genome-wide sequence analysis on the population of Russia by Zhernakova et al. 2020, found that Russia as a whole, displays significant heterogeneity. Ethnic Russians primarily descended from the early Slavic peoples, which diverged from other Indo-Europeans, and expanded from Eastern Europe eastwards. Subsequently Russians expanded further eastwards, later coming into contact with various other groups, such as Uralic, Turkic, Iranian, Mongolic and Tungusic peoples as well as Paleo-Siberian groups of Siberia. Geneflow between Asian minority groups and Russians contributed to the overall pattern of genome diversity across the different ethno-linguistic groups of Russia.[11][12]

See also

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References

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  1. ^ a b c d Balanovsky, O; Rootsi, S; Pshenichnov, A; et al. (January 2008). "Two sources of the Russian patrilineal heritage in their Eurasian context". American Journal of Human Genetics. 82 (1): 236–50. doi:10.1016/j.ajhg.2007.09.019. PMC 2253976. PMID 18179905.
  2. ^ a b Malyarchuk, BA; Grzybowski, T; Derenko, MV; Czarny, J; Woźniak, M; Miścicka-Sliwka, D (April 2002). "Mitochondrial DNA variability in Poles and Russians" (PDF). Annals of Human Genetics. 66 (4): 261–283. doi:10.1046/j.1469-1809.2002.00116.x. PMID 12418968. S2CID 221424344. Archived from the original (PDF) on 2012-09-17. Retrieved 2016-05-14.
  3. ^ a b Malyarchuk, B; Derenko, M; Grzybowski, T; et al. (December 2004). "Differentiation of Mitochondrial DNA and Y Chromosomes in Russian Populations" (PDF). Human Biology. 76 (6): 877–900. doi:10.1353/hub.2005.0021. PMID 15974299. S2CID 17385503. Archived from the original (PDF) on 2012-03-25. Retrieved 2016-05-14.
  4. ^ Kushniarevich, Alena; Utevska, Olga; Chuhryaeva, Marina; Agdzhoyan, Anastasia; Dibirova, Khadizhat; Uktveryte, Ingrida; Möls, Märt; Mulahasanovic, Lejla; Pshenichnov, Andrey; Frolova, Svetlana; Shanko, Andrey; Metspalu, Ene; Reidla, Maere; Tambets, Kristiina; Tamm, Erika (2015-09-02). "Genetic Heritage of the Balto-Slavic Speaking Populations: A Synthesis of Autosomal, Mitochondrial and Y-Chromosomal Data". PLOS ONE. 10 (9): e0135820. doi:10.1371/journal.pone.0135820. ISSN 1932-6203. PMC 4558026. PMID 26332464.
  5. ^ Khrunin, Andrey V. (March 7, 2013). "A Genome-Wide Analysis of Populations from European Russia Reveals a New Pole of Genetic Diversity in Northern Europe". PLOS ONE. 8 (3): e58552. Bibcode:2013PLoSO...858552K. doi:10.1371/journal.pone.0058552. PMC 3591355. PMID 23505534.
  6. ^ Qin, Pengfei; Zhou, Ying; Lou, Haiyi; Lu, Dongsheng; Yang, Xiong; Wang, Yuchen; Jin, Li; Chung, Yeun-Jun; Xu, Shuhua (2015-04-02). "Quantitating and Dating Recent Gene Flow between European and East Asian Populations". Scientific Reports. 5 (1): 9500. doi:10.1038/srep09500. ISSN 2045-2322. PMC 4382708. PMID 25833680.
  7. ^ Khrunin, Andrey V.; Khokhrin, Denis V.; Filippova, Irina N.; Esko, Tõnu; Nelis, Mari; Bebyakova, Natalia A.; Bolotova, Natalia L.; Klovins, Janis; Nikitina-Zake, Liene; Rehnström, Karola; Ripatti, Samuli; Schreiber, Stefan; Franke, Andre; Macek, Milan; Krulišová, Veronika (2013-03-07). "A Genome-Wide Analysis of Populations from European Russia Reveals a New Pole of Genetic Diversity in Northern Europe". PLOS ONE. 8 (3): e58552. doi:10.1371/journal.pone.0058552. ISSN 1932-6203. PMC 3591355. PMID 23505534.
  8. ^ Peltola, Sanni; Majander, Kerttu; Makarov, Nikolaj; Dobrovolskaya, Maria; Nordqvist, Kerkko; Salmela, Elina; Onkamo, Päivi (2023-01-09). "Genetic admixture and language shift in the medieval Volga-Oka interfluve". Current Biology. 33 (1): 174–182.e10. doi:10.1016/j.cub.2022.11.036. ISSN 0960-9822.
  9. ^ Wong, Emily H. M.; Khrunin, Andrey; Nichols, Larissa; Pushkarev, Dmitry; Khokhrin, Denis; Verbenko, Dmitry; Evgrafov, Oleg; Knowles, James; Novembre, John; Limborska, Svetlana; Valouev, Anton (2017-01-01). "Reconstructing genetic history of Siberian and Northeastern European populations". Genome Research. 27 (1): 1–14. doi:10.1101/gr.202945.115. ISSN 1088-9051. PMC 5204334. PMID 27965293. Therefore, Siberian admixtures into Northeastern Europe likely began prior to 6.6 kya, coinciding with the expansion of Y-Chromosome haplogroup N1c1 among Siberians and Northeastern Europeans (7.1–4.9 kya). Since haplogroup N likely originated in Asia (Shi et al. 2013) and currently achieves its highest frequency among Siberian populations, its presence among Eastern Europeans likely reflects ancient gene flows from Siberia into Northeastern Europe.
  10. ^ Triska, Petr; Chekanov, Nikolay; Stepanov, Vadim; Khusnutdinova, Elza K.; Kumar, Ganesh Prasad Arun; Akhmetova, Vita; Babalyan, Konstantin; Boulygina, Eugenia; Kharkov, Vladimir; Gubina, Marina; Khidiyatova, Irina; Khitrinskaya, Irina; Khrameeva, Ekaterina E.; Khusainova, Rita; Konovalova, Natalia (2017-12-28). "Between Lake Baikal and the Baltic Sea: genomic history of the gateway to Europe". BMC Genetics. 18 (1): 110. doi:10.1186/s12863-017-0578-3. ISSN 1471-2156. PMC 5751809. PMID 29297395.
  11. ^ Zhernakova, Daria V.; Brukhin, Vladimir; Malov, Sergey; Oleksyk, Taras K.; Koepfli, Klaus Peter; Zhuk, Anna; Dobrynin, Pavel; Kliver, Sergei; Cherkasov, Nikolay; Tamazian, Gaik; Rotkevich, Mikhail; Krasheninnikova, Ksenia; Evsyukov, Igor; Sidorov, Sviatoslav; Gorbunova, Anna (2020-01-01). "Genome-wide sequence analyses of ethnic populations across Russia". Genomics. 112 (1): 442–458. doi:10.1016/j.ygeno.2019.03.007. ISSN 0888-7543.
  12. ^ Qin, Pengfei; Zhou, Ying; Lou, Haiyi; Lu, Dongsheng; Yang, Xiong; Wang, Yuchen; Jin, Li; Chung, Yeun-Jun; Xu, Shuhua (2015-04-02). "Quantitating and Dating Recent Gene Flow between European and East Asian Populations". Scientific Reports. 5 (1): 9500. doi:10.1038/srep09500. ISSN 2045-2322. PMC 4382708. PMID 25833680. Northeast Asians such as Oroqen, Mongolian, Hezhen and Daur (nomads who historically lived alongside Russians and Caucasians) inherited significantly more alleles from EUR: Mongolian 10.9 ± 0.1%, Oroqen 9.6 ± 0.2%, Daur 8.0 ± 0.2% and Hezhen 6.8 ± 0.2%.
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