Mitochondrial DNA variability in Russians and Ukrainians: Implication to the origin of the Eastern Slavs
Abstract
In order to investigate the origin of the Eastern Slavs, mitochondrial DNA (mtDNA) sequence variation was examined in Russians and Ukrainians by hypervariable segment I (HVS I) sequencing and restriction analysis of the haplogroup‐specific sites. No significant differences were found for Russians and Ukrainians when compared to other Europeans – in fact, they fall within the range of gene diversity seen throughout Europe and exhibit the unimodal pattern of pairwise sequence differences. Moreover, HVS I sequences in the Russians and Ukrainians are similar or identical to those found in eastern and western European populations. Despite the small genetic distances between Europeans, phylogenetic analysis reveals a considerable heterogeneity of Eastern Slavonic populations – they do not cluster together onto a phylogenetic tree. Analysis of distribution of rare HVS I types shared between populations of Eastern Slavs and other West Eurasians has shown that Russians share rare haplotypes mainly with Germans and Finno–Ugric populations. Of these, subhaplogroup H1 sequence types, which are defined by different combinations of nucleotides 16192T, 16294T, 16304C, 16311C and 16320T, are found predominantly in common between Russians and German‐speaking populations. The data obtained allow us to conclude that the Slavonic migrations in early Middle Ages from their putative homeland in central Europe to the east of Europe were accompanied mostly by the same mtDNA types characteristic for the pre‐Slavonic populations of eastern Europe.
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Low genetic differentiation was found between the 60 ancient mtDNA HVR1 sequences and 246 modern homologous sequences from the same geographic region (FST = 0.00551; P = 0.0663).
“we compared the 60 mtDNA HVR1 sequences obtained from our ancient sample to 246 homologous modern sequences (29–31) from the same geographic region and found low genetic differentiation (FST = 0.00551; P = 0.0663) (32).”
From Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the last 5,000 y (2014) · cites this paper as [29]
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Quintana-Murci, L., Chaix, R., Wells, R., Behar, D., Sayar, H., Scozzari, R., Rengo, C., Al-Zahery, N., Semino, O., Santachiara-Benerecetti, A., et al. (2004) · American Journal of Human Genetics · doi:10.1086/383236 · Cited by 425 · see citing works
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Self-citationDerenko, M. V., Malyarchuk, B. А., Denisova, G. A., Perkova, M. A., Rogalla, U., Grzybowski, T., Хуснутдинова, Э. К., Dambueva, I. K., & ZAKHAROV, I. A. (2012) · PLoS ONE · doi:10.1371/journal.pone.0032179 · Cited by 74 · see citing works
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“In the last few years, data on maternal lineages from Eastern European and Slavonic-speaking populations have started to emerge (e.g. Belyaeva et al. 2003; Bermisheva et al. 2002; Malyarchuk & Derenko 2001; Malyarchuk et al. 2003, 2002; Tolk et al. 2000).”
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“At the same time, U3 is extremely rare in the populations inhabiting the Volga–Ural region [19] and Central Asia [12], as well as in Russians [20, 21] and peoples of the Caucasus [10].”
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“Ethnic Russians, constituting almost 81% of the country’s population (according to the 2010 All-Russia population census from the Federal State Statistic Service of the Russian Federation), are not genetically separate from other European populations, mainly on the basis of mitochondrial DNA data (Orekhov et al., 1999…”
Background[Polymorphism of human mitochondrial DNA].
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“…derivation of Slavic peoples has become of considerable interest to many researchers, who have conducted molecular genetic studies of these groups (Malyarchuk and Derenko 2001; Malyarchuk et al. 2001, 2002, 2003, 2004; Kravchenko et al. 2002; Belyaeva et al. 2003; Kasperavičiūte et al. 2004;…”
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Haplotype frequencies at the DRD2 locus in populations of the East European Plain
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“Studies on mtDNA [30-34] and Y-chromosome haplogroups [33,35,36], autosomal VNTR diversity [37,38], and autosomal haplotypes [39] consistently show a degree of Uralic admixture in populations of northern Russians.”
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“Analysis of mtDNA HVSI median networks was carried out using the data on population samples from Western Europe [8, 26], Caucasus (Armenians, Osetians, and Georgians [39], and Adygei [22]), Russia, and Ukraine [24].”
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Melton, P. E., Mosher, M. J., Rubicz, R. C., et al. (2010) · Human Biology · doi:10.3378/027.082.0302 · Cited by 9 · see citing works
Malyarchuk, B. А. (2001) · Russian Journal of Genetics · doi:10.1023/a:1013260332385 · Cited by 9 · see citing works
“Data on the variation in nucleotides sequence of HVS1 of the major noncoding mtDNA region in Eurasian populations were obtained from published works (see lists of references in [8, 10, 14]) and computer databases (GeneBank, MITOMAP, mtDNA Concordance).”
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“Eastern Slavs were formed in the forest and forest-steppe zones of Eastern Europe.”
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“Given research findings regarding the high level of homogeneity of the human population in Central and Eastern Europe as a whole (from this point of view) (Malyarchuk & Derenko, 2001; Malyarchuk et al., 2002, Kasperaviciūte, Kucinskas, & Stoneking, 2004), the fact …”
On the origin of Mongoloid component in the mitochondrial gene pool of Slavs
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“According to the data on the variability of the HVS1 sequence of mtDNA, it was previously shown that interethnic interactions (mixing and assimilation) had a major role in the formation of various groups of Slavs (Malyarchuk, 2001).”
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“, 2009) in the region of central Asia/eastern Siberia (Malyarchuk and Derenko, 2001).”
BackgroundInfluentialPolymorphism of Human Mitochondrial DNA
Bermisheva, M., Viktorova, T. V., & Хуснутдинова, Э. К. (2003) · Russian Journal of Genetics · doi:10.1023/a:1025319702808 · Cited by 4 · see citing works
“This population harbors all nine European haplogroups with the frequencies typical of Central and Western Europe [70].”
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“The majority of haplotypes occur in haplogroup H, which is the most common haplogroup among modern-day Europeans and peoples of the West Asia, accounting for around 40% in Europeans (Van Oven and Kayser, 2009), including approximately 44% of modern Ukrainians (Malyarchuk and Derenko, 2001).”
BackgroundMinisatellite DNA Markers in Population Studies
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Mitochondrial DNA Sequence Analysis in the Lithuanian Population
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Mitochondrial DNA Phylogeny of M Haplogroup in Indian Population
India, A. S. O. (2021) · Springer eBooks · doi:10.1007/978-981-16-0163-7_2 · Cited by 1 · see citing works
Phylogenetic analysis of mysterious burials revealed in the former penal labor camp Treblinka I
Lisman, D., Drath, J., Zielińska, G., et al. (2024) · Archives of Forensic Medicine and Criminology · doi:10.4467/16891716amsik.23.024.19496 · Cited by 1 · see citing works
Malyarchuk, B. А., & Derenko, M. V. (2001) · Russian Journal of Genetics · doi:10.1023/a:1012573512606 · Cited by 1 · see citing works
“These mtDNA lineages, however, have not been found in the Russian gene pool [17, 18].”
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“The majority of haplotypes fall into haplogroup H, which is the most common haplogroup among modern-day Europeans and peoples of the West Asia, accounting for around 40% in Europeans [29] and is found in approximately 44% of modern Ukrainians [30].”
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- Authors
- MALYARCHUK, B. A., & DERENKO, M. V.
- Affiliations
- Institute of Biological Problems of the North (RU)
- ORCID
- DERENKO, M. V.
- Venue
- Annals of Human Genetics
- Publisher
- Wiley
- Published
- 2001-01
- Volume
- 65
- Issue
- 1
- Pages
- 63-78
- ISSN
- 0003-4800 (ISSN-L)
- 1469-1809
- OpenAlex
- W2050362342
- Cited by
- 81
- References
- 0
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 2 · 2023: 2 · 2022: 2 · 2021: 2 · 2020: 3 · 2017: 1 · 2015: 2 · 2014: 3 · 2013: 2 · 2012: 4
- FWCI
- 4.91
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annals of Human Genetics (publishedVersion)
- PubMed (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
- mitochondrial DNA, Eastern Slavs, Slavic origins, Russian, Ukrainians, hypervariable region 1, mtDNA haplogroups, Slavic migration, phylogenetic analysis
- MeSH terms
- DNA, Mitochondrial, Haplotypes, Humans, Phylogeny, Polymorphism, Restriction Fragment Length, Russia, Ukraine, Genetic Variation, Restriction Mapping, Sequence Analysis, DNA
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