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Mitochondrial DNA variability in Poles and Russians
Abstract
Mitochondrial DNA (mtDNA) sequence variation was examined in Poles (from the Pomerania‐Kujawy region; n = 436) and Russians (from three different regions of the European part of Russia; n = 201), for which the two hypervariable segments (HVS I and HVS II) and haplogroup‐specific coding region sites were analyzed. The use of mtDNA coding region RFLP analysis made it possible to distinguish parallel mutations that occurred at particular sites in the HVS I and II regions during mtDNA evolution. In total, parallel mutations were identified at 73 nucleotide sites in HVS I (17.8%) and 31 sites in HVS II (7.73%). The classification of mitochondrial haplotypes revealed the presence of all major European haplogroups, which were characterized by similar patterns of distribution in Poles and Russians. An analysis of the distribution of the control region haplotypes did not reveal any specific combinations of unique mtDNA haplotypes and their subclusters that clearly distinguish both Poles and Russians from the neighbouring European populations. The only exception is a novel subcluster U4a within subhaplogroup U4, defined by a diagnostic mutation at nucleotide position 310 in HVS II. This subcluster was found in common predominantly between Poles and Russians (at a frequency of 2.3% and 2.0%, respectively) and may therefore have a central‐eastern European origin.
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“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 [30]
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Wilde, S., Timpson, A., Kirsanow, K., Kaiser, E., Kayser, M., Unterländer, M., Hollfelder, N., Potekhina, I. D., Schier, W., Thomas, M. G., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1316513111 · Cited by 257
Phylogeographic Analysis of Mitochondrial DNA in Northern Asian Populations
Derenko, M. V., Malyarchuk, B. А., Grzybowski, T., Denisova, G. A., Dambueva, I. K., Perkova, M. A., Михайловна, Д. Ч., Лузина, Ф. А., Lee, H. K., Vaněček, T., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/522933 · Cited by 219
Self-citationDisuniting Uniformity: A Pied Cladistic Canvas of mtDNA Haplogroup H in Eurasia
Loogväli, E., Roostalu, U., Malyarchuk, B. А., Derenko, M. V., Kivisild, T., Metspalu, E., Tambets, K., Reidla, M., Tolk, H.-V., Parik, J., et al. (2004) · Molecular Biology and Evolution · doi:10.1093/molbev/msh209 · Cited by 200
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Metadata
- Authors
- MALYARCHUK, B. A., GRZYBOWSKI, T., DERENKO, M. V., CZARNY, J., WOŹNIAK, M., & MIŚCICKA‐ŚLIWKA, D.
- Affiliations
- Russian Academy of Sciences (RU)
- Venue
- Annals of Human Genetics
- Publisher
- Wiley
- Published
- 2002-07
- Volume
- 66
- Issue
- 4
- Pages
- 261-283
- ISSN
- 0003-4800 (ISSN-L)
- 1469-1809
- OpenAlex
- W4238404866
- Cited by
- 141
- References
- 0
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 2 · 2022: 5 · 2020: 2 · 2019: 3 · 2018: 4 · 2017: 6 · 2016: 3 · 2015: 5 · 2014: 10 · 2013: 5 · 2012: 7
- FWCI
- 5.83
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annals of Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed
- 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, parallel mutations, mitochondrial haplotypes, control region, poles, Russian, genetic differentiation, European Russia
- MeSH terms
- DNA, Mitochondrial, Genetics, Population, Haplotypes, Humans, Phylogeny, Polymorphism, Restriction Fragment Length, Russia, Genetic Variation, Sequence Analysis, DNA
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