Genetic Heritage of the Balto-Slavic Speaking Populations: A Synthesis of Autosomal, Mitochondrial and Y-Chromosomal Data

Kushniarevich, Alena; Utevska, Olga; Chuhryaeva, Marina; Agdzhoyan, A. T.; Dibirova, Khadizhat; Uktverytė, Ingrida; Möls, Märt; Mulahasanovic, Lejla; Pshenichnov, Andrey; Frolova, S. A.; Shanko, Andrei; Metspalu, Ene; Reidla, Maere; Tambets, Kristiina; Tamm, Erika; Koshel, S. M.; Zaporozhchenko, Valery; Atramentova, L. A.; Kučinskas, Vaidutis; Давыденко, О. Г.; Goncharova, Olga N.; Evseeva, Irina; Churnosov, Mikhail; Pocheshchova, Elvira; Yunusbayev, Bayazit; Хуснутдинова, Э. К.; Marjanović, Damir; Rudan, Pavao; Rootsi, Siiri; Yankovsky, N. K.; Endicott, Phillip; Kassian, Alexei; Дыбо, А.В.; Tyler‐Smith, Chris; Balanovska, Elena; Metspalu, Mait; Kivisild, Toomas; Villems, Richard; Balanovsky, Oleg

doi:10.1371/journal.pone.0135820

Cited by 106 publications

(75 citation statements)

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“…Bulgarians, Croats, Serbs, Slovenes) (cited in [10, 11]). A recent study of autosomal, mitochondrial and Y-chromosomal data coined the existence of two sub-groups that presumably existed some 1900 years ago, namely the East-West Slavs (from Poland to the Volga river) and the South Slavs (confined to the Balkan Peninsula) [12]. Moreover, the study revealed pronounced genetic similarities between the Czechs and their immediate Germanic neighbors while, further north, the Sorbs and the surrounding Germans were clearly genetically distinct [13].…”

Section: Introductionmentioning

confidence: 99%

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

et al. 2016

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The vast majority of patients with Nijmegen Breakage Syndrome (NBS) are of Slavic origin and carry a deleterious deletion (c.657del5; rs587776650) in the NBN gene on chromosome 8q21. This mutation is essentially confined to Slavic populations and may thus be considered a Slavic founder mutation. Notably, not a single parenthood of a homozygous c.657del5 carrier has been reported to date, while heterozygous carriers do reproduce but have an increased cancer risk. These observations seem to conflict with the considerable carrier frequency of c.657del5 of 0.5% to 1% as observed in different Slavic populations because deleterious mutations would be eliminated quite rapidly by purifying selection. Therefore, we propose that heterozygous c.657del5 carriers have increased reproductive success, i.e., that the mutation confers heterozygote advantage. In fact, in our cohort study of the reproductive history of 24 NBS pedigrees from the Czech Republic, we observed that female carriers gave birth to more children on average than female non-carriers, while no such reproductive differences were observed for males. We also estimate that c.657del5 likely occurred less than 300 generations ago, thus supporting the view that the original mutation predated the historic split and subsequent spread of the ‘Slavic people’. We surmise that the higher fertility of female c.657del5 carriers reflects a lower miscarriage rate in these women, thereby reflecting the role of the NBN gene product, nibrin, in the repair of DNA double strand breaks and their processing in immune gene rearrangements, telomere maintenance, and meiotic recombination, akin to the previously described role of the DNA repair genes BRCA1 and BRCA2.

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Section: Introductionmentioning

confidence: 99%

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

et al. 2016

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“…The data for Belarussians are 9.6% (Kushniarevich et al, 2013;Kushniarevich et al, 2015) and for Ukrainians-5.7% (Battaglia et al, 2009;Kushniarevich et al, 2015).…”

Section: Resultsmentioning

confidence: 99%

“…In the Slavic mtDNA landscape, Slavic speaking populations is different (Kushniarevich et al, 2015).…”

Section: Resultsmentioning

confidence: 99%

“…To the best of our knowledge, the most comprehensive study of Slavic genetic heritage to date (Kushniarevich et al, 2015) reveals that the Slavic genetic diversity was formed through assimilation of preexisting regional genetic components and in situ gene pool shaping; as it also identifies an apparent genetic homogeneity of the majority of West and East Slavs and a substantial genetic difference between them and South Slavs.…”

Section: Orthodox Christian Slavs Use the Cyrillic Alphabet While Romentioning

confidence: 99%

“…The Bulgarian literary language differs from other Slavic languages by the almost complete loss of grammatical case; the creation of definite article of nouns (appearing in the form of a suffix, added to the stem); analytical comparative and superlative (by word-particles); and a complex tense system where the infinitive is completely lost (Aepli, von Waldenfels, & Samardzic, 2014;Kushniarevich et al, 2015;Raykov, 2005).…”

Section: Introductionmentioning

confidence: 99%

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The Uniparental Genetic Landscape of Modern Slavic Speaking Populations

Karachanak-Yankova¹,

Nesheva²,

Тончева³

et al. 2017

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Slavic speaking populations are the most numerous Indo-European ethnolinguistic group in Europe. They show great variety and fall into three groups: West, East and South Slavic populations. In order to contribute to the understanding of the correlation between linguistic and genetic affiliation of Slavic populations, we have analyzed for the first time their matrilineal and patrilineal relationships and we have also illustrated their position in the European uniparental genetic landscape. For the purpose, we have collected previously published data for the frequencies of mitochondrial DNA (mtDNA) and Y-chromosome haplogroups in Slavic and other European populations and compared them by Principal Component Analysis (PCA). In the inter-Slavic population comparisons, West and East Slavs are in a closer position, whereas South Slavic populations are rather grouped on their own. In the European context, South Slavic populations are positioned more close to neighboring Balkan non-Slavic and North Italian populations, than to other Slavic populations. When considering the uniparental diversity of Slavic speaking populations, one should also take into account the prevalence of Y-chromosome haplogroup N among East Slavs (comprising almost half of the paternal gene pool in instances), which is almost absent among the other groups (not exceeding 2% -3%). In conclusion, the data in the present study point that West-East and South Slavic speaking populations, behave as separate groups based on their uniparental genetic structure, which shows that they do not share substantial common genetic ancestry and that there is great genetic variety in the Slavic linguistic unity.

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Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry

Warshauer

Fuentes

Shortt

et al. 2021

American J of Med Genetics Pt A

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Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genodermatosis caused by mutations in the gene coding for type VII collagen (COL7A1). More than 800 different pathogenic mutations in COL7A1 have been described to date; however, the ancestral origins of many of these mutations have not been precisely identified. In this study, 32 RDEB patient samples from the Southwestern United States, Mexico, Chile, and Colombia carrying common mutations in the COL7A1 gene were investigated to determine the origins of these mutations and the extent to which shared ancestry contributes to disease prevalence. The results demonstrate both shared European and American origins of RDEB mutations in distinct populations in the Americas and suggest the influence of Sephardic ancestry in at least some RDEB mutations of European origins. Knowledge of ancestry and relatedness among RDEB patient populations will be crucial for the development of future clinical trials and the advancement of novel therapeutics.

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Genetic Heritage of the Balto-Slavic Speaking Populations: A Synthesis of Autosomal, Mitochondrial and Y-Chromosomal Data

Cited by 106 publications

References 53 publications

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

The Uniparental Genetic Landscape of Modern Slavic Speaking Populations

Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry

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