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The Upper Volga region was an area of contacts of Finno-Ugric, Slavic, and Scandinavian speaking populations in the 8th–10th centuries AD. However, their role in the formation of the contemporary gene pool of the Russian population of the region is largely unknown. To answer this question, we studied four populations of Yaroslavl oblast (N = 132) by a wide panel of STR and SNP markers of the Y-chromosome. Two of the studied populations appear to be genetically similar: the indigenous Russian population of Yaroslavl oblast and population of Katskari are characterized by the same major haplogroup, R-M198 (xM458). Haplogroup R-M458 composes more than half of Sitskari’s gene pool. The major haplogroup in the gene pool of the population of the ancient town of Mologa is N-M178. Subtyping N-M178 by newest “genomeera” Y-SNP markers showed different pathways of entering this haplogroup into the gene pools of Yaroslavl Volga region populations. The majority of Russian populations have subvariant N3a3-CTS10760; the regular sample of Yaroslavl oblast is equally represented by subvariants N3a3-CTS10760 and N3a4-Z1936, while subvariant N3a4-Z1936 predominates in the gene pool of population of Mologa. This N3a4-Z1936 haplogroup is common among the population of the north of Eastern Europe and the Volga-Ural region. The obtained results indicate preservation of the Finno-Ugric component in the gene pool of population of Mologa and a contribution of Slavic colonization in the formation of the gene pool of the Yaroslavl Volga region populations and make it possible to hypothesize the genetic contribution of the “downstream” (Rostov- Suzdal) rather than “upstream” (Novgorod) Slavic migration wave.

The indigenous populations of inner Eurasia—a huge geographic region covering the central Eurasian steppe and the northern Eurasian taiga and tundra—harbour tremendous diversity in their genes, cultures and languages. In this study, we report novel genome-wide data for 763 individuals from Armenia, Georgia, Kazakhstan, Moldova, Mongolia, Russia, Tajikistan, Ukraine and Uzbekistan. We furthermore report additional damage-reduced genome-wide data of two previously published individuals from the Eneolithic Botai culture in Kazakhstan (~5,400 bp). We find that present-day inner Eurasian populations are structured into three distinct admixture clines stretching between various western and eastern Eurasian ancestries, mirroring geography. The Botai and more recent ancient genomes from Siberia show a decrease in contributions from so-called ‘ancient North Eurasian’ ancestry over time, which is detectable only in the northern-most ‘forest-tundra’ cline. The intermediate ‘steppe-forest’ cline descends from the Late Bronze Age steppe ancestries, while the ‘southern steppe’ cline further to the south shows a strong West/South Asian influence. Ancient genomes suggest a northward spread of the southern steppe cline in Central Asia during the first millennium bc. Finally, the genetic structure of Caucasus populations highlights a role of the Caucasus Mountains as a barrier to gene flow and suggests a post-Neolithic gene flow into North Caucasus populations from the steppe. Genome-wide data for 763 individuals from inner Eurasia reveal 3 admixture clines in present-day populations that mirror geography, illuminating the historic spread and mixture of peoples across the Eurasian steppe, taiga and tundra.

The Early Iron Age nomadic Scythians have been described as a confederation of tribes of different origins, based on ancient DNA evidence [1-3]. It is still unclear how much of the Scythian dominance in the Eurasian Steppe was due to movements of people and how much reflected cultural diffusion and elite dominance. We present new whole-genome sequences of 31 ancient Western and Eastern Steppe individuals, including Scythians as well as samples pre- and postdating them, allowing us to set the Scythians in a temporal context (in the Western, i.e., Ponto-Caspian Steppe). We detect an increase of eastern (Altaian) affinity along with a decrease in eastern hunter-gatherer (EHG) ancestry in the Early Iron Age Ponto-Caspian gene pool at the start of the Scythian dominance. On the other hand, samples of the Chernyakhiv culture postdating the Scythians in Ukraine have a significantly higher proportion of Near Eastern ancestry than other samples of this study. Our results agree with the Gothic source of the Chernyakhiv culture and support the hypothesis that the Scythian dominance did involve a demic component.

Population biobanks are collections of thoroughly annotated biological material stored for many years. Population biobanks are a valuable resource for both basic science and applied research and are essential for extensive analysis of gene pools. Population biobanks make it possible to carry out fundamental studies of the genetic structure of populations, explore their genetic processes, and reconstruct their genetic history. The importance of biobanks for applied research is no less significant: they are essential for development of personalized medicine and genetic ecological monitoring of populations and are in high demand in forensic science. Establishment of an efficient and representative biobank requires strict observance of the principles of sample selection in populations, protocols of DNA extraction, quality control, and storage and documentation of biological materials. We reviewed regional biobanks and presented the organizational model of population biobank establishment based on the Biobank of Indigenous Population of Northern Eurasia created under supervision of E.V. Balanovska and O.P. Balanovsky. The results obtained using the biobanks in transdisciplinary research and prospective applications for the purposes of genogeography, genomic medicine, and forensic science are presented.

Populations of the eastern medicinal leech, Hirudo orientalis from 13 localities at six freshwater eco-regions from Kazakhstan, Uzbekistan, Azerbaijan and Iran were analyzed for coloration pattern variability. In addition, coloration patterns of 1017 reared specimens including hatched, juvenile and adult leeches were considered. Elements of coloration pattern including dorsal paramarginal, paramedian and lateral stripes and ventral pattern variations were chosen as the basis of comparative population analysis. Data analyses revealed a strong association of the dorsal paramarginal stripe with other dorsal elements. The dominant morphotype remained stable from hatchlings to older individuals, and coloration traits seem to be inheritable. A sufficient monomorphy of dorsal elements of the coloration pattern was recorded in most localities suggesting potential signs of genetic drift. On a larger geographical scale, populations of the western Caspian Sea (Azerbaijan) differ from all other localities (Central Asia and Iran) in their pattern variation. The high morphotype diversity in the populations of southern distribution ranges, especially southern Caspian Sea, could suggest that the area is a probable historical refugium for the species.

STR haplotypes of the Y chromosome are widely used as effective genetic markers in studies of human populations and in forensic DNA analysis. The task often arises to compare the spectrum of haplotypes in individuals or entire populations. Performing this task manually is too laborious and thus unrealistic. We propose an algorithm for counting similarity between STR haplotypes. This algorithm is suitable for massive analyses of samples. It is implemented in the computer program Haplomatch, which makes it possible to find haplotypes that differ from the target haplotype by 0, 1, 2, 3, or more mutational steps. The program may operate in two modes: comparison of individuals and comparison of populations. Flexibility of the program (the possibility of using any external database), its usability (MS Excel spreadsheets are used), and the capability of being applied to other chromosomes and other species could make this software a new useful tool in population genetics and forensic and genealogical studies. The Haplomatch software is freely available on our website www.genofond.ru. The program is applied to studying the gene pool of Cossacks. Experimental analysis of Y-chromosomal diversity in a representative set (N = 131) of Upper Don Cossacks is performed. Analysis of the STR haplotypes detects genetic proximity of Cossacks to East Slavic populations (in particular, to Southern and Central Russians, as well as to Ukrainians), which confirms the hypothesis of the origin of the Cossacks mainly due to immigration from Russia and Ukraine. Also, a small genetic influence of Turkicspeaking Nogais is found, probably caused by their occurrence in the Don Voisko as part of the Tatar layer. No similarities between haplotype spectra of Cossacks and Caucasus populations are found. This case study demonstrates the effectiveness of the Haplomatch software in analyzing large sets of STR haplotypes.

The indigenous populations of inner Eurasia, a huge geographic region covering the central Eurasian steppe and the northern Eurasian taiga and tundra, harbor tremendous diversity in their genes, cultures and languages. In this study, we report novel genome-wide data for 763 individuals from Armenia, Georgia, Kazakhstan, Moldova, Mongolia, Russia, Tajikistan, Ukraine, and Uzbekistan. We furthermore report genome-wide data of two Eneolithic individuals (∽5,400 years before present) associated with the Botai culture in northern Kazakhstan. We find that inner Eurasian populations are structured into three distinct admixture clines stretching between various western and eastern Eurasian ancestries. This genetic separation is well mirrored by geography. The ancient Botai genomes suggest yet another layer of admixture in inner Eurasia that involves Mesolithic hunter-gatherers in Europe, the Upper Paleolithic southern Siberians and East Asians. Admixture modeling of ancient and modern populations suggests an overwriting of this ancient structure in the Altai-Sayan region by migrations of western steppe herders, but partial retaining of this ancient North Eurasian-related cline further to the North. Finally, the genetic structure of Caucasus populations highlights a role of the Caucasus Mountains as a barrier to gene flow and suggests a post-Neolithic gene flow into North Caucasus populations from the steppe.

The territory of present-day Ukraine is subdivided into some regions with specific demographic and politic history. Nevertheless, the corresponding subdivision in genetic structure is not revealed in previous investigations: populations of Ukrainians under study were genetically homogeneous on SNP markers of Y chromosome. In the current investigation we studied the Y-chromosomal genetic structure of Transcarpathia and Bukovina populations. Several factors exist to expect the genetic specificity of these populations. Both ones are placed in the Carpathian foothills, at the south-western border of the Ukrainian area. During the last millennium these territories were the parts of different states and were open for ethnically diverse migrations. It was revealed that the major Y chromosomal haplogroups in Transcarpathia population were R1a1a1*(М198), I2a (Р37.2), R1a1a1g (М458), E1b1b1a1 (M78). The major haplogroups in Bukovina population were I2a (Р37.2), R1a1a1*(М198), R1a1a1g (М458), R1b1b2 (М269), E1b1b1a1 (M78), I1 (М253). The Bukovina population differs from the typical Ukrainian population by higher frequency of I2a (Р37.2) and lower frequency of R1a1a1*(М198). Moreover, this is the only population among ones studied in Ukraine where the most frequent haplogroup is I2a (Р37.2) but not R1a1a1*(М198). Such a deviation can be caused by possible mixing with neighbouring southern groups, and Carpathian mountains were not a border for exchange in this case. Interestingly, the haplogroup N1c (M178) is not revealed in Transcarpathia at all, obviously due to the mountain barrier. It was revealed by principal component analysis that Ukrainians from Transcarpathia and Bukovina despite some specific peculiarities are more similar to other Ukrainian populations than to the surrounding ethnic groups such as Poles, Slovaks, Hungarians, Romanians, Moldavians and Gagauzes. Ukrainians of Transcarpathia and Bukovina form the entire genetic continuum with the whole Ukraine on maps of gene distances, confirming the homogeneity of Ukrainian parental gene pool and it’s differentiation from other groups. After performing the analysis of Y-haplogroup spatial distribution, it is supposed that the northern ridges ofCarpathian mountainsare the East-European barrier decreasing the gene flow. It decreases the spreading of haplogroups N1c (М178) and R1a (М198) southward and movement of E1b (М78), R1b (М269), J (М304) and G (М201) northward.

The results of the study of Y-chromosomal polymorphisms of Russian and Ukrainian population are presented for Slobozhanshina--contemporary border region, former "Wild Field" boundary, which was inhabited in XVII-XVIII centuries by both the Russians from the north and Ukrainians from the west. In general, Ukrainian and Russian populations of Slobozhanshchina genetically are very close, their set and frequency range of Y-chromosome haplogroups are typical for the Eastern Europe. But a detailed analysis of highly informative Y-chromosome markers showed that after 3,5 centuries of coexistence on the same historical territory, the both nations retain the ethnic specificity of their gene pools: Ukrainian populations are similar to the rest of Ukraine, and Russian populations are similar to the south of the European part of Russia. The genetic differences may be due to the spatial characteristics of marriage migration and the predominant ethnic environment.

The haplotype and allele frequencies for 17 STR loci of Y-chromosome were obtained for 1151 indigenous Ukrainians from 13 regional populations representing the major territorial subdivisions of Ukraine. There were no significant inter-population differences. The genetic subdivisions within Ukraine was revealed between Polesie, western and eastern forest-steppe populations. The highest microsatellite variability was observed along the edges of Ukrainian area – in the Carpathian region, Bukovina, Sloboda Ukraine; the lowest – in Polesie. The average haplotype diversity values are higher in the steppe and forest-steppe zones, than in Polesie and the Carpathians. Forensic parameters were calculated: total haplotype diversity HD = 0,998855, match probability MP = 0.00114508, the discrimination capacity DC = 0,89400521.

We conducted the first genetic analysis of a wide a range of rural Russian populations in European Russia with a panel of common DNA markers commonly used in criminalistics genetic identification. We examined a total of 647 samples from indigenous ethnic Russian populations in Arkhangelsk, Belgorod, Voronezh, Kursk, Rostov, Ryazan, and Orel regions. We employed a multiplex genotyping kit, COrDIS Plus, to genotype Short Tandem Repeat (STR) loci, which included the genetic marker panel officially recommended for DNA identification in the Russian Federation, the United States, and the European Union. In the course of our study, we created a database of allelic frequencies, examined the distribution of alleles and genotypes in seven rural Russian populations, and defined the genetic relationships between these populations. We found that, although multidimensional analysis indicated a difference between the Northern gene pool and the rest of the Russian European populations, a pairwise comparison using 19 STR markers among all populations did not reveal significant differences. This is in concordance with previous studies, which examined up to 12 STR markers of urban Russian populations. Therefore, the database of allelic frequencies created in this study can be applied for forensic examinations and DNA identification among the ethnic Russian population over European Russia. We also noted a decrease in the levels of heterozygosity in the northern Russian population compared to ethnic populations in southern and central Russia, which is consistent with trends identified previously using classical gene markers and analysis of mitochondrial DNA.

The area of what is now the Ukraine has been the arena of large-scale demographic processes that may have left their traces in the contemporary gene pool of Ukrainians. In this study, we present new mitochondrial DNA data for 607 Ukrainians (hypervariable segment I sequences and coding region polymorphisms). To study the maternal affinities of Ukrainians at the level of separate mitochondrial haplotypes, we apply an original technique, the haplotype co-occurrence analysis. About 20% of the Ukrainian maternal gene pool is represented by lineages highly specific to Ukrainians, but is scarcely found in other populations. About 9% of Ukrainian mtDNA lineages are typical for peoples of the Volga region. We also identified minor gene pool strata (1.6-3.3%), each of which is common in Lithuanians, Estonians, Saami, Nenets, Cornish, and the populations of the North Caucasus.

High-coverage whole-genome sequence studies have so far focused on a limited number1 of geographically restricted populations2, 3, 4, 5, or been targeted at specific diseases, such as cancer6. Nevertheless, the availability of high- resolution genomic data has led to the development of new methodologies for inferring population history7, 8, 9 and refuelled the debate on the mutation rate in humans10. Here we present the Estonian Biocentre Human Genome Diversity Panel (EGDP), a dataset of 483 high-coverage human genomes from 148 populations worldwide, including 379 new genomes from 125 populations, which we group into diversity and selection sets. We analyse this dataset to refine estimates of continent-wide patterns of heterozygosity, long- and short-distance gene flow, archaic admixture, and changes in effective population size through time as well as for signals of positive or balancing selection. We find a genetic signature in present-day Papuans that suggests that at least 2% of their genome originates from an early and largely extinct expansion of anatomically modern humans (AMHs) out of Africa. Together with evidence from the western Asian fossil record11, and admixture between AMHs and Neanderthals predating the main Eurasian expansion12, our results contribute to the mounting evidence for the presence of AMHs out of Africa earlier than 75, 000 years ago.

Y-chromosomal variation in West Asian populations has so far been studied in less detail than in the neighboring Europe. Here, we analyzed 598 Y-chromosomes from two West Asian subregions-Transcaucasia and the Armenian plateau-using 40 Y-SNPs and 17 Y-STRs and combined them with previously published data from the region. The West Asian populations fell into two clusters: upland populations from the Anatolian, Armenian and Iranian plateaus, and lowland populations from the Levant, Mesopotamia and the Arabian Peninsula. This geographic subdivision corresponds with the linguistic difference between Indo-European and Turkic speakers, on the one hand, and Semitic speakers, on the other. This subdivision could be traced back to the Neolithic epoch, when upland populations from the Anatolian and Iranian plateaus carried similar haplogroup spectra but did not overlap with lowland populations from the Levant. We also found that the initial gene pool of the Armenian motherland population has been well preserved in most groups of the Armenian Diaspora. In view of the contribution of West Asians to the autosomal gene pool of the steppe Yamnaya archaeological culture, we sequenced a large portion of the Y-chromosome in haplogroup R1b samples from present-day East European steppe populations. The ancient Yamnaya samples are located on the "eastern" R-GG400 branch of haplogroup R1b-L23, showing that the paternal descendants of the Yamnaya still live in the Pontic steppe and that the ancient Yamnaya population was not an important source of paternal lineages in present-day West Europeans.

The paternal haplogroup (hg) N is distributed from southeast Asia to eastern Europe. The demographic processes that have shaped the vast extent of this major Y chromosome lineage across numerous linguistically and autosomally divergent populations have previously been unresolved. On the basis of 94 high-coverage re-sequenced Y chromosomes, we establish and date a detailed hg N phylogeny. We evaluate geographic structure by using 16 distinguishing binary markers in 1,631 hg N Y chromosomes from a collection of 6,521 samples from 56 populations. The more southerly distributed sub-clade N4 emerged before N2a1 and N3, found mostly in the north, but the latter two display more elaborate branching patterns, indicative of regional contrasts in recent expansions. In particular, a number of prominent and well-defined clades with common N3a3'6 ancestry occur in regionally dissimilar northern Eurasian populations, indicating almost simultaneous regional diversification and expansion within the last 5,000 years. This patrilineal genetic affinity is decoupled from the associated higher degree of language diversity.

Yu.P. Altukhov suggested that heterozygosity is an indicator of the state of the gene pool. The idea and a linked concept of genetic ecological monitoring were applied to a new dataset on mtDNA variation in East European ethnic groups. Haplotype diversity (an analog of the average heterozygosity) was shown to gradually decrease northwards. Since a similar trend is known for population density, interlinked changes were assumed for a set of parameters, which were ordered to form a causative chain: latitude increases, land productivity decreases, population density decreases, effective population size decreases, isolation of subpopulations increases, genetic drift increases, and mtDNA haplotype diversity decreases. An increase in genetic drift increases the random inbreeding rate and, consequently, the genetic load. This was confirmed by a significant correlation observed between the incidence of autosomal recessive hereditary diseases and mtDNA haplotype diversity. Based on the findings, mtDNA was assumed to provide an informative genetic system for genetic ecological monitoring; e.g., analyzing the ecology-driven changes in the gene pool.

An analysis of the reproduction of three species of medicinal leeches (genus Hirudo) was carried out. The highest fecundity (34.34 ± 3.72 hatchlings per leech) was observed in H. verbana, the lowest in H. medicinalis (11.10 ± 2.56). The heaviest hatchlings were found in H. medicinalis (0.046 ± 0.0005 g), the lightest in H. verbana (0.032 ± 0.0003 g). Hirudo orientalis had an intermediate fecundity (21.63 ± 3.39 hatchlings per leech) and its hatchlings were of intermediate weight (0.038 ± 0.0005 g). The species differ in their growth rate and mortality: Hirudo verbana had the smallest hatchlings and the lowest survivorship but its growth rate was highest among the three species. The results agree with sister relationships between H. medicinalis and H. orientalis and the basal position of H. verbana with respect to them. The reproductive traits of the three species suggest that H. verbana is an r-strategist that inhabits unstable environments, such as temporary ponds in steppe landscapes, whereas its congen...

1. Distribution and status of medicinal leeches were re-considered in the light of the new taxonomy recognizing four Western Palaearctic species: Hirudo medicinalis, Hirudo verbana, Hirudo orientalis and Hirudo troctina. 2. Recent records and new data obtained on expeditions to Ukraine, Russia, Azerbaijan, Kazakhstan, Uzbekistan and the Western Balkans were mapped to obtain an up-to-date overview of the distribution. 3. Three hypotheses explaining the current ranges of all Hirudo species were tested. The ecological hypothesis, suggesting a strong impact of large-scale environmental factors, received the highest support, while anthropogenic influence was minimal, and no historical patterns of refugia and colonization were detected. 4. Mapped localities of all Hirudo species show extensive, belt-shaped ranges extending from east to west. H. medicinalis is distributed from Britain and southern Norway to the southern Urals and probably as far as the Altai Mountains, occupying the deciduous arboreal zone. H. verbana has been recorded from Switzerland and Italy to Turkey and Uzbekistan, which largely corresponds to the Mediterranean and sub-boreal steppe zone. H. orientalis is associated with mountainous areas in the sub-boreal eremial zone and occurs in Transcaucasian countries, Iran and Central Asia. H. troctina has been found in north-western Africa and Spain in the Mediterranean zone. 5. Based on the data gathered, and considering real and potential threats, global IUCN category Near Threatened is proposed for H. medicinalis, H. verbana, and H. orientalis, while H. troctina can only be assigned to category Data Deficient. Copyright © 2010 John Wiley & Sons, Ltd.

Since the 18th century, the medicinal leech Hirudo medicinalis has been thought to comprise a single species with several different color morphs, but recently some of these color morphs have been assigned to separate species based on morphology, geographical distribution, and molecular sequence data. This research was aimed at testing the ability of three of these species, H. medicinalis, Hirudo verbana, and Hirudo orientalis, to interbreed. We found that in the laboratory, all three species were able to mate with each other and produce hybrid offspring. This suggests that the reproductive isolation is not strong among these species of the genus Hirudo. However, fewer offspring were produced from interspecific crosses compared with intraspecific crosses. This decrease of fecundity (and in some cases, offspring viability) indicates some degree of reproductive isolation between H. medicinalis, H. verbana, and H. orientalis.

It is commonly thought that human genetic diversity in non-African populations was primarily shaped by a recent out-of-Africa dispersal. Here we present a large geographical Y chromosome study using 459 high coverage sequences, including 302 newly reported here. We date the Y chromosomal Most Recent Common Ancestor (MRCA) in Africa at 254 (95% CI 192- 307) kya and differentiation of African and non-African lineages 52-121 kya. The age estimates for major non-African founder haplogroups cluster closely in a narrow time interval at 47-52 kya, consistent with a rapid initial colonization model of Eurasia and Oceania after the out-of-Africa bottleneck. We find that the highest basal Y chromosome diversity outside Africa has been preserved in South and Southeast Asians while extant Y chromosome diversity in Europe and the Near East stems from a small number of mid-Holocene founders. In contrast to demographic reconstructions based on mtDNA, we infer a second strong bottleneck, followed by a fast recovery in Old World populations dating to the last 10 ky. We hypothesize that this bottleneck is caused by cultural changes affecting variance of reproductive success among males.

Y-chromosomal haplogroup G1 is a minor component of the overall gene pool of South-West and Central Asia but reaches up to 80% frequency in some populations scattered within this area. We have genotyped the G1-defining marker M285 in 27 Eurasian populations (n= 5,346), analyzed 367 M285-positive samples using 17 Y-STRs, and sequenced ~11 Mb of the Y-chromosome in 20 of these samples to an average coverage of 67X. This allowed detailed phylogenetic reconstruction. We identified five branches, all with high geographical specificity: G1-L1323 in Kazakhs, the closely related G1-GG1 in Mongols, G1-GG265 in Armenians and its distant brother clade G1-GG162 in Bashkirs, and G1-GG362 in West Indians. The haplotype diversity, which decreased from West Iran to Central Asia, allows us to hypothesize that this rare haplogroup could have been carried by the expansion of Iranic speakers northwards to the Eurasian steppe and via founder effects became a predominant genetic component of some populations, including the Argyn tribe of the Kazakhs. The remarkable agreement between genetic and genealogical trees of Argyns allowed us to calibrate the molecular clock using a historical date (1405 AD) of the most recent common genealogical ancestor. The mutation rate for Y-chromosomal sequence data obtained was 0.78×10-9 per bp per year, falling within the range of published rates. The mutation rate for Y-chromosomal STRs was 0.0022 per locus per generation, very close to the so-called genealogical rate. The "clan-based" approach to estimating the mutation rate provides a third, middle way between direct farther-to-son comparisons and using archeologically known migrations, whose dates are subject to revision and of uncertain relationship to genetic events.

We sequenced the genomes of a ∼7,000-year-old farmer from Germany and eight ∼8,000-year-old hunter-gatherers from Luxembourg and Sweden. We analysed these and other ancient genomes1,2,3,4 with 2,345 contemporary humans to show that most present-day Europeans derive from at least three highly differentiated populations: west European hunter-gatherers, who contributed ancestry to all Europeans but not to Near Easterners; ancient north Eurasians related to Upper Palaeolithic Siberians3, who contributed to both Europeans and Near Easterners; and early European farmers, who were mainly of Near Eastern origin but also harboured west European hunter-gatherer related ancestry. We model these populations’ deep relationships and show that early European farmers had ∼44% ancestry from a ‘basal Eurasian’ population that split before the diversification of other non-African lineages., Instituto Multidisciplinario de Biología Celular

The area of what is now the Ukraine has been the arena of large-scale demographic processes that may have left their traces in the contemporary gene pool of Ukrainians. In this study, we present new mitochondrial DNA data for 607 Ukrainians (hypervariable segment I sequences and coding region polymorphisms). To study the maternal affinities of Ukrainians at the level of separate mitochondrial haplotypes, we apply an original technique, the haplotype co-occurrence analysis. About 20% of the Ukrainian maternal gene pool is represented by lineages highly specific to Ukrainians, but is scarcely found in other populations. About 9% of Ukrainian mtDNA lineages are typical for peoples of the Volga region. We also identified minor gene pool strata (1.6-3.3%), each of which is common in Lithuanians, Estonians, Saami, Nenets, Cornish, and the populations of the North Caucasus.

The Slavic branch of the Balto-Slavic sub- family of Indo-European languages underwent rapid divergence as a result of the spatial expansion of its speakers from Central-East Europe, in early medieval times. This expansion–mainly to East Europe and the northern Balkans–resulted in the incorporation of genetic components from numerous autochthonous populations into the Slavic gene pools. Here, we characterize genetic variation in all extant ethnic groups speaking Balto- Slavic languages by analyzing mitochondrial DNA (n = 6, 876), Y-chromosomes (n = 6, 079) and genome-wide SNP profiles (n = 296), within the context of other European populations. We also reassess the phylogeny of Slavic languages within the Balto-Slavic branch of Indo- European. We find that genetic distances among Balto-Slavic populations, based on autosomal and Y-chromosomal loci, show a high correlation (0.9) both with each other and with geography, but a slightly lower correlation (0.7) with mitochondrial DNA and linguistic affiliation. The data suggest that genetic diversity of the present-day Slavs was predominantly shaped in situ, and we detect two different substrata: ‘central-east European’ for West and East Slavs, and ‘south-east European’ for South Slavs. A pattern of distribution of segments identical by descent between groups of East- West and South Slavs suggests shared ancestry or a modest gene flow between those two groups, which might derive from the historic spread of Slavic people.