Analysis of genetic diversity of Russian regional populations based on STR markers used in DNA identification

We conducted the first genetic analysis of a wide a range of rural Russian populations in European Russia with a panel of DNA markers commonly used in Human DNA 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 markers 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 allele frequencies, examined the distribution of alleles and genotypes in seven rural Russian populations, and analyzed the genetic relationships between these populations. We found that, although multidimensional analysis indicated a difference between the Northern Russian 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 in urban Russian populations. Therefore, the database of allele 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 southern and central Russian populations, which is consistent with trends identified previously using classical gene markers and analysis of mitochondrial DNA.     

植物分子群体遗传学研究动态

分子群体遗传学是当代进化生物学研究的支柱学科, 也是遗传育种和关于遗传关联作图和连锁分析的基础理论学科。分子群体遗传学是在经典群体遗传的基础上发展起来的, 它利用大分子主要是DNA序列的变异式样来研究群体的遗传结构及引起群体遗传变化的因素与群体遗传结构的关系, 从而使得遗传学家能够从数量上精确地推知群体的进化演变, 不仅克服了经典的群体遗传学通常只能研究群体遗传结构短期变化的局限性, 而且可检验以往关于长期进化或遗传系统稳定性推论的可靠程度。同时, 对群体中分子序列变异式样的研究也使人们开始重新审视达尔文的以“自然选择”为核心的进化学说。到目前为止, 分子群体遗传学已经取得长足的发展, 阐明了许多重要的科学问题, 如一些重要农作物的DNA多态性式样、连锁不平衡水平及其影响因素、种群的变迁历史、基因进化的遗传学动力等, 更为重要的是, 在分子群体遗传学基础上建立起来的新兴的学科如分子系统地理学等也得到了迅速的发展。文中综述了植物分子群体遗传研究的内容及最新成果。     

Invasion genetics of the Mediterranean fruit fly: variation in multiple nuclear introns

Biological invasions generally start from low initial population sizes, leading to reduced genetic variation in nuclear and especially mitochondrial DNA. Consequently, genetic approaches for the study of invasion history and population structure are difficult. An extreme example is the Mediterranean fruit fly, Ceratitis capitata (Medfly), for which successive invasions during this century have resulted in a loss of 60% of ancestral genetic variation in isozymes and 75% of variation in mitochondrial DNA. Using Medflies as an example, we present a new approach to invasion genetics that measures DNA sequence variation within introns from multiple nuclear loci. These loci are so variable that even relatively recently founded Medfly populations within California and Hawaii retain ample genetic diversity. Invading populations have only lost 35% of the ancestral genetic variation. Intron variation will allow high-resolution genetic characterization of invading populations in both natural and managed systems, although non-equilibrium methods of analysis may be necessary if the genetic diversity represents sorting ancestral polymorphism.     

Differentiation of mitochondrial DNA and Y chromosomes in Russian populations

The genetic composition of the Russian population was investigated by analyzing both mitochondrial DNA (mtDNA) and Y-chromosome loci polymorphisms that allow for the different components of a population gene pool to be studied, depending on the mode of DNA marker inheritance. mtDNA sequence variation was examined by using hypervariable segment I (HVSI) sequencing and restriction analysis of the haplogroup-specific sites in 325 individuals representing 5 Russian populations from the European part of Russia. The Y-chromosome variation was investigated in 338 individuals from 8 Russian populations (including 5 populations analyzed for mtDNA variation) using 12 binary markers. For both uniparental systems most of the observed haplogroups fell into major West Eurasian haplogroups (97.9% and 99.7% for mtDNA and Y-chromosome haplogroups, respectively). Multidimensional scaling analysis based on pairwise F(ST) values between mtDNA HVSI sequences in Russians compared to other European populations revealed a considerable heterogeneity of Russian populations; populations from the southern and western parts of Russia are separated from eastern and northern populations. Meanwhile, the multidimensional scaling analysis based on Y-chromosome haplogroup F(ST) values demonstrates that the Russian gene pool is close to central-eastern European populations, with a much higher similarity to the Baltic and Finno-Ugric male pools from northern European Russia. This discrepancy in the depth of penetration of mtDNA and Y-chromosome lineages characteristic for the most southwestern Russian populations into the east and north of eastern Europe appears to indicate that Russian colonization of the northeastern territories might have been accomplished mainly by males rather than by females.     

Genetic epidemiological study of monogenic hereditary diseases in the Republic of Tatarstan: Population dynamic factors determining the differentiation of the load of hereditary diseases in five districts

A genetic epidemiological study has been performed in five districts of the Republic of Tatarstan, Russia: Arsky, Atninsky, Kukmorsky, Buinsky and Drozhzhanovsky raions. The total size of the population surveyed is 188397 people. Tatars accounted for 77.13% of the population analyzed (145466 people) and were represented by two main ethnic groups: Kazan Tatars and Mishars. The medical genetic study encompassed the total population of the districts, irrespective of ethnicity, and was carried out according to the standard protocol developed in the Laboratory of Genetic Epidemiology of the Research Center for Medical Genetics of the Russian Academy of Medical Sciences. After segregation analysis, the prevalence rates of the main types of monogenic hereditary disorders (MHDs), i.e., autosomal dominant (AD), autosomal recessive (AR), and X-linked diseases, have been calculated for the total population of the five districts and for Tatars alone. The prevalence rates of AD, AR, and X-linked diseases considerably vary in different subpopulations. The largest difference in the MHD prevalence rate has been found between the rural and urban populations. The overall prevalence rate of MHDs was one patient per 293 urban residents and populations and one patient per 134 rural residents, with a wide variation between subpopulations, from 1: 83 people in the rural population of Atninsky raion to 1: 351 people in the town of Kukmor. Comparison of the MHD prevalence rate in Tatars with those in populations surveyed earlier has shown that the characteristics of the load of MHDs in the Tatar population are similar to those in some districts of the republics of Bashkortostan, Udmurtia, Mari El, and Chuvachia. In Russian populations of European Russia, the MHD prevalence rates are substantially lower. Correlation analysis has shown high (r = 0.5?C0.9) significant correlations between the local inbreeding (a), the im index, the random inbreeding (F _ST), and the AD and AR prevalence rates in the Tatar population. This analysis has demonstrated that genetic drift is the main population dynamic factor determining the MHD load in the Tatar population.     

Poliomyelitis in Tajikistan. Protection of Russia from emergence and spread of wild poliomyelitis virus

Problem of emergence and spread of poliomyelitis in Russian Federation and neighboring states is examined. Measures taken in Russian Federation to prevent emergence of poliomyelitis cases caused by wild type virus are discussed, as well as treaties and agreements between Russia, Commonwealth of Independent States, Shanghai Cooperation Organization states regarding epidemiological control of poliomyelitis and acute flaccid paralysis. Measure planned by Federal Service for Surveillance for Protection of Consumers Rights and Human Welfare to prevent emergence of poliomyelitis and acute flaccid paralysis cases in Russian Federation and neighboring countries are presented.     

Phylogeography of Scots pine in Europe and Asia based on mtDNA polymorphisms

We analyzed mitochondrial DNA polymorphisms to search for evidence of the genetic structure and patterns of admixture in 124 populations (N = 1407 trees) across the distribution of Scots pine in Europe and Asia. The markers revealed only a weak population structure in Central and Eastern Europe and suggested postglacial expansion to middle and northern latitudes from multiple sources. Major mitotype variants include the remnants of Scots pine at the north-western extreme of the distribution in the Scottish Highlands; two main variants (western and central European) that contributed to the contemporary populations in Norway and Sweden; the central-eastern European variant present in the Balkan region, Finland, and Russian Karelia; and a separate one common to most eastern European parts of Russia and western Siberia. We also observe signatures of a distinct refugium located in the northern parts of the Black Sea basin that contributed to the patterns of genetic variation observed in several populations in the Balkans, Ukraine, and western Russia. Some common haplotypes of putative ancient origin were shared among distant populations from Europe and Asia, including the most southern refugial stands that did not participate in postglacial recolonization of northern latitudes. The study indicates different genetic lineages of the species in Europe and provides a set of genetic markers for its finer-scale population history and divergence inference.     

Migration as the main factor of the Russia’s urban population dynamics

This review summarizes the results of the long-term studies performed at the Institute of General Genetics, Russian Academy of Sciences, in the field of genetic demography of migration processes in Russia and its capital. The main population-genetic parameters of migration and their dynamics in Moscow over a hundred years are given. Sociodemographic and population-genetic implications of migration processes are considered. A model predicting the population gene pool dynamics under migration pressure for genes of different localization (autosomal, sex-linked, and mitochondrial), exemplified by predicting the allele frequency dynamics in the Moscow population of some gene markers, including genes accounting for monogenic pathology and genes associated with resistance to socially significant diseases, are presented. The paper discusses the selective character of migration processes, in particular, processes of emigration, with respect to some genetically significant ethnodemographic traits; the problem of adaptation of migrants; and adaptive strategies of consolidation of ethnoconfessional groups in the megalopolis (compact settlement over the urban territory and positive assortative mating with respect to demographic traits). It was shown that, owing to the intense influx of migrants and gene flows between ethnic groups, the population of the megalopolis is of mixed origin in terms of ethnic, anthropologic, and genetic aspects. The results of the study suggest the necessity to develop a specific strategy of genetic database formation for the population of megalopolises for the purposes of medical genetics and forensic medicine.     

Conservation genetics of the Far Eastern leopard (Panthera pardus orientalis)

The Far Eastern or Amur leopard (Panthera pardus orientalis) survives today as a tiny relict population of 25-40 individuals in the Russian Far East. The population descends from a 19th-century northeastern Asian subspecies whose range extended over southeastern Russia, the Korean peninsula, and northeastern China. A molecular genetic survey of nuclear microsatellite and mitochondrial DNA (mtDNA) sequence variation validates subspecies distinctiveness but also reveals a markedly reduced level of genetic variation. The amount of genetic diversity measured is the lowest among leopard subspecies and is comparable to the genetically depleted Florida panther and Asiatic lion populations. When considered in the context of nonphysiological perils that threaten small populations (e.g., chance mortality, poaching, climatic extremes, and infectious disease), the genetic and demographic data indicate a critically diminished wild population under severe threat of extinction. An established captive population of P. p. orientalis displays much higher diversity than the wild population sample, but nearly all captive individuals are derived from a history of genetic admixture with the adjacent Chinese subspecies, P. p. japonensis. The conservation management implications of potential restoration/augmentation of the wild population with immigrants from the captive population are discussed.     

Current rabies epizootiology

Situation in rabies in the Russian Federation (RF) remains to be tense and is characterized by important specific features. Central Russia and the Moscow region have essential differences in the epizootic situation, the epizootological structure of rabies and other indices as compared with the Russian Federation. In the course of the last 25 years the ecological stereotype of rabies has undergone considerable transformations, becoming natural focal infection with the circulation of the infective agent among wild carnivores, which is now particularly obvious in the Moscow region. In 1998 a sharp rise in rabies morbidity occurred in Central Russia: peak values exceeded average annual values 2 times for the RF, 4 times for Central Russia and more than 10 times for the Moscow region. The situation in rabies in the Moscow region permits to use it as a model in the study of today rabies.     

Mitochondrial DNA variation in Russian populations of Stavropol krai,Orel and Saratov oblasts

Mitochondrial DNA (mtDNA) polymorphism was examined in three Russian populations from the European part of Russia (Stavropol krai, Orel oblast, and Saratov oblast). This analysis showed that mitochondrial gene pool of Russians was represented by the mtDNA types belonging to haplogroups H, V, HV*, J, T, U, K, I, W, and X. A mongoloid admixture (1.5%) was revealed in the form of mtDNA types of macrohaplogroup M. Comparative analysis of the mtDNA haplogroup frequency distribution patterns in six Russian populations from the European part of Russia indicated the absence of substantial genetic differences between them. However, in Russian populations from the southern and central regions the frequency of haplogroup V (average frequency 8%) was higher than in the populations from more northern regions. Based on the data on mtDNA HVS1 sequence variation, it was shown that the diversity of haplogroup V in Russians (h = 0.72) corresponded to the highest h values observed in Europe. The reasons for genetic differentiation of the Russian population (historical, ecological, and adaptive) are discussed.     

In situ population structure and ex situ representation of the endangered Amur tiger

The Amur tiger ( Panthera tigris altaica ) is a critically endangered felid that suffered a severe demographic contraction in the 1940s. In this study, we sampled 95 individuals collected throughout their native range to investigate questions relative to population genetic structure and demographic history. Additionally, we sampled targeted individuals from the North American ex situ population to assess the genetic representation found in captivity. Population genetic and Bayesian structure analyses clearly identified two populations separated by a development corridor in Russia. Despite their well-documented 20th century decline, we failed to find evidence of a recent population bottleneck, although genetic signatures of a historical contraction were detected. This disparity in signal may be due to several reasons, including historical paucity in population genetic variation associated with postglacial colonization and potential gene flow from a now extirpated Chinese population. Despite conflicting signatures of a bottleneck, our estimates of effective population size ( N _e = 27–35) and N _e /N ratio (0.07–0.054) were substantially lower than the only other values reported for a wild tiger population. Lastly, the extent and distribution of genetic variation in captive and wild populations were similar, yet gene variants persisted ex situ that were lost in situ . Overall, our results indicate the need to secure ecological connectivity between the two Russian populations to minimize loss of genetic diversity and overall susceptibility to stochastic events, and support a previous study suggesting that the captive population may be a reservoir of gene variants lost in situ .     

Genetic Variation of the Siberian Sturgeon (<Emphasis Type="Italic">Acipenser baerii</Emphasis> Brandt, 1869) in Aquaculture

Genetic variation of aquaculture broodstocks of the Siberian sturgeon of different origin from 13 farms across the Russian Federation was assessed at five tetraploid microsatellite loci and the mitochondrial DNA control region. At present, in aquaculture stocks of Siberian sturgeon originating from the Lena and Ob rivers, a sharp decline of haplotype diversity is observed. The most part of aquaculture individuals carry two major haplotypes characteristic of the European part of Russia (the Lena aquaculture) and two haplotypes characteristic of the western part of Siberia (the Ob aquaculture). According to the results of the microsatellite analysis, in sturgeon aquaculture stock originating from the Lena River, two genetic clusters can be distinguished. One of these clusters is represented by the stocks composed of inbred individuals and, because of this, is characterized by depleted allelic variation and the loss of rare alleles.     

Conservation genetics of the pond bat (Myotis dasycneme) with special focus on the populations in northwestern Germany and in Jutland,Denmark

Conservation genetics is important in the management of endangered species, helping to understand their connectivity and long‐term viability, thus identifying populations of importance for conservation. The pond bat (Myotis dasycneme) is a rare species classified as “Near Threatened” with a wide but patchy Palearctic distribution. A total of 277 samples representing populations in Denmark, Germany, Latvia, Hungary, and Russia were used in the genetic analyses; 224 samples representing Denmark, Germany, and Russia were analyzed at 10 microsatellite loci; 241 samples representing all areas were analyzed using mitochondrial D‐loop and cytochrome B sequences. A Bayesian clustering approach revealed two poorly resolved clusters, one representing the Danish and German groups and the other the Russian group. However, significantly different pairwise F_ST and D_EST estimates were observed between the Danish and German groups and between the Danish and Russian groups suggesting a recent population structure. These conflicting results might be attributed to the effect of migration or low resolution due to the number of microsatellite markers used. After concatenating the two mitochondrial sequences, analysis detected significant genetic differentiation between all populations, probably due to genetic drift combined with a founder event. The phylogenetic tree suggested a closer relationship between the Russian and Northern European populations compared to the Hungarian population, implying that the latter belongs to an older ancestral population. This was supported by the observed haplotype network and higher nucleotide diversity in this population. The genetic structuring observed in the Danish/German pond bat stresses the need for a cross‐border management between the two countries. Further, the pronounced mtDNA structuring, together with the indicated migration between nearby populations suggest philopatric female behavior but male migration, emphasizes the importance of protecting suitable habitat mosaics to maintain a continuum of patches with dense pond bat populations across the species' distribution range.     

New data on the distribution of hybrid necrosis genes in winter bread wheat (Triticum aestivum L.) cultivars

Hybrid necrosis genotypes have been identified in 125 Russian cultivars of winter bread wheat. More than half of them (56%) carry the Ne2 gene (genotype ne1ne1Ne2Ne2); others are free of necrosis genes (genotype ne1ne1ne2ne2). The possible causes of the increase in the Ne2 allele frequency and the loss of the Ne1Ne1ne2ne2 genotype in modem Russian cultivars of winter wheat are discussed. The principal component method has been used to compare the structures of the genetic diversity of cultivars differing in the hybrid necrosis genotype. It has been found that the Ne2 allele in winter wheat cultivars from northern Russia has originated from the cultivar Mironovskaya 808, whereas the cultivar Bezostaya 1 is not a source of this gene. In cultivars from southern Russia, the presence of the Ne2 allele is also mainly accounted for by the use of Mironovskaya 808 wheat in their breeding. The recessive genotype is explained by the presence of descendants of the cultivar Odesskaya 16 in the pedigrees of southern Russian winter wheats. The genetic relationship of cultivars with identical and different necrosis genotypes has been analyzed in nine regions of the Russian Federation.     

Human genetic admixture

Throughout human history, large-scale migrations have facilitated the formation of populations with ancestry from multiple previously separated populations. This process leads to subsequent shuffling of genetic ancestry through recombination, producing variation in ancestry between populations, among individuals in a population, and along the genome within an individual. Recent methodological and empirical developments have elucidated the genomic signatures of this admixture process, bringing previously understudied admixed populations to the forefront of population and medical genetics. Under this theme, we present a collection of recent PLOS Genetics publications that exemplify recent progress in human genetic admixture studies, and we discuss potential areas for future work.     

Russian genofond. Genogeography of surnames

Surnames are traditionally used in population genetics as "quasi-genetic" markers (i.e., analogs of genes) when studying the structure of the gene pool and the factors of its microevolution. In this study, spatial variation of Russian surnames was analyzed with the use of computer-based gene geography. Gene geography of surnames was demonstrated to be promising for population studies on the total Russian gene pool. Frequencies of surnames were studied in 64 sel'sovets (rural communities; a total of 33 thousand persons) of 52 raions (districts) of 22 oblasts (regions) of the European part of Russia. For each of 75 widespread surnames, an electronic map of its frequency was constructed. Summary maps of principal components were drawn based on all maps of individual surnames. The first 5 of 75 principal components accounted for half of the total variance, which indicates high resolving power of surnames. The map of the first principal component exhibits a trend directed from the northwestern to the eastern regions of the area studied. The trend of the second component was directed from the southwestern to the northern regions of the area studied, i.e., it was close to latitudinal. This trend almost coincided with the latitudinal trend of principal components for three sets of data (genetic, anthropological, and dermatoglyphical). Therefore, the latitudinal trend may be considered the main direction of variation of the Russian gene pool. The similarity between the main scenarios for the genetic and quasi-genetic markers demonstrates the effectiveness of the use of surnames for analysis of the Russian gene pool. In view of the dispute between R. Sokal and L.L. Cavalli-Sforza about the effects of false correlations, the maps of principal components of Russian surnames were constructed by two methods: through analysis of maps and through direct analysis of original data on the frequencies of surnames. An almost complete coincidence of these maps (correlation coefficient rho = 0.96) indicates that, taking into account the reliability of the data, the resultant maps of principal components have no errors of false correlations.     

Historical geography of pearl harvesting and current status of populations of freshwater pearl mussel Margaritifera margaritifera (L.) in the western part of Northern European Russia

This paper summarises data on the occurrence of freshwater pearl mussel Margaritifera margaritifera in the western part of Northern European Russia adjacent to White Sea, Barents Sea, Onega Lake and Ladoga Lake basins. Also, this article provides an overview of the literature-based data and archive materials on the history of pearl harvesting. We include a list of rivers of Northwestern Russia, where pearls were harvested during the period of the sixteenth to twentieth centuries. The pearl mussel populations at the present time exist in at least 24 water streams in Northwestern Russia. Many of these populations are in high abundance and are able to reproduce normally. Data on the status of populations are given in this paper. Data indicate that the pearl mussel population in Russia contains >143.5 million individuals, but this estimation is certainly undervalued. Timber floating (timber floating is the transport of timber on waterways), hydro-engineering construction, pollution of rivers by industrial wastes and introduction of alien species, as well as a reduction in host fish species numbers can all be cited as the main factors that transformed the ecosystems inhabited by pearl mussel of Northern Russia. In addition, methods used in the Russian Federation for decreasing the anthropogenic load on pearl mussel populations were considered.     

Molecular genetic analysis of wild soybean (Glycine soja Sieb. & Zucc.) population structure in anthropogenic and natural landscapes of Primorskii krai

The data are presented on genetic population structure of wild soybean growing in natural and anthropogenically disturbed landscapes of Primorskii krai of the Russian Federation. Comparative analysis showed that wild soybean populations exposed to anthropogenic influence exhibited lower genetic diversity than natural populations. Recommendations on conservation of the wild plant gene pools using comparative data on population genetic structures are made.     

Mitochondrial DNA Variation in Russian Populations of Stavropol Krai, Orel and Saratov Oblasts

Mitochondrial DNA (mtDNA) polymorphism was examined in three Russian populations from the European part of Russia (Stavropol krai, Orel oblast, and Saratov oblast). This analysis showed that mitochondrial gene pool of Russians was represented by the mtDNA types belonging to haplogroups H, V, HV*, J, T, U, K, I, W, and X. A mongoloid admixture (1.5%) was revealed in the form of mtDNA types of macrohaplogroup M. Comparative analysis of the mtDNA haplogroup frequency distribution patterns in six Russian populations from the European part of Russia indicated the absence of substantial genetic differences between them. However, in Russian populations from the southern and central regions the frequency of haplogroup V (average frequency 8%) was higher than in the populations from more northern regions. Based on the data on mtDNA HVS1 sequence variation, it was shown that the diversity of haplogroup V in Russians (h= 0.742) corresponded to the highest h values observed in Europe. The reasons for genetic differentiation of the Russian population (historical, ecological, and adaptive) are discussed.