Ludmila Osipova

• PhD
• Principal Investigator at Institute of Cytology and Genetics, Russian Academy of Sciences

The study of immune response and inflammation gene polymorphisms in a genogeographic context is relevant in the study of human populations. Here, in the indigenous populations of Siberia the frequencies of polymorphic variants -174G/C (rs1800795) and -572C/G (rs1800796) of the IL6 gene encoding the proinflammatory cytokine IL-6 were determined. For...

The study of immune response and inflammation gene polymorphism in a genogeographic context is a relevant direction in the study of human populations. Here, in the indigenous populations of Siberia the frequencies of polymorphic variants ‒174G/C (rs1800795) и ‒572C/G (rs1800796) of the IL6 gene encoding the proinflammatory cytokine IL-6 were determ...

Hepatitis B is a major public health problem worldwide. The indigenous population of remote regions with harsh living conditions, such as the Far North of Russia, with possibly unique genetic mutations in the local strains of this pathogen, remains poorly studied. The aim of the study was to determine the prevalence of serological HBV markers in bl...

A total of 381 hepatitis B virus (HBV) DNA sequences collected from nine groups of Siberian native populations were phylogenetically analyzed along with 179 HBV strains sampled in different urban populations of former western USSR republics and 50 strains from Central Asian republics and Mongolia. Different HBV subgenotypes predominated in various...

Investigation of the frequencies of functionally signif icant gene variants in the context of medical biology and gene geography is a relevant issue for studying the genetic structure of human populations. The transition from a traditional to an urbanized lifestyle leads to a higher incidence of civilizational diseases associated with metabolic dis...

To study the affinities of Siberian populations and to address hypotheses on the origin of the Samoyed peoples, 567,096 autosomal genome-wide single-nucleotide polymorphisms (SNPs) and 147 Y-chromosome data from 15 Siberian and 12 reference populations were examined. For several analyses, we used the intersection of our data with publicly available...

Studies are shown on many aspects of migration, population development, human genetics, archaeology, anthropology, biology, linguistics, and a broad range of genomic studies on migration and cultural and social structures in the past and present. Human migration started in Africa spread to Asia and other regions of our globe and was assessed by stu...

To search for new targets of therapy, it is necessary to reconstruct the gene network of the disease, and identify the interaction of genes, proteins, and drug compounds. Using the online bioinformatics tools we have analyzed the current data set related to the metabolism of xenobiotics, mediated by the N-acetyltransferase 2 (NAT2) gene. The study...

Background: N-acetyltransferase 2 plays a crucial role in the metabolism of a wide range of xenobiotics, including many drugs, carcinogens, and other chemicals in the human environment. The article presents for the first time data on the frequency of two important "slow" variants of NAT2 gene (NAT2*5, rs1801280 and NAT2*7, rs1799931), which signif...

Lipid metabolism disorders underlie the pathogenesis of a number of diseases. Indigenous peoples of Siberia have a specific genetically determined type of metabolism supporting such lipid blood parameters that favor increased consumption (in comparison with Caucasians) of animal products. At the same time, indigenous Siberian ethnic groups are less...

The indigenous inhabitants of Siberia live in some of the harshest environments on earth, experiencing extended periods of severe cold temperatures, dramatic variation in photoperiod, and limited and highly variable food resources. While the successful long-term settlement of this area by humans required multiple behavioral and cultural innovations...

Objectives We examined autosomal genome‐wide SNPs and Y‐chromosome data from 15 Siberian and 12 reference populations to study the affinities of Siberian populations, and to address hypotheses about the origin of the Samoyed peoples. Methods Samples were genotyped for 567 096 autosomal SNPs and 147 Y‐chromosome polymorphic sites. For several analy...

Background: The genetic origins of Uralic speakers from across a vast territory in the temperate zone of North Eurasia have remained elusive. Previous studies have shown contrasting proportions of Eastern and Western Eurasian ancestry in their mitochondrial and Y chromosomal gene pools. While the maternal lineages reflect by and large the geograph...

The study of the gene polymorphism of the system of biotransformation of xenobiotics is an important area of modern medical and genetic research. the aim of this work is to study the frequency of the alleles of the CYP1A1 (A2455G (*2C), rs1048943), CYP2D6 (A2549del (*3), rs35742686); G1846A (*4), rs3892097) genes of teleuts (n = 115), eastern Burya...

We studied the concentrations of insulin, cortisol and glucose in blood serum of two groups of inhabitants of the Yamalo-Nenets Autonomous okrug (YaNAO) settlements (indigenous population and those who arrived from Central Russia). The insulin level in all groups (in indigenous and non-native population, men and women) was above 9.0 μIU/mL. The ins...

Siberia is one of the coldest environments on Earth and has great seasonal temperature variation. Long-term settlement in northern Siberia undoubtedly required biological adaptation to severe cold stress, dramatic variation in photoperiod, and limited food resources. In addition, recent archeological studies show that humans first occupied Siberia...

This paper concerns a polymorphism of the cytochrome Р450 CYP1A1 gene, the CYP1A1*2C variant (Ile462Val, rs1048943). This substitution results in the doubling of enzyme activity, which leads to the accumulation of active intermediates and increases the risk of DNA mutations and chemically induced carcinogenesis. It has been demonstrated that the 46...

Readable link: http://rdcu.be/kt5n High-coverage whole-genome sequence studies have so far focused on a limited number of geographically restricted populations or been targeted at specific diseases, such as cancer. Nevertheless, the availability of high-resolution genomic data has led to the development of new methodologies for inferring populatio...

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 estab...

The work concerns a polymorphism of the cytochrome Р450 CYP1A1 gene, the CYP1A1*2C variant (Ile462Val, rs1048943). This substitution results in a two- fold increase in enzyme activity, which leads to accumulation of active intermediates and increases the risk of DNA mutations and chemically induced carcinogenesis. It has been demonstrated that the...

The first study on the frequencies of polymorphic variants of the GSTP1 gene encoding glutathione-S-transferase P1 in Tundra Nenets and Nganasan populations was performed. The subject of the study was the single nucleotide polymorphisms rs1695 (Ile105Val substitution in the protein sequence) and rs1138272 (Ala114Val substitution) that had previousl...

Effect of prolonged and chronic exposure has a lot to do but ultimately radically different. Aim—analysis of the adaptation processes induced by prolonged and chronic exposure and identification their direction and consequences. Objects—plant: pea and plantain seeds; animal : small rodents; human populations living in the contaminated territories....

How and when the Americas were populated remains contentious. Using ancient and modern genome-wide data, we find that the ancestors of all present-day Native Americans, including Athabascans and Amerindians, entered the Americas as a single migration wave from Siberia no earlier than 23 thousand years ago (KYA), and after no more than 8,000-year is...

The large scale genome wide association studies (GWAS) have identified approximately 80 single nucleotide polymorphisms (SNPs) conferring susceptibility to type 2 diabetes (T2D). However, most of these loci have not been replicated in diverse populations and much genetic heterogeneity has been observed across ethnic groups. We tested 28 SNPs previo...

The SNPs were chosen with following considerations: (1) GWAS SNPs found to be associated with T2D in an Asian sample were given higher priority; and (2) subsequently, SNPs found to be associated with T2D in multiple studies were included. Genotyping of six SNPs was not successful, thus these SNPs were included from further analysis.

How and when the Americas were populated remains contentious. Using ancient and modern genome-wide data, we found that the ancestors of all present-day Native Americans, including Athabascans and Amerindians, entered the Americas as a single migration wave from Siberia no earlier than 23 thousand years ago (ka) and after no more than an 8000-year i...

The Turkic peoples represent a diverse collection of ethnic groups defined by the Turkic languages. These groups have dispersed across a vast area, including Siberia, Northwest China, Central Asia, East Europe, the Caucasus, Anatolia, the Middle East, and Afghanistan. The origin and early dispersal history of the Turkic peoples is disputed, with ca...

The prevalence of HBsAg and its subtypes and hepatitis B virus (HBV) genotypes in native population groups of five Siberian regions—the Republic of Altai, Kemerovo oblast, Irkutsk oblast, Yamalo-Nenet autonomous oblast (the YaNAO), and Kransnoyarsk krai (a total of 5657 samples)—was studied. Statistically significant differences were found in these...

It is commonly thought that human genetic diversity in non-African populations was shaped primarily by an out-of-Africa dispersal 50-100 thousand yr ago (kya). Here, we present a study of 456 geographically diverse high-coverage Y chromosome sequences, including 299 newly reported samples. Applying ancient DNA calibration, we date the Y-chromosomal...

The structure of hemoglobin (Hb) was examined by UV and IR Fourier spectroscopy. The electronic characteristics of the -conjugated (aromatic) prosthetic group of heme and the content of the secondary structure elements of globin in Hb were studied. Heme and globin are connected to each other by Van der Waals forces. A 8-10 nm short-wave shift of t...

Abstract Association between common intelligence quotient (IQ) and S and L alleles of functional 5HTTLPR polymorphism causing respectively low and high expression of human serotonin transporter coding gene was studied in young (19-35 years, 50 men and 76 women) and older (>55 years, 39 men and 43 women) Caucasian subjects. They were students, scien...

We sequenced genomes from a ~7,000 year old early farmer from Stuttgart in Germany, an ~8,000 year old hunter-gatherer from Luxembourg, and seven ~8,000 year old hunter-gatherers from southern Sweden. We analyzed these data together with other ancient genomes and 2,345 contemporary humans to show that the great majority of present-day Europeans der...

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 analyzed these and other ancient genomes1–4 with 2,345 contemporary humans to show that most present Europeans derive from at least three highly differentiated populations: West European Hunter-Gatherers (WHG),...

The origins of the First Americans remain contentious. Although Native Americans seem to be genetically most closely related to east Asians, there is no consensus with regard to which specific Old World populations they are closest to. Here we sequence the draft genome of an approximately 24,000-year-old individual (MA-1), from Mal'ta in south-cent...

In recent decades radiobiologists efforts have been directed at identifying the mechanisms of radiation effects; the general mechanisms have since been studied extensively. This book describes and analyzes radiation-induced adaptation as processes produced in cells, tissues, and populations. This viewpoint helps to understand the nature and factors...

Background Sakha – an area connecting South and Northeast Siberia – is significant for understanding the history of peopling of Northeast Eurasia and the Americas. Previous studies have shown a genetic contiguity between Siberia and East Asia and the key role of South Siberia in the colonization of Siberia. Results We report the results of a high-...

Here, the ecological investigations which were performed by statistical modelling are presented. The aim of these investigations was to study the effects of the fallout of operating nuclear station which do not exceed the background (the annual γ-radiation dose rates are ≈0.10–0.15 μSv/h) on plantain populations growing in the 30-km zone of the sta...

The radiation effects on the human populations living in regions distant from the sites of nuclear explosions that took place in the middle of the previous century are analyzed. The statistical modelling was performed to study the occurrence frequency of abnormal lymphocyte cells among the proliferated ones in the blood of individuals living in the...

This chapter presents the approximations, calculations and methods that require the use of statistical modelling. Special attention is devoted to the analysis of chemical pollution near a nuclear power plant which can induce cell damages or imitate the dependence of the distribution parameters on the average daily fallout. Eight topics will be disc...

General regularities of low dose-rate radiation effects were determined on plant seeds in laboratory experiments. Three groups of seeds were tested: young, old, and heat-stressed because aging and high temperature are the usual natural factors. Statistical modelling has shown that the adaptation processes have three components: primary injuring, la...

The consequences of background-level radiation often provoke debates, and here statistical ideas and their mathematical basis are considered in view of adaptation processes. Statistical modelling presents the data of investigations in the form of frequency function of events occurrence that allows studying the laws and regularities of respective pr...

This review presents data on the low-dose radiation effects and their mathematical models. Its purpose is to demonstrate that radiation stress leads to processes of instability that can be revealed as different phenomena. The phenomena of radioadaptation, nonlinear response induced by low-dose irradiation, hormetic effect, and continued instability...

Here, we will summarize our knowledge of adaptation and chromosomal instability in terms of inter- and intracellular processes. This point of view presents these phenomena as a natural law regulating survival of organisms in their ecological niches. We emphasize the role of instability in providing the non-linearity characterizing low-radiation eff...

Genetic and demographic characteristics of populations from two settlements from the Aginskii Buryat district of Trans-Baikal krai (Alkhanai and Orlovskii) were studied. It was demonstrated that the mononational Buryat settlement of Alkhanai, located in the agrarian Dul’durginskii region of the district far from large settlements and transport high...

The peopling of the Americas has been the subject of extensive genetic, archaeological and linguistic research; however, central questions remain unresolved. One contentious issue is whether the settlement occurred by means of a single migration or multiple streams of migration from Siberia. The pattern of dispersals within the Americas is also poo...

The Altai region of southern Siberia has played a critical role in the peopling of northern Asia as an entry point into Siberia and a possible homeland for ancestral Native Americans. It has an old and rich history because humans have inhabited this area since the Paleolithic. Today, the Altai region is home to numerous Turkic-speaking ethnic group...

The CYP2D6, GSTM1, and GSTT1 xenobiotic biotransformation genes are involved in processes of carcinogenesis in humans due to the presence of mutant variants that decrease or block the expression of genes. Since the middle of the 20th century, there has been an extensive increase in cancer morbidity in human populations, including indigenous ethnic...

Y-chromosome short tandem repeats (STR) markers are widely used in human population genetic studies and forensic applications. Estimation of Y-STR mutation rate has a key role for dating the origin of Y chromosome lineages and for paternity tests. Previous studies demonstrated significant interlocus difference in mutation rate and the positive corr...

One of the modern problems of radiobiology and radioecology is risk assessment of chromosomal instability in populations that experienced low radiation effects. For these calculations the probability model of adaptation can be used which we suggested earlier (Korogodina VL, Florko BV: Evolution processes in populations of plantain, growing around t...

17 Y-STR haplotypes for Altaian Kazakhs. (PDF)

RST value matrix of Central Asian and Mongolian populations. (PDF)

Kazakh populations have traditionally lived as nomadic pastoralists that seasonally migrate across the steppe and surrounding mountain ranges in Kazakhstan and southern Siberia. To clarify their population history from a paternal perspective, we analyzed the non-recombining portion of the Y-chromosome from Kazakh populations living in southern Alta...

Serological markers and DNA of hepatitis B virus (HBV) were detected in 487 blood samples of aboriginal people in the Alar district of the Irkutsk region (mostly Buryat) in 2005. HBsAg was found in 40 (8.2%) samples. HBV DNA was found in 24 out of 40 (60%) HBsAg-positive samples. HBV-positive DNA samples were found to contain nucleotide sequences o...

It is known that irradiation stress induces late intracellular processes and adaptation. In this paper, we formulate the adaptation hypothesis. On its basis, we present statistical modeling of cellular distributions on the number of chromo-somal abnormalities in root meristems of pea seeds that experienced low-dose-rate irradiation, high temperatur...

We report here the genome sequence of an ancient human. Obtained from approximately 4,000-year-old permafrost-preserved hair, the genome represents a male individual from the first known culture to settle in Greenland. Sequenced to an average depth of 20x, we recover 79% of the diploid genome, an amount close to the practical limit of current seque...

Since 1992 genetic research has greatly illuminated the history of and biological relationships among indigenous Siberian populations. Studies employing the maternally inherited mitochondrial DNA (mtDNA) and the paternally inherited Y-chromosome (NRY) have provided new information about the origins and patterns of dispersal of a variety of the nati...

Recently, the observation of a high-frequency private allele, the 9-repeat allele at microsatellite D9S1120, in all sampled Native American and Western Beringian populations has been interpreted as evidence that all modern Native Americans descend primarily from a single founding population. However, this inference assumed that all copies of the 9-...

In 1653, the Patriarch Nikon modified liturgical practices to bring the Russian Orthodox Church in line with those of the Eastern (Greek) Orthodox Church, from which it had split 200 years earlier. The Old Believers (staroveri) rejected these changes and continued to worship using the earlier practices. These actions resulted in their persecution b...