Вестник Московского университета. Серия XXIII. Антропология. Vestnik Moskovskogo Universiteta. Seria XXIII. Antropologia



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Key words: constitution, color, color preference
Section MOLECULAR ANTHROPOLOGY – NEW ADVANCES

THE GENE POOL OF INDIGENOUS CRIMEAN POPULATIONS: MEDITERRANEAN MEETS EURASIAN STEPPE (p. 112)

Agdzhoyan Anastasiya1, Chukhryaeva Marina1,2, Kuznetsova Marina1,2, Skhalyakho Roza1,2, Dibirova Khadizhat1,2, Yusupov Yuldash2,6, Mustafaeva Lilia5, Atramentova Lyubov4, Villems Richard3, Balanovska Elena2, Balanovsky Oleg1,2



1Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia

2Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia

3Estonian Biocentre, Tartu, Estonia

4V.N. Karazin Kharkiv National University, Kharkiv, Ukraine

5Medical Centre for the Formerly Deported Peoples, Simferopol, Russia

6Institute for Humanities Research of Republic of Bashkortostan, Ufa, Russia
Crimean Greeks are far descendants of Ancient Greek Colonists of Crimea and following Greeks migrants. The history of other ethnic group of the Crimean peninsula – Crimean Tatars – is linked with migrations of Eurasian steppe nomads in XIII century, which likely mixed with predating populations of Crimea. Three most informative modern genetic systems were used for the reliable reconstruction of ethnogenesis of these indigenous Crimean populations: 1) genome-wide autosomal SNP markers representing the genetic contribution of both parents; 2) mitochondrial DNA markers (maternal line); 3) Y-chromosomal markers (paternal line). We analyzed totally 400 DNA samples from unrelated male volunteers which representing three sub-ethnic groups of Crimean Tatars (Steppe, Mountain, Coastal) and two sub-ethnic groups of Crimean Greeks (Urums, Romeis). The results of uniparental markers analysis (multidimensional scaling, maps of genetics distances) coincided with that of biparental autosomal SNP markers (principal component and ADMIXTURE analyses). Gene pool of Steppe Crimean Tatars carries mainly the genetic component typical for Turkic populations from Eurasian steppe (Nogais, Uzbeks, Turkmens, Karakalpaks, Kazakhs, Kazan Tatars, Chuvashes). Another genetic component dominant in East Mediterranean peoples (especially, in Greeks and Turks) is mostly expressed in Mountain and Coastal Crimean Tatars and in both Crimean Greeks populations. No notable genetic similarity of indigenous Crimean populations with their closest geographical neighbors – Ukrainians and Russians – was revealed. It is the most likely that discovered features of Steppe Crimean Tatars gene pool reflect the genetic contribution of medieval Eurasian Steppe nomads. The component predominant in Mountain and Coastal Crimean Tatars gene pools and in Crimean Greeks suggests that genetic contribution of East Mediterranean populations continued in Crimea for many centuries. The work has been supported by RFBR grants 13-06-00670, 14-06-31331 and by grant from the Presidium of Russian Academy of Sciences “Dynamics and conservation of gene pools”.

Key words: Crimean Tatars, Crimean Greeks, gene pool, migrations, Eurasian Steppe nomads, East Mediterranean peoples
GEOGRAPHIC VARIATION OF THE HUMAN GENE POOL: THE GLOBAL PATTERNS (p. 113)

Balanovsky Oleg1,2, Koshel Sergey3, Zaporozhchenko Valery1, Pshenichnov Andrey1, Sychev Roman1, Balanovska Elena2



1Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia

2Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia

3Cartographic Department, Lomonosov Moscow State University, Moscow, Russia
The studies of genetic variation in human populations started 100 years ago: in 1914, the pronounced differences in frequencies of blood groups were revealed for the first time. During the century-long history of intensive research the arsenal of population geneticists has changed six times. The immunological markers or blood groups (1) were only available genetic systems for decades until biochemical markers (2) were widely introduced in 1960s. Both types are now known as “classical markers”; the datasets on their variation in human variations worldwide are large and have been summarized by both Western (Cavalli-Sforza et al., 1994) and Russian (Gene pool and gene geography of USSR) scientific gene geographical schools. The classical markers are virtually out of experimental use in present days. But because their variation has been well described and analyzed, these generalized conclusions are widely used as a background for current research. Since 1990s, the mitochondrial DNA (3) and Y-chromosome (4) became the most popular genetic systems in population studies. Hundreds of papers were dedicated to their variation, and accumulated datasets include hundreds thousands of samples from thousands of populations worldwide. However, the number of papers on these markers decreases each year, because the genome-wide (5) and full genome (6) markers are becoming the new favorite tools in the arsenal of researchers, but data on these genetic systems are not abundant yet. Thus, the crucial task is to summarize the accumulated data on mitochondrial DNA and Y-chromosomal variation, to extract the generalized patterns and to make the overall conclusions of the global gene pool structure from these two kinds of genetic data. Then these systems will be for many decades the great story-tellers about general trends in human variation and value of these “new classics” will be high even when no living researcher will remember experimental methods for their analysis. The talk will present the largest databases on mitochondrial DNA and Y-chromosomal variation worldwide and the cartographic atlases summing up both particular and universal patterns of these systems. This study was supported by RFBR grants 13-04-0171, 13-06-00670, 14-06-00384, 13-04-90420, 14-06-31331 and Presidium RAS program “Molecular and cell biology”.

Key words: gene pool, gene geography, database, classical markers, mitochondrial DNA, Y-chromosome, world atlas
BETWEEN ANDES AND AMAZON: GENETIC TRACES OF SEX BIASED SERIAL CONTACT IN THE ARAWAK-SPEAKING YANESHA (p. 114)

Barbieri Chiara1, Heggarty Paul2, Yang Yao Daniele1, Ferri Gianmarco3, De Fanti Sara1, Ciani Graziella1, Boattini Alessio1, Luiselli Donata1, Pettener Davide1



1Department of Biological, Geological and Environmental Sciences, University of Bologna, Bologna, Italy

2Department of Linguistics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany

3Dipartimento di Medicina Diagnostica, Clinica e di Sanitа Pubblica, Universitа degli Studi di Modena e Reggio Emilia, Modena, Italy
The Yanesha are a Peruvian population who inhabit a transitional area between the Andes and Amazonia; their intermediate position may have favored contact flows both in their gene pool and in their cultural characteristics. In particular, the language they speak belongs to the Arawak language family, which suggests an Amazonian origin. However, a strong influence by Quechua, the most widespread language family of the Andes, makes for a more complex demographic past. The Yanesha are investigated here as a case study of language and population dynamics across the Andes-Amazonia divide, with 214 individuals genotyped for both Y chromosome (17 STRs and 16 SNPs diagnostic for assigning haplogroups) and mtDNA data (control region sequences and 4 SNPs diagnostic for assigning haplogroups). We uncover sex-biased genetic trends that probably arose in different stages: first, a male-biased gene flow from Andean regions, genetically consistent with highland Quechua-speakers and probably dating back to Inca expansion; and second, traces of European contact consistent with Y chromosome lineages from Italy and Tyrol, in line with recent migrations. Most research in the history, archaeology and linguistics of South America has long been characterized by perceptions of a sharp divide between the Andes and Amazonia. Our results serve as a clear case-study confirming demographic flows across that ‘divide’.

Key words: Yanesha, mtDNA, Y chromosome, South America, language
THE GENE POOL OF NANAIS FROM RUSSIAN FAR EAST: POPULATION AND CLAN STRUCTURES (p. 115)

Bogunov Yuriy1, Bogunova Anna1,2, Chukhryaeva Marina3,1, Agdzhoyan Anastasiya1, Kuznetsova Marina 3,1, Padyukova Asya4,3, Zhabagin Maxat5,1, Balanovska Elena3, Balanovsky Oleg1,3



1Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia

2Amur State University of Humanities and Pedagogy, Komsomolsk-on-Amur, Russia

3Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia

4Kemerovo State University, Kemerovo, Russia

5Center for Life Sciences, Nazarbayev University, Astana, Kazakhstan
Nanai population is ‘a white spot’ for both genetics and demography, despite it is the largest indigenous ethnic group of the Amur region. The variety of dialects of Nanai language (which belongs to Manchu-Tungus branch of the Altaic family), and Nanai cultural diversity indicate the complex population structure of the ethnos, which was formed on the ancient genetic background by following multiple migrations waves. To determinate the modern demographic structure of Nanais, we analyzed the information from the household books. 8 villages from 3 districts of the Khabarovsk region were studied (more than 5000 records). The villages in Nanai and Solnechny districts (the initial Nanai-area) are mono-ethnic (80% of their population are ethnic Nanais), while in the villages of the Komsomolsky district the proportion of Nanais is twice lower. However, the level of cross-breeding is low (4–11%) in all villages. The obtained results indicate that Nanai population presents a closed demographic system, and the probability of its miscegenation by mixing with other ethnic groups is not significant. The Nanai surnames emerged from their clan names and therefore represent the patrilinear structure of the population. The present day number of clans (13) is twice lower as compared to the 19th century. In every village about half of its population belongs to six clans: Beldy – 23%, Kiel – 9%, Onenko – 8%, Samar – 8%, Khodzher – 7%, Gayker and Passar– 6%. Clans have clear geographical areas: for example, Beldy is frequent in the ‘Upper’ Nanais while Samar is frequent in the ‘Gorin’ Nanais. These demographic data are in agreement with the genetic ones, which we analyzed in the same populations. The four Y-chromosomal haplogroups are the most frequent in the Nanais: С3-М217, С3с-М48, N1c1-М178, О3-М122. The greatest genetic diversity was found in the Beldy clan. It confirms that Beldy is a conglomerate of smaller clans. The gene pools of other clans are so homogeneous that Y-chromosomal haplotype of the clan’s ancestor could be reconstructed. The results show that studying the correlation between clan structure and polymorphism of the Y-chromosome is a promising way to reconstruct the Nanai ethnogenesis. This study was supported by RFBR grants 14-06-00384а, 14-06-10026-к, 13-06-00670.

Key words: Nanais, clan structure, Y-chromosome
GENE POOL OF THE SOUTHWEST ASIA: REFLECTION OF GEOGRAPHICAL RELIEF AND LINGUISTIC STRATIFICATION (p. 116)

Chukhryaeva Marina1,2, Dibirova Khadizhat1,2, Teuchezh Irina1,2, Kuznetsova Marina1,2, Agdzhoyan Anastasiya2, Yepiskoposyan Levon3, Pocheshkhova Elvira4, Balanovsky Oleg2,1



1Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia

2Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia

3Institute of Molecular Biology NAS AR, Yerevan, Armenia

4Kuban State Medical University, Federal Agency of Public Health and Social Development, Krasnodar, Russia
Southwest Asia despite the predominance of mountainous and arid landscapes was not only the birthplace of the ancient states – according to the Anatolian hypothesis it was the homeland of the Indo-European language family. How similar are the gene pools of the Indo-European speaking populations of Southwest Asia to those who speak Semitic and Turkic languages? Is the geographical landscape a factor which shaped the genetic landscape? To answer these questions, we studied the Y-chromosomal gene pool of the Southwest Asia for published data (over 4000 individuals) and our new data on five Armenian populations, covering the area of historic Armenia (436 individuals). The multidimensional scaling (MDS) plot revealed two genetically different groups of the populations in Southwest Asia. The first group included mountain-dwelling populations: Turks, Armenians and different populations from Iran. The second group included populations of Syria, Lebanon, Iraq, and Arabian Peninsula, and thus could be called the “plain” group. The hierarchical analysis of the inter-population variability (AMOVA) confirms this pattern. Genetic differences between “highland” and “plain” groups of populations are nine times higher than the differentiation obtained by grouping populations by standard geographic parameters like latitude and longitude. Armenians formed a subcluster within the “highland” group of populations on the MDS plot. Note, that Georgians (geographical neighbors of Armenians) fall into another (the Caucasus) cluster together with the Abkhazians and the majority of the populations of the North Caucasus. The cartographic analysis confirmed that North Caucasus and Georgian populations are genetically distant from populations of “highland” cluster. Analysis of genetic differentiation of Southwest Asian populations under the linguistic stratification revealed significant differences between the gene pools of the Turkic, Semitic and Indo-European speaking groups. Indo-European groups – Armenians and Iranian populations – are clustered together while Semitic-speakers form a separate cluster. This corresponds well with the geographic division into “plain-dwelling” (Semitic) and “highland-dwelling” (other) populations and suggests that the linguistic stratification could be also considered as the possible factor shaping the structure of Southwest Asian gene pool. The research has been supported by The Presidium of RAS programs: “Molecular and cell biology”, “Fundamental sciences for the medicine”, “Gene pool dynamics”, and RFBR grant 13-04-01711.

Key words: gene pool, Y-chromosome, genetic markers, Southwest Asia, Indo-European language family
APOLIPOPROTEIN E AND ACE GENOTYPES MODULATE ALLOSTATIC LOAD (p. 117)

Crews Douglas E., Donley Gwendolyn

Department of Anthropology and School of Public Health, Ohio State University, Columbus, USA
Over a life span, both failed and successful responses to stressors promote physiological dysfunction, leading eventually to an allostatic load (AL). Adaptive and maladaptive stress responses depend on biology, culture, environment, and previous experience. Additionally, age, sex, occupation, sociocultural factors and self-perceptions affect physiological responses and structure predispositions to non-communicable diseases and mortality. Measurement of AL assesses physiological dysfunction secondary to lifelong responses to stressors. As yet, how genes modulate AL has not been examined. We examined associations of AL with apolipoprotein (Apo) E and H, ACE, and ANP genotypes in 284 American Samoans. AL was measured using seven secondary mediators of allostasis, along with aspects of body habitus and glucose metabolism. AL differed little by Apo H or ANP genotypes. However, significant differences in Al were observed across Apo E and ACE genotypes. Participants with the Apo E 3*2 genotype showed the lowest AL compared to 3*3 or 2*2 genotypes. Women showed the highest AL across all genotypes. Across ACE genotypes, AL was lower in those heterozygous (I/D), than those with the homozygous I/I genotype. Samoan women showed higher AL than men, along with stronger associations of AL with both Apo E genotypes. AL associates significantly with morbidity and mortality across multiple samples, our results suggest these relationships may depend in part on underlying genotypes.

Key words: American Samoans, life span, stress, stressors, physiological dysfunction

GENETIC DIVERSITY OF INDEGENOUS POPULATIONS OF TUVA REPUBLIC ON SNP – HAPLOGROUPS OF Y-CHROMOSOME (p. 117)

Damba Larissa1,2, Skhalyakho Roza2,3, Bogunovа Anna4, Bogunov Yuriy2,3, Agdzhoyan Anastasiya3, Dibirova Khadizhat2,3, Yusupov Uldash5, Zhabagin Maxat6, Balanovsky Oleg3,2



1Research Institute of Medical and Social Problems and Control of the Healthcare, Department of the Tyva Republic, Kyzyl, Russia

2Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia

3Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia

4Amur State University of Humanities and Pedagogy, Komsomolsk-on-Amur, Russia

5Institute for Humanities Research of Republic of Bashkortostan, Ufa, Russia

6Center for Life Sciences, Nazarbayev University, Astana, Kazakhstan
Studying of the genetic diversity of indigenous populations of the Altai-Sayan Mountains creates an additional historical source for reconstruction of ethnogenesis and ancient migratory ways of the populations of Southern Siberia. Polymorphism of the Y-chromosome in four indigenous populations of Tuva (N=333) was studied: Todzhintsy (N=87), Western (N=75), Central (N=81) and Southeast (N=90) Tuvinians. From 16 revealed haplogroups of Y-chromosomes the most frequent are North Eurasian haplogroups Q-M242, N1b-P43, N1c1a-M178, which have captured 60% of a gene pool of Tuvinians and more than 80% of a gene pool of Todzhintsy. At the western Tuvinians (so-called southern Siberian anthropological type) North Eurasian haplogroups N1b-P-43 and N1c1a-M178 prevail, and each of them cover about one-third of the Y-gene pool. Haplogroup Q-M242 is rare, while at Todzhintsy groups it makes half of the Y-gene pool, and at Southeast and Central Tuvinians groups it covers about a quarter of the Y-gene pool. Frequencies of East Eurasian haplogroup C3c-M48 and West Eurasian haplogroup R1a-M-198 at the western Tuvinians are approximately identical – everyone presents about 10% of the Y-gene pool. At the Northeast Tuvinians-Todzhintsy (so-called Katangsky variant of the Baikal anthropological type) after major haplogroup Q-M242, the second and third places are divided between haplogroups N1b-P-43 and N1c1a-M178 (overall about 40%). Other 10% are presented by West Eurasian haplogroups R1a1a-M198, R1b1a2-M269 and East Eurasian haplogroups C3c-M48 and O3-M122. Gene pools of Southeast Tuvinians (so-called Central Asian anthropological type) and the Central Tuvinians, are characterized by the maximum range of haplogroups. More than a quarter of the Y-gene pool belonged to North Eurasian haplogroups Q-M242, the fifth part of the gene pool consists of West Eurasian haplogroup R1a1a-M198. Not only haplogroups N1b-P-43 and N1c1a-M178 are presented with frequencies from 2 to 10%, but also haplogroups C3-M217, С3с-M48, C3d-M407, and O3-M122. The genetic structure of the studied populations of Tuvinians and Todzhintsy was computed by the analysis of molecular variance (AMOVA), with Fst=0.085. The cluster analysis of the populations of Southern Siberia on the matrix of genetic distances (average d=0.4) has shown that all Tuvinians and Todzhintsy formed a united cluster together with Khakas-Sagaytsy. Our results indicate the general background in the origin of the populations of Tuvinians and the preservation of an ancient “Siberian” layer (N1b-P-43, N1c1a-M178, Q-M242) in the gene pool of Todzhintsy in the conditions of geographical isolation in mountain and taiga areas. It can be emphasized that the conditions formed a refugium, where the gene pool kept traces of the ancient population of Southern Siberia.

Key words: Tuvinians, Todzhintsy, ethnogenesis, gene pool, haplogroups
INFLUENCE OF GENETIC POLYMORPHISM +1663A/G TNFR2 ON THE DEVELOPMENT OF CHRONIC TRUE ECZEMA (p. 118)

Denisova Ya., Chournosov M., Krikun E.

Belgorod National Research University, Belgorod, Russia
Among the cases of chronic dermatosis, eczema makes 30 to 40%. The rise of sickness rate, the chronicity of the disease process, the frequent recurrence of its course, insufficient effect of the treatment methods make chronic eczema the most pressing problem in the modern dermatology. At present the leading pathogenic link of eczema development is considered to be a marked immunological disorders. The main role here is played by T-lymphocytes that bear specific receptors to the antigen and discharge a number of proinflammatory cytokines as well as the factors of tumor necrosis and their receptors. In connection with this, the object of this research work is the study of the role of genetic polymorphism +1663A/G TNFR2 in the development of chronic true eczema. 363 persons were examined (58 patients and 305 persons of the control group), all of Russian nationality, natives of the Central Chernozem region of the RF and having no blood relationship. The extraction of genome DNA from peripheral blood is made with the method of phenol-chlorophorm extraction. PCR was made on the amplifier IQ 5 (Bio-Rad) in the real time mode of operation with the use of DNA polymerases Thermus aquaticus and oligonucleotide primers and probes. Genotyping of DNA markers is made with the method of allele discrimination on the base of Tag Man probes. The results of the research revealed the following rates of genotypes among the patients with chronic true eczema: +1663 AA – 6.9%; +1663 AG – 63.8%; +1663GG – 29.3%, and the rates of alleles are as follows +1663A – 38.79%; +1663G – 61.21. The rates of the genotypes in the control group were the following: +1663AA – 21.64%; +1663 AG – 45.24%; +1663GG – 33.12% and the rates of alleles were: +1663A – 44.26%; +1663G – 55.74%. According to this comparative analysis, the statistical significant differences in the concentration of alleles and genotypes of this locus are not revealed in the group of patients and in the control group. This allows us to come to a conclusion that the polymorphism +1663A/G TNFR2 is not associated with the development of chronic true eczema.

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