Key words: eczema, genetic polymorphism, natives of the Central Chernozem region of Russia
DEEP-ROOTING AFRICAN INFLUENCE IN SOUTHWESTERN EUROPE: A VIEW FROM mtDNA IN THE IBERIAN PENINSULA (p. 119)
Hernández Candela L.1, Pereira Luisa2, Dugoujon Jean-Michel3, Soares Pedro2, Reales Guillermo1, Novelletto Andrea4, Rodríguez Juan5, Calderón Rosario1
1Departamento de Zoología y Antropología Física, Facultad de Biología, Universidad Complutense, Madrid, Spain
2Instituto de Patologia e Imunologia Molecular da Universidade do Porto (IPATIMUP), Porto, Portugal
3Laboratoire d’Anthropologie, Centre National de la Recherche Scientifique (CNRS), Université Paul Sabatier, Toulouse, France
4Dipartimento di Biologia, Università Tor Vergata Rome, Italy
5Servicio de Hematología, Hospital Juan Ramón Jiménez, Huelva, Spain
In the past few decades, the gene flow between North Africa and Europe has been a topic of interest for population genetic studies. Key unanswered questions include the timing of migration episodes and their real impact on the European gene pool, the role of physical barriers – as the Mediterranean Sea – and the most plausible dispersal routes for transcontinental crossings. In order to address these topics, different genetic markers have been used. Mitochondrial DNA has shown substantial traces of bidirectional genetic interchange between Africa and Europe, and in a more detailed view between the North of Africa and Iberia. We approached this by analyzing the maternal heritage of the closest Iberian population to North Africa: Andalusia. mtDNA profiles were characterized in two southern Iberian subpopulations, represented by 158 samples from Huelva province and 121 individuals from Granada province. Our results reveal distinctive local histories among Andalusians regarding their maternal legacy, suggesting a role of the westernmost Iberian territory as a noticeable recipient of multiple and diverse human migrations, including relevant African contribution. The African component in western Andalusia was characterized by a high prevalence and diversity of U6 lineage. This finding leads us to further investigate U6 in southern Iberia and northern Africa, by sequencing mitogenomes of 16 U6 Andalusian samples. In order to acquire insight into the other side of the Strait of Gibraltar, we also obtained complete mtDNA sequences from Moroccan Berbers. We then compared these profiles with around 250 U6-genomes reported from literature. The resulting phylogenetic and phylogeographic analyses show that U6 lineage has deep temporal roots in Iberia, revealing old transcontinental human crossings from North Africa to Iberia – and therefore, ancient African traces in Europe.
Key words: gene flow, migration, haplogroup U6, Mediterranean space, phylogeography, phylogeny
NOVEL MODEL OF BIVARIATE ANALYSIS FOR HUMAN GENETIC STUDY. APPLICATION TO MUSCULAR MASS AND METABOLITE LEVEL VARIATION (p. 119)
Korostishevsky Michael, Malkin Ida, Livshits Gregory
Human Population Biology Research Unit, Department of Anatomy and Anthropology, Tel Aviv University, Tel Aviv, Israel
We propose a statistical method of bivariate genetic analysis, designed to evaluate contribution of the DNA polymorphisms such as SNP and familial effects (additive genetic, common environment) to variation of two interrelated traits without predefined distribution (i.e. could be quantitative and/or qualitative phenotypes). Our approach is an alternative of the liability-threshold concept (Falconer, 1965), and it is based on the discrete models of genetic and familial effects. In order to take into account additive effect of the other genes on the traits’, we introduce three independent binary factors ZX, ZY, and ZXY. In our model they represent genetic factors affecting variation of each trait separately (ZX and ZY) and both traits simultaneously (ZXY), pleiotropic effect. Gene-independent effects, caused by random or common familial effects on the phenotype variation are also taken into account in the model. The model application to analysis muscular mass, metabolomics and genotyping data in a large sample of middle-aged UK female twins is exemplified.
Key words: muscular mass, metabolomics, GWAS, bivariate analysis, additive genetic and environmental factors
GENOME DIVERSITY AND EVOLUTION HISTORY OF ETHNIC GROUPS FROM EUROPEAN RUSSIA AND SUB-ARCTIC TRANSURALIC REGION (p. 120)
Limborska S.1, Khrunin A.1, Khokhrin D.1, Verbenko D.1, Gerasimova D.2, Kuchin R.2, Rabinovich V.3
1Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, Russia
2Ugra State University, Khanty-Mansiisk, Russia
3Ugra Research Institute of Cellular Technology with Stem Cell Bank, Khanty-Mansiisk, Russia
Understanding the genetic structure of the European population is very important from historical and anthropological points of view. Several studies have examined the fine-scale structure of human genetic variation in Europe. But populations of Northern-Eastern European area and Sub-Arctic Transuralic region are less investigated. These territories are inhabited by different indigenous Finno-Ugric peoples and ethnic Russians. To explore genetic structure of the region we analyzed single nucleotide polymorphisms using different versions of Illumina BeadChips. Principal components (PC) analysis, ADMIXTURE clustering and Wright’s fixation indices (FST) were used to examine population structure of Khanty, Mansi, Komi, Veps and Russians. Mansi were indigenous inhabitants of Northern European area prior to 17th Century AD. This ethnic group undergone trans-Uralic migration and nowadays inhabits Sub-Arctic Region of Western Siberia. The Khanty, closely related to Mansi by linguistic classification, are the indigenous inhabitants of this region. Both the Mansi and the Khanty peoples have genomic characteristics that differentiated them from all others. Komi are also inhabitants of the territory at Northern-Eastern Europe. Two ethnographic groups of them were included in the study – Izhemski and Priluzski Komi. They formed two neighbored clusters at PC plot. The Veps are the Finno-Ugric minority that is one of the oldest people of northern Europe. They still inhabit some territories of northwest Russia. Veps gene pool reveals similarity with Finns and Komi. Russians are the most abundant people in Northern-Eastern Europe. Principal component analysis showed significant differences between Russians of Northern European region and Russian populations from the central part of Russian Plain. The later Russian populations formed a single cluster on PC plot. In contrast, Northern Russians demonstrated close relationships with Finno-Ugric populations. The results obtained demonstrate distinct ancestry components in the samples from Sub-Arctic Transuralic region, that significantly differs them from all other populations studied.
Key words: genome diversity, population genomics, Eastern Europe, SNP analysis
GENE POOL OF THE TWO GROUPS OF SIBERIAN (TOBOL-IRTYSH) TATARS: ANALYSIS OF THE Y-CHROMOSOMAL SNP-MARKERS (p. 121)
Padyukova Asya1,2,3, Lavryashina Mariya1, Skhalyakho Roza3,.4, Agdzhoyan Anastasiya4, Dibirova Khadizhat3,4, Kuznetsova Marina3, Bogunov Yuriy4, Ulyanova M.1, Tychinskih Z.5, Balanovska Elena3
1Kemerovo State University, Kemerovo, Russia
2Kemerovo State Medical Academy, Kemerovo, Russia
3Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia
4Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia
5Tobolsk State Social-Pedagogical Academy of D.I. Mendeleev, Tobolsk, Russia
Gene pool of Siberian Tatars is a “terra incognita” – there is only data on mtDNA of one population, while the variability of the most informative Y-chromosome has not yet been studied. Siberian Tatars include three major ethno-territorial groups of Turkic speaking populations in Western Siberia: Tomsk Tatars, Barabinsk Tatars and Tobol-Irtysh Tatars. Ethnogenesis of Siberian Tatars included mixing of Ugric, Samoyed, Turkic and partly Mongol tribes in proportions, which were different in territorial groups of Siberian Tatars. Later Bukharian Uzbeks, Teleuts, Kazan Tatars, Bashkirs and Kazakhs were also included in Siberian Tatars. Tobol-Irtysh Tatars of Tyumen region is the largest group of Siberian Tatars. They occupy a central region within their natural area, which was historically the center of consolidation of the Turkic groups in Western Siberia. We examined 140 representatives of Tobol-Irtysh Siberian Tatars in Vagayskii and Tobolskii regions of Tyumen Oblast: Isker-Tobolsk (2 populations) and Ishtyaksk-Toguzsk (2 populations) subgroups. One of the traits of the Isker-Tobolsk Tatars gene pool was its high diversity: none out of the 13 identified haplogroups was predominant. Six most frequent haplogroups (R1a-M198, N1c-LLY22g, Q-M242, H-M69, N1b-P43, R2-M124) cover 80% of the gene pool, with the frequency varying from 6% to 25%. Major Y-chromosomal haplogroup Q-M242 has been found in over one third of the Ishtyaksk-Toguzsk Tatars’ gene pool. In Western Siberia Q-M242 is frequent in Selkups (65%) and Kets (90%), and in Southern Siberia it was met in Altaians and Tuvinians (17%). It may indicate a genetic relationship between these ethnoses. Next to them, by their frequencies, haplogroups R1a-M198 and N1c-LLY22g add up to a quarter of the gene pool of both Ishtyaks-Toguzsk and Isker-Tobolsk Tatars, which indicate their common ethnogenetic roots. In general, both the spectrum and frequency of Y-chromosome haplogroups of Tobol-Irtysh Siberian Tatars demonstrate the similarity of their gene pool with those of Turkic peoples of Siberia. For example, haplogroups R1a1a, N1b, N1c1 and Q are typical for Shors, Altaians and Khakases. However, the ratio of these haplogroups varies depending on the population.The basis of this diversity may lie in particular features of ethnogenesis: unequal contribution from different (by origin) tribes. This study was supported by RFBR grants 13-06-00670, and 14-06-00272.
Key words: Siberian Tatars, Tobol-Irtysh Tatars, ethnogenesis, gene pool, haplogroups
MOLECULAR AND MORPHOLOGICAL CASE OF POTT’S DISEASE FROM THE ÁRPÁDIAN-ERA (p. 122)
Pósa Annamária1,2, Köhler Kitti3, Maixner Frank4, Zink Albert4, Sola Christophe5, Pálfi György1, Mende Balázs Gusztáv3
1Department of Biological Anthropology, University of Szeged, Szeged, Hungary
2Department of Genetics, University of Szeged, Szeged, Hungary
3Research Centre for the Humanities, Institute of Archaeology, Hungarian Academy of Sciences, Budapest, Hungary
4Institute for Mummies and the Iceman, EURAC Research, Bolzano, Italy
5Institut de Génétique et Microbiologie, Campus d’Orsay, Orsay, France
It is well known that tuberculosis (TB) causes 1.5 million deaths every year and one-third of the world’s total population is infected with Mycobacterium tuberculosis (WHO, 2011). These facts give a great importance to paleopathological TB research too. Due to recent development of macroscopic and molecular diagnostic methods in paleopathology and paleomicrobiology, molecular methods for the detection of Mycobacterial ancient DNA (aDNA) have also been developed considerably in the last few years. The osteoarchaeological series of Győr-Pósdomb from the 10-11th century (western Hungary) has already been the subject of preliminary paleopathological studies on TB-related bone lesions, an interesting case with Pott’s disease (Grave No. 187) was detected. The total graveyard contains 217 individuals. Skeletal material of this cemetery was chosen for the macromorphological investigation, which focused both on classical/advanced (tuberculous spondylitis, tuberculous arthritis) stage skeletal TB alterations and atypical/early-stage TB lesions (rib lesions, superficial vertebral changes, endocranial alterations, early-stage spondylodiscitis). In addition, the association of possible stress factors (long bone periostitis, cribra orbitalia, cribra cranii) was also considered. Earlier some cases had been detected from the Roman Period Pannonia and the Avar Age by macromorphological methods. Nevertheless the good state of preservation of this case, the important chronological period of the Hungarian history and the fact that the presence of classical TB symptoms from Árpádian-era have never been detected aDNA by molecular methods before encouraged us to carry out an ancient DNA test of TB-related lesions in this skeleton. Paleomicrobiological analysis was used to study the presence of Mycobacterium tuberculosis DNA both in morphologically positive and negative cases. Samples were examined for the repetitive element IS6110 in the M. tuberculosis complex (MTBC). The currently ongoing spoligotyping and sequencing can give a more accurate picture of the infection by different MTBC pathogens. Our future aims include the examination of the total series of Győr-Pósdomb so that we can clarify a certain degree of the infection in this era. This research was supported by the European Union and the State of Hungary, co-financed by the European Social Fund in the framework of TБMOP 4.2.4. A/2-11-1-2012-0001 “National Excellence Program”.
Key words: paleopathology, aDNA, 10-11th century, skeletal tuberculosis, Mycobacterium tuberculosis complex, Hungary
RECONSTRUCTING THE HUMAN GENETIC HISTORY OF THE IBERIAN PENINSULA. AUTOSOMAL AND UNIPARENTAL MARKERS YIELD PARALLEL RESULTS ON THE PRESENCE OF AFRICAN SIGNATURES IN THE ANDALUSIAN POPULATION STRUCTURE (p. 123)
Reales Guillermo1, Hernández Candela L.1, Dugoujon Jean-Michel2, Novelletto Andrea3, Fortes-Lima César2, Rodríguez Juan4, Calderón Rosario1
1Departamento de Zoología y Antropología Física, Facultad de Biología, Universidad Complutense, Madrid, Spain
2Laboratoire d’Anthropologie, Centre National de la Recherche Scientifique (CNRS), Université Paul Sabatier, Toulouse, France
3Dipartimento di Biologia, Università Tor Vergata Rome, Italy
4Servicio de Hematología, Hospital Juan Ramón Jiménez, Huelva, Spain
The analysis of contemporary human population structure based on numerous and varied markers in genomic regions, and combined by careful sampling strategies is helping us to answer many important questions on human history. Such studies are performed in different geographic scales. The Mediterranean area – a biodiversity hotspot with well-defined characteristics in its geography, archaeology and anthropology – seems to harbour an important fraction of the world human genetic diversity. The Iberian Peninsula, given its location in the south-western corner of Europe and in the immediacy of Africa, has had a decisive role in Europe peopling. Within Iberia, Andalusia – the southernmost region of Spain – deserves a special attention, as it has been a human crossroad open to numerous and different human populations and cultures from all around the Mediterranean. Here we summarize some key results obtained by our team after surveying western and eastern Andalusian population structure, regarding mtDNA and Y-C variation, along with other informative autosomal markers (e.g. GM and APOE). Our data reveal that certain African maternal (e.g. U6 and L) and paternal (e.g. E-M81) lineages are particularly detectable in Andalusians and neighbouring Atlantic Iberian populations. APOE polymorphism –main Alzheimer’s disease susceptibility marker– revealed a somewhat similar landscape in Andalusia and Morocco, thus interrupting its prevalent trend in Europe. The above scenario is consistent with the relatively high incidence of the Sub-Saharan GM 1,17 5* haplotype in south-western Iberia. In conclusion, advances in the knowledge of the genetic structure in western Mediterranean highlight the presence of African genetic signature in the Iberia Peninsula, yet its spatial pattern is not uniform.
Key words: mtDNA and Y-chromosome variation, Western Mediterranean populations, human migrations, genetic structure
MATERNAL AND PATERNAL LEGACIES OF AN EASTERN ADRIATIC GENETIC ISOLATE – AN EXAMPLE OF VARIOUS HISTORICAL AND MICROEVOLUTIONARY FORCES (p. 124)
Šarić Tena1, Šarac Jelena1, Jeran Nina*, Havaš Auguštin Dubravka1, Novokmet Natalija1, Metspalu Ene2, Rootsi Siiri2, Vekarić Nenad3, Missoni Saša1, Villems Richard3, Rudan Pavao1,4
1Institute for Anthropological Research, Zagreb, Croatia
*Institute for Anthropological Research, Zagreb, Croatia, at time of research
2Estonian Biocentre and Institute of Molecular and Cell Biology, Tartu, Estonia
3Institute for Historical Sciences of the Croatian Academy of Sciences and Arts, Dubrovnik, Croatia
4Croatian Academy of Sciences and Arts, Zagreb, Croatia
This study aimed to clarify the effect that evolutionary forces and historical events have had on the population structure of Mljet, an Eastern Adriatic island, through the analyses of mtDNA and Y chromosome variability and comparison between the two markers. As previously reported, island of Mljet has the lowest mtDNA diversity among the Eastern Adriatic islands. We used 39 Y chromosome samples and previously published 68 mtDNA. For comparison, we also used 179 Y chromosome samples from the mainland city of Dubrovnik together with previously reported 181 mtDNAs. Results of both maternal and paternal haplogroup lineages on the island fit within the south-east European context. But, analysis of the mtDNA haplogroup variability showed very low diversity, which was not expected considering the relative closeness of the mainland city of Dubrovnik, as reported in previous research. After Y chromosome analysis, the variation of paternal lineages showed average diversity as usually expected, but it is not in concordance with the low mtDNA diversity. Both mtDNA and Y chromosome results could tell their own separate stories about the shaping of Mljet’s genetic landscape, but combined, they are both an outcome of numerous past demographic and migration processes. Considering very turbulent and unlucky historical events that occurred on the island, severe living environment, the practice of consanguinity and the presence of autochthonous diseases, the island of Mljet serves as an excellent example for studying the interplay of microevolutionary forces and demographic actions that shape the population structure of genetic isolates.
Key words: Island of Mljet, Y chromosome, mtDNA, microevolutionary forces, historical events, population structure, genetic isolate
GENE POOL OF TURKIC SPEAKERS OF THE CAUCASUS IN THE EURASIAN CONTEXT (Y-CHROMOSOMAL PERSPECTIVE) (p. 125)
Skhalyakho Roza1,2, Dibirova Khadizhat1,2, Chukhryaeva Marina1,2, Agdzhoyan Anastasiya2, Kuznetsova Marina1,2, Tagirly S.G.1,2, Pocheshkhova Elvira3, Balanovsky Oleg2,1
1Research Centre for Medical Genetics of Russian Academy of Medical Sciences, Moscow, Russia
2Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia
3Kuban State Medical University, Federal Agency of Public Health and Social Development, Krasnodar, Russia
The complex ethnogenesis of the Turkic populations of the Caucasus included both the pronounced autochthonous component and influence of the incoming Turkic speakers. This pattern was reflected not only in the high anthropological differentiation of the Turkic populations from the Caucasus but also in their gene pool. We studied Y-chromosomal polymorphism in all Turkic ethnic groups of the Caucasus (N=870): Azerbaijanians, Balkars, Karanogais, Karachays, Kuban Nogais, and Kumyks. We identified 39 Y-chromosomal haplogroups, four of which were the most frequent in the gene pool of Turkic peoples: R1a1a-M198 (24%), G2a-P15 (16%), R1b1a2-M269 (14%), and J2-M172 (12%). The phylogenetic analysis of rapidly mutating STRs markers showed high heterogeneity of the gene pool of Turkic peoples of the Caucasus. A number of phylogenetic networks including STR haplotypes not only from Turkic groups of the Caucasus, but also from multiple Turkic peoples of Eurasia were constructed for the first time. The phylogenetic network of haplogroup R1a1a-M198 showed an ancient genetic links between Turkic speakers of the Caucasus and Altai regions, thus indicating the ‘steppe’ component. The phylogenetic network of haplogroup N1-LLY22 revealed the proximity of gene pools of Kazakhs and Karanogais, and also the expressed genetic connection between Balkars and Bashkirs. This connection might indicate the Bashkiro-Nogai migration to the North Caucasus. The map of genetic distances from averaged gene pool of Turkic-speaking groups from the Caucasus to multiple Eurasian populations revealed the greatest genetic similarity in steppes near Black and Caspian seas. Some similarities could be also seen Southwest Asia particularly in North Anatolia and Iran. The Eastern European populations, Turkic peoples from Altai-Sayan and Volga-Uralic region are more genetically distant from Turkic populations from the Caucasus. Note, that indigenous populations of East Caucasus are genetically different from Turkic speakers of the region, despite Kumyks and Azerbaijans dwell the East Caucasus. This study was supported by RFBR grants 13-03-31331-mol_а, 13-06-00670_a.
Key words: Y-chromosome, SNP markers, STR markers, Turkic peoples of the Caucasus, gene pool
GENOMIC VARIATION OF CATECHOL-O-METHYL TRANSFERASE (COMT), DOPAMINE D4 RECEPTOR (DRD4), DOPAMINE D2 RECEPTOR (DRD2) AND MONOAMINE OXIDASE A (MAOA) GENES IN HADZA AND DATOGA MALES (p. 126)
Vasilyev Vasiliy1, Sukhodolskaya Evgenija1, Shibalev Dmitri1, Burkova Valentina2, Karelin Dmitriy3, Mabulla Audax4, Lazebny Oleg5, Butovskaya Marina2, Ryskov Alexey1