ISABS 2007 abstracts

Quite a few interesting abstracts from last year's ISABS Conference (book of abstracts).

Y-CHROMOSOME DIVERSITY IN SOUTHERN URALS: A GEOGRAPHIC BORDER BETWEEN EUROPE AND ASIA

Khusnutdinova E. et al.

Turkic-speaking Bashkirs are dispersed throughout the southern Ural region. They are considered by historians as descendants of Turkic- speaking nomadic communities that arrived in southern Urals at Early Medieval ages and assimilated indigenous population. We performed phylogenetic analysis of Y-chromosome lineages in a sample of 587 Bashkirs drawn from different parts of the southern Ural region and neighbouring areas: Abzelilovskiy (N=152), Sterlibashevskiy (N=54), Baimakskiy (N=95), and Burzyanskiy (N=82) districts of Bashkortostan republic, Orenburg (N=79), Perm (N=72), Samara and Saratov (N=51) Oblasts of Russia. Obtained samples of Y-chromosomes were analyzed using 24 biallelic markers of the Y chromosome non-recombining region. A total of 17 haplogroups were identified among which R1b3-M269, R1a1- SRY 1532, and N3-M46 lineages were predominant. Since N3-M46 lineage is prevalent among neighbouring Finno- Ugric populations and is rarely found in Central Asia, where numerous Turkicspeaking confederations dominated over a long period ancestors of Finno-Ugric groups are probable source population that contributed N3 lineage into Bashkirs. Y- Chromosome lineages specific to Central and East Asian populations (C3c- M48, O-M175) were absent or found with very low overall frequency (less than 10%). The only exception is R1b2 lineage which was found with very high frequency among Transural Bashkirs. Overall prevalence of typical West Eurasian (R1a-SRY 1532 and R1b3- M269) and North Eurasian (N3) lineages imply that Turkic-speaking newcomers were either admixed or genetic input associated with their arrival was limited.

INTRA-ETHNIC VARIATION OF THE Y CHROMOSOME IN EUROPEAN COUNTRIES: A COMPARATIVE STUDY

Balanovsky O et al.

To reveal degree of the regional Y chromosomal variation in Europe we compared our data on Russians (14 regional populations), Ukrainians (4 populations) and Belorussians (2 populations, and 2 populations from Behar et al., 2003) with the published regional data on other European countries. For reliable calculations neighbour populations were pooled to reach sample sizes above 70. To measure the intra-ethnic variation we calculated (i) the average genetic distance between regional populations of every group and (ii) Gst (Fst) variation. Gst value was considered as preferable measure, as it was found to be less sensitive to level of phylogenetic resolution in the data. Croatians, Finns, Russians and Italians were proved to be the most diverse (genetically subdivided) groups; Swedes and Germans demonstrated moderate variation; Greeks, Turks, Poles, Belorussians and Ukrainians were more genetically homogenous, showing lower geographic variation of the paternal lineages inside their countries. However, even lower variation of the Y chromosome is significantly higher as compared with analogous values calculated from mitochondrial DNA and autosomal data. This finding stresses that forensic studies may demand not only country-specific, but provincespecific databases (at least for listed above highly genetically subdivided countries), since haplogroup profiles differ significantly from one province to another, inside the same country. Despite the high intra-ethnic variation (Gst=0.03 on average), the inter-ethnic differences were five times higher (Gst=0.15), revealing dominance of inter-ethnic variation in structuring the paternal gene pool in Europe.

PHYLOGEOGRAPHY OF Y-CHROMOSOMAL LINEAGES IN NORTH EURASIA

Stepanov V et al.

Aim of the study was to reconstruct the evolution of paternal lineages in populations of Siberia, Central Asia and Eastern Europe. Forty population samples from 22 ethnic groups were studied. Totally 1600 Y chromosomes were genotyped for 40 biallelic markers according to Y chromosome consortium (YCC) classification. The microsatellite haplotypes within HG were constructed using 7 STR loci. Thirty one haplogroups were observed, but frequencies of only 7 of them (N3a, R1a1, Q*, C3xC3c, N2, C3c, O3) were higher than 3 percent. In sum these 7 haplogroups comprise 86% of Y-chromosomal gene pool in North Eurasia. The proportion of inter- population differences in the total genetic variability of region's population according to the analysis of molecular variance is 19%. Analysis of genetic relationships between populations reveals three main clusters of populations in space of two first PCs reflecting the differential presence of ancient West-Eurasian Caucasoid, Proto-Uralic and Paleoasiatic components. Based on analysis of microsatellite haplotypes within main Y- chromosomal haplogroups, molecular diversity within monophyletic lineages were calculated and phylogenetic trees for most common haplogroups were reconstructed. Western-Eurasian lineages (R1a1, R1b) are characterized by the maximal diversity in Eastern European populations. Eastern-Eurasian lineages have the high level of diversity in populations of Eastern Siberia and North-East Asia. The age of genetic diversity generation and time of population differentiation (Td) shows that most lineages which are common in North Eurasian populations dated back to Upper Paleolithic period before the last glacial maximum.

THE MITOCHONDRIAL DNA POLYMORPHISM IN UKRAINIAN POPULATION

Grechanina EY et al.

Study of mtDNA polymorphism for estimation genetic diversity of Ukrainian population. There are 239 samples of Ukrainians from different regions of Ukraine. There are sequention of hypervariable segment HVS I in combination with RFLPanalysis of coding sites of mtDNA and phylogeographical analysis. This research was in Estonian Biocenter. Length of sequencing fragment was 377 bp 102 positions from 377 were polymorphic. From these 91 nucleotide substitutions are transitions, with prevalence pyrimidine under purine (69:22). Transversions were in 11 sites. Were determined 157 haplotypes. The most common haplotype (10.0%) corresponds to CRS. Indexes of genetic diversity for Ukrainian population are H=0.986 and Di=5.19. Screening of polymorphic sites established following haplogroups of mtDNA, which have all-European spreading: H-33.5%, V-5.4%, HV-3.7%, J- 11.7%, T-6.7%, U-20.9% (U2, U3, U4, U5, U7, U8), K-2.9%, I-2.1%, W- 2.1%, X-2.5%. Subhaplogroup U3 (2.5%) may testify the presence Iranian component. Subhaplogroup U4 was detected with frequency 3.7%. Subhaplogroup U5 has maximal frequency in Scandinavian people also was detected in Ukrainian population with high frequency 10.8%. Haplogroup V, as marker of Finnish-Hungarian people, has high frequency in Ukrainian population. There were found Asian lines (A, B, C, D, Z) with frequency 2.0%. Data indicate on complicated ethnical formation of modern Ukrainian population, where assimilation processes and inter-ethnic interactions played considerable role. They will be important additions in context about polymorphism of European populations mtDNA.

A GLIMPSE AT THE FRENCH mtDNA GENETIC POOL

Pennarun E et al.

In the coverage of the genetic pool of Europe, some major cavities were left, hence to fill one of them, namely the French mtDNA pool we collected 868 samples from twelve different locations of France. Those samples were sequenced for the hypervariable segment I (HVS-I) and then typed for SNPs in the coding region, either by RFLP or 5' nuclease allelic discrimination, in order to assign them to the right haplogroup. Then the mtDNA gene pools of French Basques and Bretons were compared in terms of frequency and composition with relevant neighbouring populations. The French Basques’ mtDNA pool shares some common cardinal features with that of the Spanish Basques, represented in the high prevalence of haplogroup H. However, the French Basques do show a number of distinct features, most notably expressed in the much higher frequency of haplogroups linked with the Neolithic diffusion in Europe. In Brittany, Finistère shows closer affinities with Britain and Scandinavia than the two other departments of Brittany. The mtDNA haplogroup composition of the French does not differ significantly from the surrounding European genetic landscape. In a finer grain, microgeographical differentiation can be revealed as shown for the French Basque country and for Brittany.

CULTURAL AND GENETIC DIVERSITY IN CENTRAL ANATOLIA: A LOCAL PERSPECTIVE

Gokcumen O et al.

Anatolia has been an important crossroads for numerous populations since the Neolithic. Among these, the Hattis, Urartians, Lydians, Phyrigians and Ottomans emerged in Anatolia proper. In addition, although non-Anatolian in origin, the Hittites, Greeks, Romans and Byzantines influenced and were influenced by local Anatolian cultures. These dynamics, as well as more recent events, such as the Turco-Ottoman War of late 19th century, the reconfiguration of the populations of the Ottoman Empire and the Greek- Turkish population exchange of 1920s, have made Anatolia a culturally and genetically complex region. Despite this complex history, Anatolia has been often been viewed as a uniform cultural landscape. Working from this perspective, previous studies of genetic variation in Anatolia analyzed samples from Turkish populations obtained from mostly urban hospitals or universities. Such studies not only overlooked the regional variation within Anatolia, but also treated contemporary Turkish populations as the direct representatives of Medieval and Neolithic Anatolian populations. To address these problems, we collected ~125 samples and extensive ethnographic data from a location in Central Anatolia southeast of Ankara. The samples were analyzed for mtDNA and NRY diversity, and the resulting data compared with those from previous genetic analyses of Turkish populations. We observed that several ethnic and cultural groups having different population histories co-existed in this location. This pattern likely represents the typical picture of Anatolian variation. We are using our genetic data to help us clarify these distinct population histories in greater detail.

ESHG 2007 abstracts

I had previously posted about a presentation in this year's ESHG conference about the Y chromosomes of Etruscans. At that time, there was no abstract online, but I noticed that the book of abstracts is available (pdf). The conference took place last June and there will be probably publications coming out of the presentations there.

Some interesting abstracts; you will probably find many more in the volume's 396 pages.

Related to the abstract below about ACTN in Finnish athletes.

P1206. ACTN and ACE genotypes in Greek elite athletes

I. D. Papadimitriou et al.

Only a few attempts have been made to shed light upon the influence of genes in making an Olympic champion. The aim of our study is to elucidate the genetic differences among a group of 101 elite Greek power-oriented track and field athletes and a random representative sample (181) of the Greek population by analyzing ACTN3 and ACE genotypes. Athletes were defined as elite and included to the sample if they had represented Greece at the international level. Standard molecular genetic methodologies were followed. Genotype and allele frequencies were compared between elite athletes and controls by the Chi-squared test using the statistical package GENEPOP V. 3.4. Preliminary results for ACE locus indicated that the gene frequencies in the Greek elite athletes are similar to other northern European populations. Furthermore, concerning the ACTN3 locus, it was showed that ACTN3 genotype and allele frequencies in the top power-oriented athletes were statistically significantly different from those in the random
sample of the Greek population: the frequency of the RR ACTN3 genotype in power-oriented athletes vs. the general population was 47.94% vs. 25.97%. The difference was even more prominent for comparison of the subgroup of sprinters to controls. The results suggest an overall
strong association between the presence of the RR genotype and elite power performance. Therefore, the ACTN3 gene might be used as a molecular genetic marker to at least partially predict an athlete’s ability to achieve peak power and sprinting performance.


C17. Origin of the Etruscans: novel clues from the Y chromosome lineages

A. Piazza et al.

Three hypotheses have been proposed on the origin of the distinctive Etruscan civilization and language that flourished ca. 3,000 years before present (BP) in Central Italy: 1) an external Anatolian source (Lydia and Lemnos) as claimed by Herodotus, 2) an autochthonous
process of formation from the preceding Villanovan society as firstly proposed by Dionysius of Halicarnassus and 3) an influence from Northern Europe. A synthetic geographical map summarizing 34 classical genetic markers in Italy differentiates a genetically homogeneous
Central Italian region between the Arno and Tiber rivers (ancient Etruria) from the rest of Italy. While this fact was tentatively interpreted as a genetic footprint of the Etruscans, its verification remained a challenge due to lack of data on differentiation of such markers and its calibration
with time. Here we show the genetic relationships of modern Etrurians, who mostly settled in Tuscany, with other Italian, Near Eastern and Aegean peoples by comparing the Y-chromosome DNA variation in 1,264 unrelated healthy males from: Tuscany-Italy (n=263), North Italy (n=306), South Balkans (n=359), Lemnos island (n=60), Sicily and Sardinia (n=276). The Tuscany samples were collected in Volterra (n=116), Murlo (n=86) and Casentino Valley (n=61).
We found traces of recent Near Eastern gene flow still present in Tuscany, especially in the archaeologically important village of Murlo. The samples from Tuscany show eastern haplogroups E3b1-M78, G2*-P15, J2a1b*-M67 and K2-M70 with frequencies very similar to those observed in Turkey and surrounding areas, but significantly different from those of neighbouring Italian regions. The microsatellite haplotypes associated to these haplogroups allow inference of ancestor lineages for Etruria and Near East whose time to the most recent common ancestors is relatively recent (about 3,500 years BP) and supports a possible non autochthonous post-Neolithic signal associated with the Etruscans.

P1135. Y chromosome analysis in subpopulations of Bashkirs from Russia

A. S. Lobov et al.

The Volga-Ural region which is located between Europe and Asia has been the arena of permanent genetic exchanges among Siberian, Central Asian, Eastern European populations. We have sampled seven Bashkir subpopulations from different parts of the Volga-Ural region and neighboring areas of Russia: Orenburg (N=79), Perm (N=72), Samara and Saratov (N=51), and from Bashkortostan Republic: Abzelilovskiy (N=152), Sterlibashevskiy (N=54), Baimakskiy (N=95), and Burzaynskiy area (N=82). These samples are currently being analyzed using 24 diallelic markers of Y-chromosome (M89, M9, M20, M48, M73, M130, M170, M172, M175, M201, M207, M214, M217, M231, M253, M269, M306(M173), P15, P37, P43, SRY1532, Tat, 92R7(M74), 12f2). According to our preliminary findings Turkic speaking Bashkirs are characterized by prevalence of R1b3 and R1a lineages. Among all subpopulations, Perm and Baimakskiy area represent with hight frequency (0.748 0.769,).It indicate there closeness with West European populations. Haplogroup R1a have frequency value 0.486 in Samara and Saratov’s Bashkirs and frequency value 0.370 Bashkirs from Sterlibashevskiy area. The N3 characterize for subpopulation Bashkirs from Sterlibashevskiy area (0.537), Orenburg (0.342). Bashkirs from Abzelilovskiy area have main frequency (0.474). These differences possibly indicate that different subpopulations of Bashkirs have different origin. We found that Bashkirs from Perm district were characterized by relatively low genetic diversity, which could be explained by founder effect. Bashkirs from Orenburg region which are anthropologically closer to Ugro-Finnic populations are characterized by high frequency of N3 haplogroup. We will try to compare our results with archeologycal, historycal and anthropological data in discussed about of origin of different groups Bashkir

P1191. Analysis of mitochondrial DNA polymorphism in four Siberian ethnic groups

M. V. Golubenko et al.

Mitochondrial DNA polymorphism was studied in 1130 individuals from 12 populations of the most numerous Siberian peoples - Altaians (4 populations), Tivinians (3 populations), Yakuts (2 populations) and Buryats (3 populations). 308 different HVS1 haplotypes were revealed
in total which belong to 34 different mtDNA haplogroups, mainly of East-Eurasian origin. Portion of “West-Eurasian” mtDNA haplogroups was the highest in Altaians (up to 46%) and Buryats (up to 20%). AMOVA analysis has shown that 95,78% of HVSI variation was within populations, 2.09% could be explained by inter-population differentiation and 2.09% was variability between ethnic groups. Test on differentiation of polymorphism in population pairs has shown that in all cases except the pair of Yakut samples the differentiation was significant. AMOVA analysis for separate ethnic groups revealed the highest degree of intraethnic differentiation for Altaians (3.78%), followed by Tuvinians (2.61%) and then Buryats (0.43%). Comparison of spectrum of
haplogroups and individual haplotypes in the populations under investigation also shows significant differentiation of native Siberian populations. Only two haplotypes from haplogroup C and one haplotype from D could be considered as common for all four ethnicities. One more
haplotype from C was abundant in Tuvinians, Yakuts and Buryats but rare in Altaians. Substantial number of haplotypes was population-specific. Analysis of migrations and interethnic marriages revealed various effects of these factors depending both on ethnicity and particular
population. The results suggest considerable ethnic differentiation in the studied Siberian peoples, as well as geographic differentiation.


P1192. Paleomolecular genetic analyses (mitochondrial and nuclear DNA polymorphisms) on some Thracian populations from Romania, dating from the Bronze and Iron Age

G. M. Cardos et al.

We have performed this study on the skeletal remains of some old Thracian populations from Romania, dating from the Bronze and Iron Age. Therefore, within our research we analysed mtDNA (HVR I and HVR II regions) and nuclear DNA (vWA31A Microsatellite) polymorphisms
in order to show the degree of their genetic kinship with other old and modern European populations, especially with nowadays Romanian population. We also amplified the Amelogenin gene to identify the genetic sex of old individuals. We have used three methods for DNA-extraction from human fossils and adapted them on the degradation
state of the biological material: the phenol-chloroform DNA extraction method, the DNA extraction method with guanidine-tiocianate and silica-particles, and the DNA-extraction method with Invisorb Forensic After amplifying by PCR, the mtDNA sequences were sequenced
by the Sanger method. The nuclear vWA31A Microsatellite polymorphisms and the Amelogenin gene sequences were demonstrated on PAA gel, Ag-stained.
We have compared the mtDNA sequences of 50 old Thracian individuals with mtDNA sequences of the present-day Romanian population and other European, Asian and African modern and old populations. The frequencies of vWA31A Microsatellite were compared with similar genetic data of other modern populations from all over the world. Our results suggest that the old Thracian populations might have made an important contribution to the foundation of the modern genetic Romanian pool and also reflect an evident genetic similarity between the old Thracian populations and other modern populations from South-East Europe.

P1193. Analyses of mitochondrial and Y-chromosomal lineages in modern Hungarian, Szekler and ancient Hungarian populations

B. Csányi et al.

Hungarian population belongs linguistically to the Finno-Ugric branch of the Uralic language family. High-resolution mtDNA analysis of 27 ancient samples (10th-11th centuries), 101 modern Hungarian, and 76 modern Hungarian-speaking Szekler samples was performed. Only two of 27 ancient Hungarian samples are unambiguously Asian: the rest belong to one of the western Eurasian haplogroups. Statistical analyses, including 57 European and Asian populations, revealed that some Asian affinities and the genetic effect of populations who came into contact with ancient Hungarians during their migrations are seen. Though strong differences appear when the ancient Hungarian samples are analyzed according to apparent social status, as judged by grave goods. mtDNA results demonstrate that significant genetic differences exist between the ancient and recent Hungarian-speaking populations. The Y-chromosomal base substitution ”Tat”, proved to be a valuable marker in the Finno-Ugric context. The Tat C allele is widespread in many Uralic-speaking populations, while it is virtually absent in recent Hungarians. To further elucidate this finding we studied this polymorphism on 100 modern Hungarian, 97 Szekler and 4 ancient Hungarian samples. Our data revealed that only one Szekler men carries the C allele among the modern individuals, whereas out of the four skeletal remains two possess the mutation. Furthermore we examined 22 Y-chromosomal binary markers to analyze the paternal genetic diversity of the two recent populations.
Our results show that Hungarians and Szeklers share basically the same genetic components found in other European populations, genetically closely related and close to other populations from Central Europe and the Balkan.

P1219. Possible common origin for the Tibeto-Burman and Austro-Asiatic speaking populations of India: a Y-chromosome study