December 02, 2007

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

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