Genetic Chaos

Thursday, May 13, 2004

Archaeogenetics of Finno-Ugric speaking populations

In our third paper of this series (see Villems et al. 1998; Rootsi et al. 2000) we continue our quest for the genetic origin of Finno-Ugric speaking people and extend our previous analysis of patrilinearly (via Y chromosome) and matrilinearly (via mitochondrial DNA) inherited genes in the Eurasian gene pool of humans. We discuss new data of others as well as ourselves about the westem Eurasian populations and, in particular, those living in Volga basin and the southern Ural region. The conclusions we reach strengthen further previous ideas about a common Palaeolithic mtDNA pool of Europeans, extending to the Ural Mountains. A sharp cline becomes apparent in the southern Ural - western Kazakhstan area, suggesting a predominantly western Eurasian substratum in the European Turkic-speaking populations such as Volga Tatars and Chuvashis, whereas maternal lineages of their immediate neighbors - Bashkirs and Kazakhs - are already largely of an eastern Eurasian origin. We also portrait here the frequency pattern of the Y-chromosomal lineage clusters of 4 Finno-Ugric populations and of 7 from neighboring areas, to reveal both common as well as specific features in the paternal genetic background of the characterized populations.

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The Concepts of Richard Indreko About the Origin of the Finno-Ugric Speakers and the Population Genetics of the Extant North-East European Populations

Archaeologists define their findings in terms of cultures and industries, linguists operate with languages, and the basic unit in biological anthropology is population. Intermarriages of these three systems have raised, and are still doing so, fascinatingly controversial speculations. In the current paper our intention is to discuss the accumulating data of population genetics in a specific context: in the light of scenarios of Richard Indreko, suggested in his half a century old paper. Our approach is to couple the genetic evidence (mitochondrial DNA and Y chromosome data) of Finno-Ugric speaking populations with this archaeological vision.

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Y-Chromosomal SNPs in Finno–Ugric-Speaking Populations Analyzed by Minisequencing on Microarrays

An increasing number of single nucleotide polymorphisms (SNPs) on the Y chromosome are being identified. To utilize the full potential of the SNP markers in population genetic studies, new genotyping methods with high throughput are required. We describe a microarray system based on the minisequencing single nucleotide primer extension principle for multiplex genotyping of Y-chromosomal SNP markers. The system was applied for screening a panel of 25 Y-chromosomal SNPs in a unique collection of samples representing five Finno–Ugric populations. The specific minisequencing reaction provides 5-fold to infinite discrimination between the Y-chromosomal genotypes, and the microarray format of the system allows parallel and simultaneous analysis of large numbers of SNPs and samples. In addition to the SNP markers, five Y-chromosomal microsatellite loci were typed. Altogether 10,000 genotypes were generated to assess the genetic diversity in these population samples. Six of the 25 SNP markers (M9, Tat, SRY10831, M17, M12, 92R7) were polymorphic in the analyzed populations, yielding six distinct SNP haplotypes. The microsatellite data were used to study the genetic structure of two major SNP haplotypes in the Finns and the Saami in more detail. We found that the most common haplotypes are shared between the Finns and the Saami, and that the SNP haplotypes show regional differences within the Finns and the Saami, which supports the hypothesis of two separate settlement waves to Finland.

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On the Phylogeographic Context of Sex-Specific Genetic Markers of Finno-Ugric Populations

Here we extend our earlier analysis of the sex-determined, uni-parentally inherited genetic systems of Finno-Ugric and other populations. In particular, we specify phylogeography of a unique "Nordic" variant of Y chromosomes (the Tat C allele; haplogroup 16 in some of the nomenclatures) by showing that it is virtually absent in all Slavic populations studied by us (Poles, Slovaks, Czechs and Croats), except in Russians. Furthermore, we show that Tat C is absent in Hungarians, but well present among Latvians and Lithuanians. We discuss these findings in terms of the demographic history of the Nordic people. We also present some new data about phylogeography of maternally inherited mitochondrial DNA (mtDNA) variation in order to show that despite the basic uniformity of the Western Eurasian mtDNA gene pool, a more detailed analysis starts to reveal patterns of variations which allow to distinguish between the common founders of the maternal lineages of Caucasoids and between the subsequent radiations of these lineages. Many of these phylogeographically clustered variations are of considerable interest in the reconstruction of ancient demographic movements in Europe and in Western Eurasia in general.

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Reconstruction of Maternal lineages of Finno-Ugric speaking people and some remarks on their Paternal inheritance

Analysis of maternal and paternal lineages of Estonians and other North European Finno-Ugric speaking people reveal their close genetic relatedness. This conclusion is also true for Saami, although genetic drift perhaps does not allow to see it at the first glance. Maternal lineages of Finno-Ugrians are predominantly a subset of these found all over Europe. Among paternal lineages an intriguing link with some Siberian populations was suggested recently by others. Our analysis supports an explanation that a particular mutation under discussion arose in proto-Finno-Ugrians long ago and only later spread eastward.

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