engleski

Maternal and Paternal Genetic Landscape of SEE, with Special Regards to Population Dynamics and Substructure of the Žumberak Province

Current patterns of genetic variation are used to gain an insight into past population processes and uniparental markers play a key role in the reconstruction of genealogies and genetic histories of populations. High mtDNA and Y chromosome variation of this region reflects the turbulent and complex demographic history of SEE, influenced by gene flow from various parts of Eurasia and a long history of intermixing. Our results of 954 samples from four SEE populations (Croatians, Slovenians, Bosnians, Herzegovinians) show that their maternal genetic diversity fits within the wider European maternal genetic landscape, but in spite of the geographical proximity of sampled populations, certain differences can be observed in mtDNA haplogroup composition and variation. SEE paternal genetic variation is also consistent with the typical European Y chromosome gene pool. However, distribution of major Y chromosomal lineages and estimated expansion signals clarify the specific role of this region in structuring of European paternal genetic heritage and suggest the existence of a Balkan refugium during last glacialization. We additionally analyzed the population dynamics and substructure of the Žumberak province (81 sample), since its history and migration processes offer interesting insights when included in a wider context. Our mtDNA results show that the Uskoks from Žumberak developed some unique haplotypes and elevated haplogroup frequencies during their genetic history probably due to isolation, population bottlenecks and the accompanying effect of genetic drift. The observed reduction in both haplogroup and haplotype internal diversity values also agrees with the action of evolutionary forces. However, concerning the haplogroup composition, it seems their recent genetic history (the last four centuries) has had more impact on their maternal genetic landscape than the earlier historical migrations, since they share most similarities with the Slovenians.

maternal and paternal genetic heritage; SEE; Žumberak

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