期刊
ANNALS OF HUMAN GENETICS
卷 78, 期 3, 页码 178-194出版社
WILEY
DOI: 10.1111/ahg.12056
关键词
Žumberak; Southeastern Europe; mitochondrial DNA; X2 phylogeny; genetic outlier
资金
- Croatian Ministry of Science, Education and Sports [196-1962766-2751]
- European Commission, Directorate General for Research for FP7 Ecogene grant [205419]
- European Union European Regional Development Fund through the Centre of Excellence in Genomics
- Estonian Biocentre
- University of Tartu
- Estonian Basic Research Grant [SF0270177s08]
High mtDNA variation in Southeastern Europe (SEE) is a reflection of the turbulent and complex demographic history of this area, influenced by gene flow from various parts of Eurasia and a long history of intermixing. Our results of 1035 samples (488 from Croatia, 239 from Bosnia and 130 from Herzegovina, reported earlier, and 97 Slovenians and 81 individuals from Zumberak, reported here for the first time) show that the SEE maternal genetic diversity fits within a broader European maternal genetic landscape. The study also shows that the population of Zumberak, located in the continental part of Croatia, developed some unique mtDNA haplotypes and elevated haplogroup frequencies due to distinctive demographic history and can be considered a moderate genetic isolate. We also report seven samples from the Bosnian population and one Herzegovinian sample designated as X2* individuals that could not be assigned to any of its sublineages (X2a'o) according to the existing X2 phylogeny. In an attempt to clarify the phylogeny of our X2 samples, their mitochondrial DNA has been completely sequenced. We suppose that these lineages are signs of local microdifferentiation processes that occurred in the recent demographic past in this area and could possibly be marked as SEE-specific X2 sublineages.
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