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Maternal genetic heritage of Southeastern Europe reveals a new Croatian isolate and a novel, local subbranching in X2 haplogroup

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 Žumberak, 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 Žumberak, 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 asigned to any of its sublineages (X2a’o) according to the existing X2 phylogeny. In 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 micro-differentiation processes that occured in a recent demographic past of this area and could possibly be marked as SEE-specific X2 sublineages.

mitochondrial DNA; Southeastern Europe; genetic outlier; Žumberak; X2 phylogeny

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