title: Maternal genetic heritage of Southeastern Europe reveals a new Croatian isolate and a novel, local sub-branching in the x2 haplogroup.
abstract: 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 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.
authors.affiliation: Institute for Anthropological Research, 10000 Zagreb, Croatia.
authors.forename: Jelena
authors.initials: J
authors.lastname: Sarac
authors.forename: Tena
authors.initials: T
authors.lastname: Sarić
authors.forename: Dubravka Havaš
authors.initials: DH
authors.lastname: Auguštin
authors.forename: Nina
authors.initials: N
authors.lastname: Jeran
authors.forename: Lejla
authors.initials: L
authors.lastname: Kovačević
authors.forename: Svjetlana
authors.initials: S
authors.lastname: Cvjetan
authors.forename: Ana Perinić
authors.initials: AP
authors.lastname: Lewis
authors.forename: Ene
authors.initials: E
authors.lastname: Metspalu
authors.forename: Maere
authors.initials: M
authors.lastname: Reidla
authors.forename: Natalija
authors.initials: N
authors.lastname: Novokmet
authors.forename: Maruška
authors.initials: M
authors.lastname: Vidovič
authors.forename: Branimir
authors.initials: B
authors.lastname: Nevajda
authors.forename: Anton
authors.initials: A
authors.lastname: Glasnović
authors.forename: Damir
authors.initials: D
authors.lastname: Marjanović
authors.forename: Saša
authors.initials: S
authors.lastname: Missoni
authors.forename: Richard
authors.initials: R
authors.lastname: Villems
authors.forename: Pavao
authors.initials: P
authors.lastname: Rudan
mesh_terms: D000704:Analysis of Variance; D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000235:genetics*; D051456:Gene Flow / Q000235:genetics*; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D010802:Phylogeny; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D015022:Yugoslavia / Q000208:ethnology
chemical_list: D004272:DNA, Mitochondrial
keywords: Southeastern Europe; X2 phylogeny; genetic outlier; mitochondrial DNA; Žumberak