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Goal: Mitochondrial haplogroup (hg) X was estimated to originate in the Near East cca 30 ka years ago. Its approximate prevalence in the general European population is 2%, with most sublineages belonging to the X2 clade. The X2 clade is far less common in Croatian insular populations according to our previous findings - 6 out of 13 detected X samples belong to a new, local variant based on specific mutations in both the control and coding region of the mitochondrial genome. The aim of this study was to fully explore mentioned 6 mitochondrial haplotypes found in islands of Rab and Cres. Materials and methods: Complete sequencing of one Rab and one Cres mitochondrial genome was performed using both Sanger sequencing and massively parallel sequencing with the Illumina® Human mtDNA Genome assay on MiSeq FGx™ instrument. Results: Sequenced samples indicate a novel lineage within the global mitochondrial X hg phylogeny according to both PhyloTree and Mitomap. The lineage is connected with the hg X3 by a common polymorphism G3531A in the coding region of the mitochondrial genome, but it lacks all other X3 defining mutations. Mutations specific for this lineage are T195C, C338T, A7518G, G7853A, A10113G, C10673T, C10920T, A11380G, A13614G, C13950T, A15903G, G15927A, T16136C and A16289G. Analysis of non-phylogenetic variants exposed a rare, A7518G mutation in the tRNA gene, which is predicted as possibly pathogenic by MitoTIP. Findings of different heteroplasmic mutation patterns between samples indicate a more distant kinship within the same mitochondrial lineage. Conclusion: Our finding indicates a recent local microdifferentiation process within hg X. Described lineage could possibly be marked as a new, island-specific X twig formed within the Croatian population. The extension of present research, including genealogical and clinical data, is needed to confirm further enrichment of existing mtDNA phylogeny and to establish possible functional manifestations of locally specific variants.
X haplogroup ; mtDNA ; massively parallel sequencing
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