Presentation number: AG 4

A NEW FINDING WITHIN THE MITOCHONDRIAL X HAPLOGROUP IN CROATIAN ISLAND ISOLATES CONFIRMED BY MASSIVELY PARALLEL SEQUENCING

Dubravka Havaš Auguštin1, Marina Korolija2, Jelena Šarac1, Kristian Vlahoviček3, Natalija Novokmet1, Saša Missoni1,4, Andrea Ledić2, Adela Makar2

1Centre for Applied Bioanthropology, Institute for Anthropological Research, Zagreb, Croatia, 2Forensic Science Centre “Ivan Vučetić”, Ministry of the Interior, Zagreb, Croatia, 3Bioinformatics Group, Faculty of Science, University of Zagreb, Zagreb, Croatia, 4School of Medicine, “J. J. Strossmayer” University of Osijek, Osijek, Croatia

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. 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. 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. 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.

Key words: X haplogroup, mtDNA, massively parallel sequencing


Presentation number: AG 5

GENETIC SUB-STRUCTURING OF CROATIAN ISLAND POPULATIONS IN A WIDER SOUTHEAST-EUROPEAN CONTEXT- A META-ANALYSIS

Natalija Novokmet1, Ana Galov2, Vedrana Škaro1,3, Petar Projić1,3, Jelena Šarac1, Dubravka Havaš Auguštin1, Saša Missoni1,4, Pavao Rudan5, Dragan Primorac4,6,7,8,9,10,11,12,13,14, Damir Marjanović1,15

1Laboratory for Molecular Anthropology, Center for Applied Bioanthropology, Institute for Anthropological Research, Zagreb, Croatia, 2Department of Biology, Faculty of Science, University of Zagreb, Zagreb, Croatia, 3DNA Laboratory, Genos Ltd., Zagreb, Croatia, 4School of Medicine, University of Osijek, Osijek, Croatia, 5Scientific Council for Anthropological Research, Croatian Academy of Sciences and Arts, Zagreb, Croatia, 6St. Catherine Hospital, Zagreb, Croatia, 7School of Medicine, University of Split, Split, Croatia, 8University Department of Forensic Sciences, University of Split, Split, Croatia, 9Faculty of Dental Medicine and Health, University of Osijek, Osijek Croatia, 10University of Rijeka, School of Medicine, Rijeka, Croatia, 11Eberly College of Science, Pennsylvania State University, University Park, PA, USA, 12Henry C. Lee College of Criminal Justice and Forensic Sciences, University of New Haven, West Haven, CT, USA, 13Medical School REGIOMED, Coburg, Germany, 14The National Forensic Sciences University, Gandhinagar, Gujarat, India, 15Department of Genetics and Bioengineering, International Burch University, Sarajevo, Bosnia and Herzegovina

Goal was to determine the influence of island population isolation on the sub structuring of the Croatian population, and the influence of regional population groups on the sub structuring of Southeast Europe with regards to basic population genetic statistical parameters calculated using STR locus analysis. Bio-statistical analyzes were performed for a total sample of 2877 unrelated participants of both sexes from the area of Southeastern Europe was analyzed. Nine autosomal STR loci (D3S1358, vWA, FGA, TH01, TPOX, CSF1PO, D5S818, D13S317, D7S82) were analyzed using standard F-statistics and population structure analysis (program STRUCTURE). The total coefficient of genetic differentiation of Croatian subpopulations calculated by the FST method is higher at the level of the Croatian population (0.005) than at the level of Southeast Europe (0.002). In the population of Croatia, the subpopulation of the island of Vis shows the most pronounced separation, and in the population of Southeast Europe the population of Albanians from Kosovo, then the populations of Croatia, Bosnia and Herzegovina and Hungary. The established higher structure of Croatian subpopulations in relation to the populations of Southeast Europe suggests the existence of a certain degree of genetic isolation, most likely due to the influence of endogamy within rural island populations. The total genetic differentiation coefficient of Croatian subpopulations calculated by the FST method is higher at the level of the Croatian population (0.005) than at the level of Southeast Europe (0.002). The established higher structure of Croatian subpopulations in relation to Southeast Europe suggest the existence of a certain degree of genetic isolation, most likely due to the influence of endogamy within rural island populations.

Key words: STRs, genetic sub-structuring, Croatian island populations, Southeast Europe

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Published: June 21st, 2022;

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