Refining the Global Phylogeny of Mitochondrial N1a, X, and HV2 Haplogroups Based on Rare Mitogenomes from Croatian Isolates

Author:

Havaš Auguštin Dubravka12,Šarac Jelena12ORCID,Reidla Maere3,Tamm Erika3,Grahovac Blaženka4,Kapović Miljenko4,Novokmet Natalija2,Rudan Pavao5,Missoni Saša26,Marjanović Damir127,Korolija Marina8

Affiliation:

1. Centre for Applied Bioanthropology, Institute for Anthropological Research, Ljudevita Gaja 32, 10000 Zagreb, Croatia

2. Institute for Anthropological Research, 10000 Zagreb, Croatia

3. Institute of Genomics, University of Tartu, 50090 Tartu, Estonia

4. School of Medicine, University of Rijeka, 51000 Rijeka, Croatia

5. Croatian Academy of Sciences and Arts, 10000 Zagreb, Croatia

6. Faculty of Dental Medicine and Health, J. J. Strossmayer University, 31000 Osijek, Croatia

7. Genetics and Bioengineering Department, International Burch University, 71000 Sarajevo, Bosnia and Herzegovina

8. Forensic Science Centre “Ivan Vučetić”, Ministry of the Interior, 10000 Zagreb, Croatia

Abstract

Mitochondrial DNA (mtDNA) has been used for decades as a predominant tool in population genetics and as a valuable addition to forensic genetic research, owing to its unique maternal inheritance pattern that enables the tracing of individuals along the maternal lineage across numerous generations. The dynamic interplay between evolutionary forces, primarily genetic drift, bottlenecks, and the founder effect, can exert significant influence on genetic profiles. Consequently, the Adriatic islands have accumulated a subset of lineages that exhibits remarkable absence or rarity within other European populations. This distinctive genetic composition underscores the islands’ potential as a significant resource in phylogenetic research, with implications reaching beyond regional boundaries to contribute to a global understanding. In the initial attempt to expand the mitochondrial forensic database of the Croatian population with haplotypes from small isolated communities, we sequenced mitogenomes of rare haplogroups from different Croatian island and mainland populations using next-generation sequencing (NGS). In the next step and based on the obtained results, we refined the global phylogeny of haplogroup N1a, HV2, and X by analyzing rare haplotypes, which are absent from the current phylogenetic tree. The trees were based on 16 novel and 52 previously published samples, revealing completely novel branches in the X and HV2 haplogroups and a new European cluster in the ancestral N1a variant, previously believed to be an exclusively African–Asian haplogroup. The research emphasizes the importance of investigating geographically isolated populations and their unique characteristics within a global context.

Funder

Croatian Ministry of Science, Education and Sports

Estonian Biocentre and the Institute of Molecular and Cell Biology, University of Tartu, Tartu

Forensic Science Centre “Ivan Vučetić”, Ministry of the Interior, Zagreb, Croatia

European Union European Regional Development Fund

Estonian Basic Research Grant

Estonian Research Council

Publisher

MDPI AG

Subject

Genetics (clinical),Genetics

Reference126 articles.

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