RT Journal Article T1 Whole mitochondrial DNA sequencing in Alpine populations and the genetic history of the Neolithic Tyrolean Iceman A1 Coia, V. A1 Cipollini, G. A1 Anagnostou, P. A1 Maixner, F. A1 Battaggia, C. A1 Brisighelli, Francesca A1 Gómez Carballa, Alberto A1 Destro Bisol, G. A1 Salas Ellacuriaga, Antonio A1 Zink, A. AB The Tyrolean Iceman is an extraordinarily well-preserved natural mummy that lived south of the Alpine ridge ~5,200 years before present (ybp), during the Copper Age. Despite studies that have investigated his genetic profile, the relation of the Iceman´s maternal lineage with present-day mitochondrial variation remains elusive. Studies of the Iceman have shown that his mitochondrial DNA (mtDNA) belongs to a novel lineage of haplogroup K1 (K1f) not found in extant populations. We analyzed the complete mtDNA sequences of 42 haplogroup K bearing individuals from populations of the Eastern Italian Alps – putatively in genetic continuity with the Tyrolean Iceman—and compared his mitogenome with a large dataset of worldwide K1 sequences. Our results allow a re-definition of the K1 phylogeny and indicate that the K1f haplogroup is absent or rare in present-day populations. We suggest that mtDNA Iceman´s lineage could have disappeared during demographic events starting in Europe from ~5,000 ybp. Based on the comparison of our results with published data, we propose a scenario that could explain the apparent contrast between the phylogeographic features of maternal and paternal lineages of the Tyrolean Iceman within the context of the demographic dynamics happening in Europe from 8,000 ybp. PB Nature Publishing Group YR 2016 FD 2016 LK http://hdl.handle.net/10347/22674 UL http://hdl.handle.net/10347/22674 LA eng NO Coia, V., Cipollini, G., Anagnostou, P. et al. Whole mitochondrial DNA sequencing in Alpine populations and the genetic history of the Neolithic Tyrolean Iceman. Sci Rep 6, 18932 (2016). https://doi.org/10.1038/srep18932 NO This study was financed by the Provincia Autonoma di Bolzano – Alto Adige, Ripartizione Diritto allo studio, università e ricerca scientifica, funds to VC DS Minerva RD 4 may 2026