title: Whole mitochondrial DNA sequencing in Alpine populations and the genetic history of the Neolithic Tyrolean Iceman.
abstract: 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.
authors.affiliation: Accademia Europea di Bolzano (EURAC-Research), Istituto per le mummie e l´Iceman, Bolzano, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Coia
authors.affiliation: Accademia Europea di Bolzano (EURAC-Research), Istituto per le mummie e l´Iceman, Bolzano, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Cipollini
authors.affiliation: Dipartimento Biologia Ambientale, Università La Sapienza, Roma, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Anagnostou
authors.affiliation: Accademia Europea di Bolzano (EURAC-Research), Istituto per le mummie e l´Iceman, Bolzano, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Maixner
authors.affiliation: Dipartimento Biologia Ambientale, Università La Sapienza, Roma, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Battaggia
authors.affiliation: Department of Zoology, University of Oxford, South Parks Road, Oxford, OX1 3PS, UK.
authors.forename: F
authors.initials: F
authors.lastname: Brisighelli
authors.affiliation: Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Gómez-Carballa
authors.affiliation: Dipartimento Biologia Ambientale, Università La Sapienza, Roma, Italy.|Istituto Italiano di Antropologia, Roma, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Destro Bisol
authors.affiliation: Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Salas
authors.affiliation: Accademia Europea di Bolzano (EURAC-Research), Istituto per le mummie e l´Iceman, Bolzano, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Zink
mesh_terms: D001317:Austria; D004272:DNA, Mitochondrial; D005828:Genetics, Population; D054629:Genome, Mitochondrial; D006239:Haplotypes; D006801:Humans; D009106:Mummies; D010802:Phylogeny; D058974:Phylogeography; D017422:Sequence Analysis, DNA
chemical_list: D004272:DNA, Mitochondrial