title: Fine Dissection of Human Mitochondrial DNA Haplogroup HV Lineages Reveals Paleolithic Signatures from European Glacial Refugia.
abstract: Genetic signatures from the Paleolithic inhabitants of Eurasia can be traced from the early divergent mitochondrial DNA lineages still present in contemporary human populations. Previous studies already suggested a pre-Neolithic diffusion of mitochondrial haplogroup HV*(xH,V) lineages, a relatively rare class of mtDNA types that includes parallel branches mainly distributed across Europe and West Asia with a certain degree of structure. Up till now, variation within haplogroup HV was addressed mainly by analyzing sequence data from the mtDNA control region, except for specific sub-branches, such as HV4 or the widely distributed haplogroups H and V. In this study, we present a revised HV topology based on full mtDNA genome data, and we include a comprehensive dataset consisting of 316 complete mtDNA sequences including 60 new samples from the Italian peninsula, a previously underrepresented geographic area. We highlight points of instability in the particular topology of this haplogroup, reconstructed with BEAST-generated trees and networks. We also confirm a major lineage expansion that probably followed the Late Glacial Maximum and preceded Neolithic population movements. We finally observe that Italy harbors a reservoir of mtDNA diversity, with deep-rooting HV lineages often related to sequences present in the Caucasus and the Middle East. The resulting hypothesis of a glacial refugium in Southern Italy has implications for the understanding of late Paleolithic population movements and is discussed within the archaeological cultural shifts occurred over the entire continent.
authors.affiliation: Department of Biological, Geological and Environmental Sciences, University of Bologna, Bologna, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: De Fanti
authors.affiliation: Department of Biological, Geological and Environmental Sciences, University of Bologna, Bologna, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Barbieri
authors.affiliation: Department of Biological, Geological and Environmental Sciences, University of Bologna, Bologna, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Sarno
authors.affiliation: Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.|C.I.G. Interdepartmental Centre L. Galvani for Integrated Studies on Bioinformatics, Biophysics and Biocomplexity, University of Bologna, Bologna, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Sevini
authors.affiliation: Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.|C.I.G. Interdepartmental Centre L. Galvani for Integrated Studies on Bioinformatics, Biophysics and Biocomplexity, University of Bologna, Bologna, Italy.
authors.forename: Dario
authors.initials: D
authors.lastname: Vianello
authors.affiliation: Estonian Biocentre, Evolutionary Biology group, Tartu, Estonia.|Department of Evolutionary Biology, University of Tartu, Tartu, Estonia.
authors.forename: Erika
authors.initials: E
authors.lastname: Tamm
authors.affiliation: Estonian Biocentre, Evolutionary Biology group, Tartu, Estonia.|Department of Evolutionary Biology, University of Tartu, Tartu, Estonia.
authors.forename: Ene
authors.initials: E
authors.lastname: Metspalu
authors.affiliation: Estonian Biocentre, Evolutionary Biology group, Tartu, Estonia.|Department of Forensic Molecular Biology, Erasmus MC - University Medical Center Rotterdam, Rotterdam, The Netherlands.
authors.forename: Mannis
authors.initials: M
authors.lastname: van Oven
authors.affiliation: Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.
authors.forename: Alexander
authors.initials: A
authors.lastname: Hübner
authors.affiliation: Department of Biological, Geological and Environmental Sciences, University of Bologna, Bologna, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Sazzini
authors.affiliation: Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.|C.I.G. Interdepartmental Centre L. Galvani for Integrated Studies on Bioinformatics, Biophysics and Biocomplexity, University of Bologna, Bologna, Italy.|IRCCS, Institute of Neurological Sciences of Bologna, Ospedale Bellaria, Bologna, Italy.|CNR, Institute of Organic Synthesis and Photoreactivity (ISOF), Bologna, Italy.
authors.forename: Claudio
authors.initials: C
authors.lastname: Franceschi
authors.affiliation: Department of Biological, Geological and Environmental Sciences, University of Bologna, Bologna, Italy.
authors.forename: Davide
authors.initials: D
authors.lastname: Pettener
authors.affiliation: Department of Biological, Geological and Environmental Sciences, University of Bologna, Bologna, Italy.
authors.forename: Donata
authors.initials: D
authors.lastname: Luiselli
mesh_terms: D019070:Cell Lineage / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D005060:Europe; D014644:Genetic Variation / Q000235:genetics; D005828:Genetics, Population; D005843:Geography; D006239:Haplotypes; D006801:Humans; D008928:Mitochondria / Q000235:genetics*; D008969:Molecular Sequence Data; D058974:Phylogeography; D044465:White People / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial