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PLoS One. 2015 Dec 7;10(12):e0144391. doi: 10.1371/journal.pone.0144391. eCollection 2015.

Fine Dissection of Human Mitochondrial DNA Haplogroup HV Lineages Reveals Paleolithic Signatures from European Glacial Refugia.

Author information

1
Department of Biological, Geological and Environmental Sciences, University of Bologna, Bologna, Italy.
2
Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.
3
C.I.G. Interdepartmental Centre L. Galvani for Integrated Studies on Bioinformatics, Biophysics and Biocomplexity, University of Bologna, Bologna, Italy.
4
Estonian Biocentre, Evolutionary Biology group, Tartu, Estonia.
5
Department of Evolutionary Biology, University of Tartu, Tartu, Estonia.
6
Department of Forensic Molecular Biology, Erasmus MC - University Medical Center Rotterdam, Rotterdam, The Netherlands.
7
Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.
8
IRCCS, Institute of Neurological Sciences of Bologna, Ospedale Bellaria, Bologna, Italy.
9
CNR, Institute of Organic Synthesis and Photoreactivity (ISOF), Bologna, Italy.

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.

PMID:
26640946
PMCID:
PMC4671665
DOI:
10.1371/journal.pone.0144391
[Indexed for MEDLINE]
Free PMC Article

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