Fine dissection of human mitochondrial DNA haplogroup HV lineages reveals paleolithic signatures from European Glacial refugia

Sara De Fanti, Chiara Barbieri, Stefania Sarno, Federica Sevini, Dario Vianello, Erika Tamm, Ene Metspalu, Mannis Van Oven, Alexander Hübner, Marco Sazzini, Claudio Franceschi, Davide Pettener, Donata Luiselli

Research output: Contribution to journalArticle

12 Citations (Scopus)

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.

Original languageEnglish
Article numbere0144391
JournalPLoS One
Volume10
Issue number12
DOIs
Publication statusPublished - Dec 1 2015

Fingerprint

Dissection
refuge habitats
Mitochondrial DNA
mitochondrial DNA
topology
Italy
Topology
Population
West Asia
Middle East
Eurasia
Ports and harbors
human population
Refugium
rooting
Genes
Genome
genome

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

De Fanti, S., Barbieri, C., Sarno, S., Sevini, F., Vianello, D., Tamm, E., ... Luiselli, D. (2015). Fine dissection of human mitochondrial DNA haplogroup HV lineages reveals paleolithic signatures from European Glacial refugia. PLoS One, 10(12), [e0144391]. https://doi.org/10.1371/journal.pone.0144391

Fine dissection of human mitochondrial DNA haplogroup HV lineages reveals paleolithic signatures from European Glacial refugia. / De Fanti, Sara; Barbieri, Chiara; Sarno, Stefania; Sevini, Federica; Vianello, Dario; Tamm, Erika; Metspalu, Ene; Van Oven, Mannis; Hübner, Alexander; Sazzini, Marco; Franceschi, Claudio; Pettener, Davide; Luiselli, Donata.

In: PLoS One, Vol. 10, No. 12, e0144391, 01.12.2015.

Research output: Contribution to journalArticle

De Fanti, S, Barbieri, C, Sarno, S, Sevini, F, Vianello, D, Tamm, E, Metspalu, E, Van Oven, M, Hübner, A, Sazzini, M, Franceschi, C, Pettener, D & Luiselli, D 2015, 'Fine dissection of human mitochondrial DNA haplogroup HV lineages reveals paleolithic signatures from European Glacial refugia', PLoS One, vol. 10, no. 12, e0144391. https://doi.org/10.1371/journal.pone.0144391
De Fanti, Sara ; Barbieri, Chiara ; Sarno, Stefania ; Sevini, Federica ; Vianello, Dario ; Tamm, Erika ; Metspalu, Ene ; Van Oven, Mannis ; Hübner, Alexander ; Sazzini, Marco ; Franceschi, Claudio ; Pettener, Davide ; Luiselli, Donata. / Fine dissection of human mitochondrial DNA haplogroup HV lineages reveals paleolithic signatures from European Glacial refugia. In: PLoS One. 2015 ; Vol. 10, No. 12.
@article{6fdc45bd143247aa9e88629ecf030fd8,
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.",
author = "{De Fanti}, Sara and Chiara Barbieri and Stefania Sarno and Federica Sevini and Dario Vianello and Erika Tamm and Ene Metspalu and {Van Oven}, Mannis and Alexander H{\"u}bner and Marco Sazzini and Claudio Franceschi and Davide Pettener and Donata Luiselli",
year = "2015",
month = "12",
day = "1",
doi = "10.1371/journal.pone.0144391",
language = "English",
volume = "10",
journal = "PLoS One",
issn = "1932-6203",
publisher = "Public Library of Science",
number = "12",

}

TY - JOUR

T1 - Fine dissection of human mitochondrial DNA haplogroup HV lineages reveals paleolithic signatures from European Glacial refugia

AU - De Fanti, Sara

AU - Barbieri, Chiara

AU - Sarno, Stefania

AU - Sevini, Federica

AU - Vianello, Dario

AU - Tamm, Erika

AU - Metspalu, Ene

AU - Van Oven, Mannis

AU - Hübner, Alexander

AU - Sazzini, Marco

AU - Franceschi, Claudio

AU - Pettener, Davide

AU - Luiselli, Donata

PY - 2015/12/1

Y1 - 2015/12/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84955480667&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84955480667&partnerID=8YFLogxK

U2 - 10.1371/journal.pone.0144391

DO - 10.1371/journal.pone.0144391

M3 - Article

VL - 10

JO - PLoS One

JF - PLoS One

SN - 1932-6203

IS - 12

M1 - e0144391

ER -