Mitogenome Diversity in Sardinians: A Genetic Window onto an Island's Past.
Sardinians are "outliers" in the European genetic landscape and, according to paleogenomic nuclear data, the closest to early European Neolithic farmers. To learn more about their genetic ancestry, we analyzed 3,491 modern and 21 ancient mitogenomes from Sardinia. We observed that 78.4% of modern mitogenomes cluster into 89 haplogroups that most likely arose in situ. For each Sardinian-specific haplogroup (SSH), we also identified the upstream node in the phylogeny, from which non-Sardinian mitogenomes radiate. This provided minimum and maximum time estimates for the presence of each SSH on the island. In agreement with demographic evidence, almost all SSHs coalesce in the post-Nuragic, Nuragic and Neolithic-Copper Age periods. For some rare SSHs, however, we could not dismiss the possibility that they might have been on the island prior to the Neolithic, a scenario that would be in agreement with archeological evidence of a Mesolithic occupation of Sardinia.
Dipartimento di Biologia e Biotecnologie, Università di Pavia, Pavia, Italy.
Anna
A
Olivieri
Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, Italy.|Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI.|Dipartimento di Scienze Biomediche, Università di Sassari, Sassari, Italy.
Carlo
C
Sidore
Dipartimento di Biologia e Biotecnologie, Università di Pavia, Pavia, Italy.
Alessandro
A
Achilli
Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, Italy.|Dipartimento di Scienze Biomediche, Università di Sassari, Sassari, Italy.|Center for Advanced Studies, Research and Development in Sardinia (CRS4), AGCT Program, Parco Scientifico e Tecnologico della Sardegna, Pula, Italy.
Andrea
A
Angius
Max Planck Institute for the Science of Human History, Jena, Germany.|Institute for Archaeological Sciences, Archaeo- and Palaeogenetics, University of Tübingen, Tübingen, Germany.
Cosimo
C
Posth
Institute for Archaeological Sciences, Archaeo- and Palaeogenetics, University of Tübingen, Tübingen, Germany.
Anja
A
Furtwängler
Dipartimento di Biologia e Biotecnologie, Università di Pavia, Pavia, Italy.
Stefania
S
Brandini
Dipartimento di Biologia e Biotecnologie, Università di Pavia, Pavia, Italy.
Marco Rosario
MR
Capodiferro
Dipartimento di Biologia e Biotecnologie, Università di Pavia, Pavia, Italy.|Department of Biological Sciences, School of Applied Sciences, University of Huddersfield, Huddersfield, Queensgate, United Kingdom.
Francesca
F
Gandini
Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, Italy.
Magdalena
M
Zoledziewska
Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, Italy.
Maristella
M
Pitzalis
Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, Italy.|Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI.
Andrea
A
Maschio
Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, Italy.|Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI.
Fabio
F
Busonero
Department of Anthropology, University of South Florida, Tampa, FL.
Luca
L
Lai
Department of Archaeology, Durham University, Durham, United Kingdom.
Robin
R
Skeates
School of Archaeology and Ancient History, University of Leicester, Leicester, United Kingdom.
Maria Giuseppina
MG
Gradoli
Independent Contractor, Cagliari, Italy.
Jessica
J
Beckett
Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, Italy.
Michele
M
Marongiu
Dipartimento di Scienze Biomediche, Università di Sassari, Sassari, Italy.
Vittorio
V
Mazzarello
Dipartimento di Scienze Biomediche, Università di Sassari, Sassari, Italy.
Patrizia
P
Marongiu
Dipartimento di Scienze Biomediche, Università di Sassari, Sassari, Italy.
Salvatore
S
Rubino
Life and Health Sciences Research Institute (ICVS), School of Health Sciences & ICVS/3B's-PT Government Associate Laboratory, University of Minho, Braga, Portugal.
Teresa
T
Rito
School of Mathematics and Statistics, University of Glasgow, Glasgow, United Kingdom.
Vincent
V
Macaulay
Dipartimento di Biologia e Biotecnologie, Università di Pavia, Pavia, Italy.
Ornella
O
Semino
Department of Biological Sciences, School of Applied Sciences, University of Huddersfield, Huddersfield, Queensgate, United Kingdom.
Maria
M
Pala
Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI.
Gonçalo R
GR
Abecasis
Laboratory of Genetics, National Institute on Aging US National Institutes of Health, Baltimore, Maryland, MD.
David
D
Schlessinger
CBMA (Centre of Molecular and Environmental Biology), Department of Biology, University of Minho, Campus de Gualtar, Braga, Portugal.
Eduardo
E
Conde-Sousa
CBMA (Centre of Molecular and Environmental Biology), Department of Biology, University of Minho, Campus de Gualtar, Braga, Portugal.
Pedro
P
Soares
Department of Biological Sciences, School of Applied Sciences, University of Huddersfield, Huddersfield, Queensgate, United Kingdom.
Martin B
MB
Richards
Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, Italy.|Dipartimento di Scienze Biomediche, Università di Sassari, Sassari, Italy.
Francesco
F
Cucca
Dipartimento di Biologia e Biotecnologie, Università di Pavia, Pavia, Italy.
Antonio
A
Torroni
D000072441:DNA, Ancient / Q000032:analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D003710:Demography; D005006:Ethnicity / Q000235:genetics; D019143:Evolution, Molecular; D014644:Genetic Variation / Q000235:genetics; D005828:Genetics, Population / Q000379:methods; D054629:Genome, Mitochondrial / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D062312:Islands; D007558:Italy / Q000208:ethnology; D010802:Phylogeny; D017422:Sequence Analysis, DNA / Q000379:methods; D044465:White People / Q000235:genetics
D000072441:DNA, Ancient; D004272:DNA, Mitochondrial
haplogroups; mitochondrial DNA phylogeny; mitochondrial genomes; origins of Europeans; prehistory of Sardinia