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Mol Biol Evol. 2017 May 1;34(5):1230-1239. doi: 10.1093/molbev/msx082.

Mitogenome Diversity in Sardinians: A Genetic Window onto an Island's Past.

Author information

1
Dipartimento di Biologia e Biotecnologie, Università di Pavia, Pavia, Italy.
2
Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, Italy.
3
Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI.
4
Dipartimento di Scienze Biomediche, Università di Sassari, Sassari, Italy.
5
Center for Advanced Studies, Research and Development in Sardinia (CRS4), AGCT Program, Parco Scientifico e Tecnologico della Sardegna, Pula, Italy.
6
Max Planck Institute for the Science of Human History, Jena, Germany.
7
Institute for Archaeological Sciences, Archaeo- and Palaeogenetics, University of Tübingen, Tübingen, Germany.
8
Department of Biological Sciences, School of Applied Sciences, University of Huddersfield, Huddersfield, Queensgate, United Kingdom.
9
Department of Anthropology, University of South Florida, Tampa, FL.
10
Department of Archaeology, Durham University, Durham, United Kingdom.
11
School of Archaeology and Ancient History, University of Leicester, Leicester, United Kingdom.
12
Independent Contractor, Cagliari, Italy.
13
Life and Health Sciences Research Institute (ICVS), School of Health Sciences & ICVS/3B's-PT Government Associate Laboratory, University of Minho, Braga, Portugal.
14
School of Mathematics and Statistics, University of Glasgow, Glasgow, United Kingdom.
15
Laboratory of Genetics, National Institute on Aging US National Institutes of Health, Baltimore, Maryland, MD.
16
CBMA (Centre of Molecular and Environmental Biology), Department of Biology, University of Minho, Campus de Gualtar, Braga, Portugal.

Abstract

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.

KEYWORDS:

haplogroups; mitochondrial DNA phylogeny; mitochondrial genomes; origins of Europeans; prehistory of Sardinia

PMID:
28177087
PMCID:
PMC5400395
DOI:
10.1093/molbev/msx082
[Indexed for MEDLINE]
Free PMC Article

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