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Mitochondrial haplogroup U5b3: a distant echo of the Epipaleolithic in Italy and the legacy of the early Sardinians

Pala, Maria and Achilli, Alessandro and Olivieri, Anna and Hooshiar Kashani, Baharak and Perego, Ugo A. and Sanna, Daria and Metspalu, Ene and Tambets , Kristiina and Tamm, Erika and Accetturo, Matteo and Carossa, Valeria and Lancioni, Hovirag and Panara, Fausto and Zimmermann, Bettina and Huber, Gabriela and Al-Zahery, Nadia and Brisighelli, Francesca and Woodward, Scott R. and Francalacci, Paolo and Parson, Walther and Salas, Antonio and Behar, Doron M. and Villems, Richard and Semino, Ornella and Bandelt, Hans-Jürgen and Torroni, Antonio (2009) Mitochondrial haplogroup U5b3: a distant echo of the Epipaleolithic in Italy and the legacy of the early Sardinians. American Journal of Human Genetics, Vol. 84 (6), p. 814-821. eISSN 1537-6605. Article.

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DOI: 10.1016/j.ajhg.2009.05.004


There are extensive data indicating that some glacial refuge zones of southern Europe (Franco-Cantabria, Balkans, and Ukraine) were major genetic sources for the human recolonization of the continent at the beginning of the Holocene. Intriguingly, there is no genetic evidence that the refuge area located in the Italian Peninsula contributed to this process. Here we show, through phylogeographic analyses of mitochondrial DNA (mtDNA) variation performed at the highest level of molecular resolution (52 entire mitochondrial genomes), that the most likely homeland for U5b3—a haplogroup present at a very low frequency across Europe—was the Italian Peninsula. In contrast to mtDNA haplogroups that expanded from other refugia, the Holocene expansion of haplogroup U5b3 toward the North was restricted by the Alps and occurred only along the Mediterranean coasts, mainly toward nearby Provence (southern France). From there, ̃7,000–9,000 years ago, a subclade of this haplogroup moved to Sardinia, possibly as a result of the obsidian trade that linked the two regions, leaving a distinctive signature in the modern people of the island. This scenario strikingly matches the age, distribution, and postulated geographic source of a Sardinian Y chromosome haplogroup (I2a2-M26), a paradigmatic case in the European context of a founder event marking both female and male lineages.

Item Type:Article
ID Code:4312
Uncontrolled Keywords:Amino acid substitution, controlled study, haplogroup U5b3, DNA sequence, genetic variability, haplotype, mitochondrial
Subjects:Area 05 - Scienze biologiche > BIO/18 Genetica
Divisions:001 Università di Sassari > 01 Dipartimenti > Zoologia e genetica evoluzionistica
Publisher:Cell Press / Elsevier
Copyright Holders:© 2009 by The American Society of Human Genetics
Deposited On:18 Aug 2010 10:12

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