Mitochondrial Haplogroup U5b3: A Distant Echo of the Epipaleolithic in Italy and the Legacy of the Early Sardinians

Maria Pala, Alessandro Achilli, Anna Olivieri, Baharak Hooshiar Kashani, Ugo A. Perego, Daria Sanna, Ene Metspalu, Kristiina Tambets, Erika Tamm, Matteo Accetturo, Valeria Carossa, Hovirag Lancioni, Fausto Panara, Bettina Zimmermann, Gabriela Huber, Nadia Al-Zahery, Francesca Brisighelli, Scott R. Woodward, Paolo Francalacci, Walther ParsonAntonio Salas, Doron M. Behar, Richard Villems, Ornella Semino, Hans Jürgen Bandelt, Antonio Torroni

Research output: Contribution to journalArticlepeer-review

60 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)814-821
Number of pages8
JournalAmerican Journal of Human Genetics
Issue number6
Early online date4 Jun 2009
Publication statusPublished - 12 Jun 2009
Externally publishedYes


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