title: Mitochondrial haplogroup U5b3: a distant echo of the epipaleolithic in Italy and the legacy of the early Sardinians.
abstract: 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, approximately 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.
authors.affiliation: Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Pala
authors.forename: Alessandro
authors.initials: A
authors.lastname: Achilli
authors.forename: Anna
authors.initials: A
authors.lastname: Olivieri
authors.forename: Baharak
authors.initials: B
authors.lastname: Hooshiar Kashani
authors.forename: Ugo A
authors.initials: UA
authors.lastname: Perego
authors.forename: Daria
authors.initials: D
authors.lastname: Sanna
authors.forename: Ene
authors.initials: E
authors.lastname: Metspalu
authors.forename: Kristiina
authors.initials: K
authors.lastname: Tambets
authors.forename: Erika
authors.initials: E
authors.lastname: Tamm
authors.forename: Matteo
authors.initials: M
authors.lastname: Accetturo
authors.forename: Valeria
authors.initials: V
authors.lastname: Carossa
authors.forename: Hovirag
authors.initials: H
authors.lastname: Lancioni
authors.forename: Fausto
authors.initials: F
authors.lastname: Panara
authors.forename: Bettina
authors.initials: B
authors.lastname: Zimmermann
authors.forename: Gabriela
authors.initials: G
authors.lastname: Huber
authors.forename: Nadia
authors.initials: N
authors.lastname: Al-Zahery
authors.forename: Francesca
authors.initials: F
authors.lastname: Brisighelli
authors.forename: Scott R
authors.initials: SR
authors.lastname: Woodward
authors.forename: Paolo
authors.initials: P
authors.lastname: Francalacci
authors.forename: Walther
authors.initials: W
authors.lastname: Parson
authors.forename: Antonio
authors.initials: A
authors.lastname: Salas
authors.forename: Doron M
authors.initials: DM
authors.lastname: Behar
authors.forename: Richard
authors.initials: R
authors.lastname: Villems
authors.forename: Ornella
authors.initials: O
authors.lastname: Semino
authors.forename: Hans-Jürgen
authors.initials: HJ
authors.lastname: Bandelt
authors.forename: Antonio
authors.initials: A
authors.lastname: Torroni
mesh_terms: D041322:Chromosomes, Human, Y / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D019143:Evolution, Molecular; D005260:Female; D005828:Genetics, Population; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D008969:Molecular Sequence Data; D010164:Paleopathology; D010375:Pedigree
chemical_list: D004272:DNA, Mitochondrial