Francalacci, Paolo and Morelli, Laura Cornelia Clotilde and Angius, Andrea and Berutti, Riccardo and Reinier, Frederic and Atzeni, Rossano and Pilu, Rosella and Busonero, Fabio and Maschio, Andrea and Zara, Ilenia and Sanna, Daria and Useli, Antonella and Urru, Maria Francesca and Marcelli, Marco and Cusano, Roberto and Oppo, Manuela and Zoledziewska, Magdalena and Pitzalis, Maristella and Deidda, Francesca and Porcu, Eleonora and Poddie, Fausto Pier'Angelo and Min Kang, Hyun and Lyons, Robert and Tarrier, Brendan and Gresham, Jennifer Bragg and Li, Bingshan and Tofanelli, Sergio and Alonso, Santos and Dei, Mariano and Lai, Sandra and Mulas, Antonella and Whalen, Michael B. and Uzzau, Sergio and Jones, Chris and Schlessinger, David and Abecasis, Gonçalo R. and Sanna, Serena and Sidore, Carlo and Cucca, Francesco (2013) Low-Pass DNA sequencing of 1200 Sardinians reconstructs European Y-cvhromosome phylogeny. Science, Vol. 341 (6145), p. 565-569. ISSN 0036-8075. eISSN 1095-9203. Article.
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Genetic variation within the male-specific portion of the Y chromosome (MSY) can clarify the origins of contemporary populations, but previous studies were hampered by partial genetic information. Population sequencing of 1204 Sardinian males identified 11,763 MSY single-nucleotide polymorphisms, 6751 of which have not previously been observed. We constructed a MSY phylogenetic tree containing all main haplogroups found in Europe, along with many Sardinian-specific lineage clusters within each haplogroup. The tree was calibrated with archaeological data from the initial expansion of the Sardinian population ~7700 years ago. The ages of nodes highlight different genetic strata in Sardinia and reveal the presumptive timing of coalescence with other human populations. We calculate a putative age for coalescence of ~180,000 to 200,000 years ago, which is consistent with previous mitochondrial DNA–based estimates.
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