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.

Low pass DNA sequencing of 1,200 Sardinians reconstructs European Y chromosome phylogeny

Francalacci P;Tofanelli S;
2013

Abstract

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.
Francalacci, P; Morelli, L; Angius, A; Berutti, R; Reinier, F; Atzeni, R; Pilu, R; Busonero, F; Maschio, A; Zara, I; Sanna, D; Useli, A; Urru, Mf; Marcelli, M; Cusano, R; Oppo, M; Zoledziewska, M; Pitzalis, M; Deidda, F; Porcu, E; Poddie, F; Kang, Hm; Lyons, R; Tarrier, B; Gresham, Jb; Li, B; Tofanelli, S; Alonso, S; Dei, M; Lai, S; Mulas, A; Whalen, Mb; Uzzau, S; Jones, C; Schlessinger, D; Abecasis, Gr; Sanna, S; Sidore, C; Cucca, F
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11568/220526
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