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Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny.


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.

SUBMITTER: Francalacci P 

PROVIDER: S-EPMC5500864 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature

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Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny.

Francalacci Paolo P   Morelli Laura L   Angius Andrea A   Angius Andrea A   Berutti Riccardo R   Reinier Frederic F   Atzeni Rossano R   Pilu Rosella R   Busonero Fabio F   Maschio Andrea A   Zara Ilenia I   Sanna Daria D   Useli Antonella A   Urru Maria Francesca MF   Marcelli Marco M   Cusano Roberto R   Oppo Manuela M   Zoledziewska Magdalena M   Pitzalis Maristella M   Deidda Francesca F   Porcu Eleonora E   Poddie Fausto F   Kang Hyun Min HM   Lyons Robert R   Tarrier Brendan B   Gresham Jennifer Bragg JB   Li Bingshan B   Tofanelli Sergio S   Alonso Santos S   Dei Mariano M   Lai Sandra S   Mulas Antonella A   Whalen Michael B MB   Uzzau Sergio S   Jones Chris C   Schlessinger David D   Abecasis Gonçalo R GR   Sanna Serena S   Sidore Carlo C   Cucca Francesco F  

Science (New York, N.Y.) 20130801 6145


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 h  ...[more]

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