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

Science. 2013 Aug 2;341(6145):565-9. doi: 10.1126/science.1237947.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosomes, Human, Y / classification*
  • Chromosomes, Human, Y / genetics*
  • Evolution, Molecular*
  • Haplotypes
  • Humans
  • Italy
  • Male
  • Phylogeny
  • Polymorphism, Single Nucleotide
  • White People / genetics*