Molecular dissection of the basal clades in the human Y chromosome phylogenetic tree

PLoS One. 2012;7(11):e49170. doi: 10.1371/journal.pone.0049170. Epub 2012 Nov 7.

Abstract

One hundred and forty-six previously detected mutations were more precisely positioned in the human Y chromosome phylogeny by the analysis of 51 representative Y chromosome haplogroups and the use of 59 mutations from literature. Twenty-two new mutations were also described and incorporated in the revised phylogeny. This analysis made it possible to identify new haplogroups and to resolve a deep trifurcation within haplogroup B2. Our data provide a highly resolved branching in the African-specific portion of the Y tree and support the hypothesis of an origin in the north-western quadrant of the African continent for the human MSY diversity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Y / genetics*
  • Genome, Human
  • Haplotypes / genetics*
  • Humans
  • Microsatellite Repeats / genetics
  • Mutation*
  • Phylogeny*
  • Polymorphism, Single Nucleotide

Grants and funding

This work was supported by the Italian Ministry of Education, University and Research (grant “Progetti di Ricerca di Interesse Nazionale”, n. 2009P2CNKK). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.