A nomenclature system for the tree of human Y-chromosomal binary haplogroups Journal Article


Author: The Y Chromosome Consortium
Editors: Hammer, M.; Hurles, M. E.; Jobling, M. A.; Karafet, T.; King, T. E.; de Knijff, P.; Pandya, A.; Redd, A.; Santos, F. R.; Tyler-Smith, C.; Underhill, P.; Wood, E.; Thomas, M.; Cavalli-Sforza, L.; Ellis, N.; Jenkins, T.; Kidd, J.; Kidd, K.; Forster, P.; Zegura, S.; Kaplan, M.
Article Title: A nomenclature system for the tree of human Y-chromosomal binary haplogroups
Abstract: The Y chromosome contains the largest nonrecombining block in the human genome. By virtue of its many polymorphisms, it is now the most informative haplotyping system, with applications in evolutionary studies, forensics, medical genetics, and genealogical reconstruction. However, the emergence of several unrelated and nonsystematic nomenclatures for Y-chromosomal binary haplogroups is an increasing source of confusion. To resolve this issue, 245 markers were genotyped in a globally representative set of samples, 74 of which were males from the Y Chromosome Consortium cell line repository. A single most parsimonious phylogeny was constructed for the 153 binary haplogroups observed. A simple set of rules was developed to unambiguously label the different clades nested within this tree. This hierarchical nomenclature system supersedes and unifies past nomenclatures and allows the inclusion of additional mutations and haplogroups yet to be discovered.
Keywords: haplotypes; history; asia; patterns; polymorphisms; mitochondrial-dna; sequence variation; forensic analysis; human-populations; phylogeography
Journal Title: Genome Research
Volume: 12
Issue: 2
ISSN: 1088-9051
Publisher: Cold Spring Harbor Laboratory Press  
Date Published: 2002-02-01
Start Page: 339
End Page: 348
Language: English
ACCESSION: WOS:000173689600015
PROVIDER: wos
PMCID: PMC155271
PUBMED: 11827954
DOI: 10.1101/gr.217602
Notes: Article -- Source: Wos
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  1. Nathan A Ellis
    74 Ellis