New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree

Markers on the non-recombining portion of the human Y chromosome continue to have applications in many fields including evolutionary biology, forensics, medical genetics, and genealogical reconstruction. In 2002, the Y Chromosome Consortium published a single parsimony tree showing the relationships...

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Bibliographic Details
Published in:	Genome Research 2008-05, Vol.18 (5), p.830-838
Main Authors:	Karafet, Tatiana M, Mendez, Fernando L, Meilerman, Monica B, Underhill, Peter A, Zegura, Stephen L, Hammer, Michael F
Format:	Article
Language:	eng
Subjects:	Chromosomes, Human, Y - genetics Genetic Markers Haplotypes - genetics Humans Mutation Phylogeny Polymorphism, Genetic - genetics Resource
Online Access:	Get full text
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Summary:	Markers on the non-recombining portion of the human Y chromosome continue to have applications in many fields including evolutionary biology, forensics, medical genetics, and genealogical reconstruction. In 2002, the Y Chromosome Consortium published a single parsimony tree showing the relationships among 153 haplogroups based on 243 binary markers and devised a standardized nomenclature system to name lineages nested within this tree. Here we present an extensively revised Y chromosome tree containing 311 distinct haplogroups, including two new major haplogroups (S and T), and incorporating approximately 600 binary markers. We describe major changes in the topology of the parsimony tree and provide names for new and rearranged lineages within the tree following the rules presented by the Y Chromosome Consortium in 2002. Several changes in the tree topology have important implications for studies of human ancestry. We also present demography-independent age estimates for 11 of the major clades in the new Y chromosome tree.
ISSN:	1088-9051 1549-5469 1549-5477