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

Karafet, Tatiana M., Mendez, Fernando L., Meilerman, Monica B., Underhill, Peter A., Zegura, Stephen L., Hammer, Michael F.·2008·Genome Research
DOI 10.1101/gr.7172008
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Abstract

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.

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Metadata

Authors
Karafet, T. M., Mendez, F. L., Meilerman, M. B., Underhill, P. A., Zegura, S. L., & Hammer, M. F.
Venue
Genome Research
Publisher
Cold Spring Harbor Laboratory
Published
2008-04-02
Volume
18
Issue
5
Pages
830-838
ISSN
1088-9051
DOI
10.1101/gr.7172008
Cited by
710
References
1
Language
en

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CoChat. (2026). Citation check: New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree. https://app.cochat.ai/papers/10.1101/gr.7172008
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Karafet, T. M., Mendez, F. L., Meilerman, M. B., Underhill, P. A., Zegura, S. L., & Hammer, M. F. (2008). New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree. Genome Research. https://doi.org/10.1101/gr.7172008