Karafet Tatiana M, Mendez Fernando L, Meilerman Monica B, Underhill Peter A, Zegura Stephen L, Hammer Michael F
ARL Division of Biotechnology, University of Arizona, Tucson, Arizona 85721, USA.
Genome Res. 2008 May;18(5):830-8. doi: 10.1101/gr.7172008. Epub 2008 Apr 2.
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.
人类Y染色体非重组部分上的标记物在包括进化生物学、法医学、医学遗传学和谱系重建在内的许多领域仍有应用。2002年，Y染色体联盟发布了一棵简约树，展示了基于243个二元标记的153个单倍群之间的关系，并设计了一个标准化命名系统来命名嵌套在这棵树中的谱系。在此，我们展示了一棵经过大幅修订的Y染色体树，其中包含311个不同的单倍群，包括两个新的主要单倍群（S和T），并纳入了约600个二元标记。我们描述了简约树拓扑结构的主要变化，并按照Y染色体联盟在2002年提出的规则为树内新的和重新排列的谱系命名。树拓扑结构的若干变化对人类祖先的研究具有重要意义。我们还给出了新Y染色体树中11个主要分支的与人口统计学无关的年龄估计。
