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.
Highlights
The male specific portion of the Y chromosome (MSY) is the largest haplotypic block in the human genome
In the MSY phylogeny reported by Karafet et al [14], 80 mutations belong to the deepest portion of the tree, defining a total of 34 distinct African-specific haplogroups/ paragroups
Phylogenetic Mapping Most of the mutations here analyzed belong to the African portion of the MSY phylogeny, which is comprised of haplogroups A1b, A1a, A2, A3 and B [16]
Summary
The male specific portion of the Y chromosome (MSY) is the largest haplotypic block in the human genome. The MSY tree has been largely used for the study of the human evolutionary history [1,2], and is currently becoming an increasingly important resource in forensic [3,4] and sexchromosome evolution studies [5,6,7,8,9,10,11,12,13]. In the MSY phylogeny reported by Karafet et al [14], 80 mutations belong to the deepest portion of the tree (haplogroups A1a, A1b, A2, A3 and B), defining a total of 34 distinct African-specific haplogroups/ paragroups. The estimated coalescence age and deep branching pattern of the revised MSY tree appear to be more similar to those of the mtDNA phylogeny [17,18] than previously reported [1]
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