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Molecular dissection of the Y chromosome haplogroup E‐M78 (E3b1a): a posteriori evaluation of a microsatellite‐network‐based approach through six new biallelic markers
Author(s) -
Cruciani Fulvio,
La Fratta Roberta,
Torroni Antonio,
Underhill Peter A.,
Scozzari Rosaria
Publication year - 2006
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9445
Subject(s) - haplogroup , biology , microsatellite , haplotype , genetics , phylogenetic tree , allele , identification (biology) , evolutionary biology , indel , y chromosome , gene , single nucleotide polymorphism , genotype , botany
The human Y chromosome haplogroup E‐M78 (E3b1a) occurs commonly and is distributed in northern and eastern Africa, western Asia, and all of Europe. Previously, only two rarely observed internal biallelic markers (UEPs) were known within the E‐M78 clade. Here we report the identification of six novel UEPs that significantly refine the phylogeny of this haplogroup. Then, we evaluate the correspondence between the newly defined sub‐haplogroups and the E‐M78 haplotype clusters previously identified by an 11‐microsatellite loci‐based network encompassing 232 chromosomes (Cruciani et al., 2004). We observed considerable correspondence between the trees generated by the two types of markers, but also noted important discrepancies between microsatellite and UEP findings. Overall, this analysis reveals that the currently visible terminal branches of the Y tree still contain a large amount of information, in terms of undiscovered biallelic markers, and that caution is needed when using the microsatellite alleles as surrogates of unique event polymorphisms. © 2006 Wiley‐Liss, Inc.