title: Molecular dissection of the Y chromosome haplogroup E-M78 (E3b1a): a posteriori evaluation of a microsatellite-network-based approach through six new biallelic markers.
abstract: 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.
authors.affiliation: Dipartimento di Genetica e Biologia Molecolare, Università La Sapienza, Rome, Italy.
authors.forename: Fulvio
authors.initials: F
authors.lastname: Cruciani
authors.forename: Roberta
authors.initials: R
authors.lastname: La Fratta
authors.forename: Antonio
authors.initials: A
authors.lastname: Torroni
authors.forename: Peter A
authors.initials: PA
authors.lastname: Underhill
authors.forename: Rosaria
authors.initials: R
authors.lastname: Scozzari
mesh_terms: D000351:Africa, Eastern; D000352:Africa, Northern; D002851:Chromatography, High Pressure Liquid; D041322:Chromosomes, Human, Y / Q000145:classification*; D004252:DNA Mutational Analysis; D005060:Europe; D019143:Evolution, Molecular; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D008877:Middle East; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide
chemical_list: D005819:Genetic Markers