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Sub‐populations within the major European and African derived haplogroups R1b3 and E3a are differentiated by previously phylogenetically undefined Y‐SNPs
Author(s) -
Sims Lynn M.,
Garvey Dennis,
Ballantyne Jack
Publication year - 2007
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.9469
Subject(s) - haplogroup , biology , haplotype , single nucleotide polymorphism , y chromosome , genetics , evolutionary biology , population , clade , allele , gene , genotype , phylogenetic tree , demography , sociology
Single nucleotide polymorphisms on the Y chromosome (Y‐SNPs) have been widely used in the study of human migration patterns and evolution. Potential forensic applications of Y‐SNPs include their use in predicting the ethnogeographic origin of the donor of a crime scene sample, or exclusion of suspects of sexual assaults (the evidence of which often comprises male/female mixtures and may involve multiple perpetrators), paternity testing, and identification of non‐ and half‐siblings. In this study, we used a population of 118 African‐ and 125 European‐Americans to evaluate 12 previously phylogenetically undefined Y‐SNPs for their ability to further differentiate individuals who belong to the major African (E3a)‐ and European (R1b3, I)‐derived haplogroups. Ten of these markers define seven new sub‐clades (equivalent to E3a7a, E3a8, E3a8a, E3a8a1, R1b3h, R1b3i, and R1b3i1 using the Y Chromosome Consortium nomenclature) within haplogroups E and R. Interestingly, during the course of this study we evaluated M222, a sub‐R1b3 marker rarely used, and found that this sub‐haplogroup in effect defines the Y‐STR Irish Modal Haplotype (IMH). The new bi‐allelic markers described here are expected to find application in human evolutionary studies and forensic genetics. © 2006 Wiley‐Liss, Inc.