title: Sub-populations within the major European and African derived haplogroups R1b3 and E3a are differentiated by previously phylogenetically undefined Y-SNPs.
abstract: 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.
authors.affiliation: Biomolecular Sciences, Graduate Program in Chemistry, University of Central Florida, Orlando 32816-2366, USA.
authors.forename: Lynn M
authors.initials: LM
authors.lastname: Sims
authors.forename: Dennis
authors.initials: D
authors.lastname: Garvey
authors.forename: Jack
authors.initials: J
authors.lastname: Ballantyne
mesh_terms: D044383:Black People / Q000235:genetics*; D041322:Chromosomes, Human, Y; D004641:Emigration and Immigration; D005260:Female; D005819:Genetic Markers; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D008297:Male; D010334:Paternity; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide; D044382:Population Groups / Q000235:genetics; D044465:White People / Q000235:genetics*
chemical_list: D005819:Genetic Markers