Sub-populations within the major European and African derived haplogroups R1b3 and E3a are differentiated by previously phylogenetically undefined Y-SNPs

Biomolecular Sciences, Graduate Program in Chemistry, University of Central Florida, Orlando 32816-2366, USA.
Human Mutation (Impact Factor: 5.14). 01/2007; 28(1):97. DOI: 10.1002/humu.9469
Source: PubMed


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.

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    • "obling and Tyler - Smith , 2003 ) , which is also distributed throughout West Asia , Central Asia and South Asia ( Chiaroni et al . , 2009 ) . Other studies have found that most African - Americans and European - Americans in the United States belong to one of the two main sub - haplogroups , which are E1b1a ( 58 – 62% ) and R1b ( 47 – 58 . 3% ) ( Sims et al . , 2007 ; Hammer et al . , 2006 ; Vallone and Butler , 2004 ) . The results from the Providencia and San Andrés paternal Y - STR lineages indicate a similar phenomenon of preserving their African and European ancestry , which is derived from the colonization and slavery processes that took place from 1730 to 1853 . This period also encompassed "
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