A synopsis of the entire European Y-chromosome biallelic haplotype spectrum. G. Passarino1,2, O. Semino1,3, A.S. Santachiara Benerecetti3, L.L. Cavalli Sforza1, P.A. Underhill1. 1) Genetics Department, Stanford University, Stanford, CA; 2) Cell Biology Department, University of Calabria, Rende, Italy; 3) Department of Genetics and Microbiology, University of Pavia, Pavia, Italy.
Our laboratory has identified many biallelic polymorphisms associated with the non-recombining portion (NRY) of the human Y chromosome. Seven key markers (M9, M17, M26, M35, M170, M172, M173) appear to be highly informative for fractionating and cataloging the different components of the European NRY gene pool. The allelic status of several hundred representative European samples have been determined at these markers along with others previously reported (49,af Ht 15, the 49a,f Ht 11, the 12f2 8Kb allele, YAP). The haplotype data almost completely describe the entire underlining framework of NRY genetic diverstiy in Europe. Three components appear to have been present in Europe probably since the Paleolithic era: (M173/49af Ht15 and M170 in Western Europe; M173/49af Ht 11/M17 in Eastern Europe). Another haplotype, 12f28Kb/M172, represents the contribution of the demic diffusion of Neolithic farmers coming from the Near East after the invention of agriculture. Yet another component, represented by YAP+/M35 represents influences from North Africa which could have been spread many times during the last millennia. A simple correlation is observed between geographic NRY haplotype patterns and principal component synthetic maps based upon up to 95 autosomal genes. Since Y chromosome accumulate subsequent biallelic mutations changes without erasing past events, it is now possible to place European lineages in context with well resolved NRY haplotypes associated with other areas of the world. This makes it possible to reconstruct the origins and histories of contemporary Europeans to a new level of resolution and completeness. The data suggest that simple NRY biallelic haplotypes can act as a metaphor of overall population genetic diversity.