Y-CHROMOSOME POLYMORPHISMS IN NATIVE-AMERICAN AND SIBERIAN POPULATIONS - IDENTIFICATION OF NATIVE-AMERICAN Y-CHROMOSOME HAPLOTYPES

We have initiated a study of ancient male migrations from Siberia to t he Americas using Y chromosome polymorphisms. The first polymorphism e xamined, a C-->T transition at nucleotide position 181 of the DYS199 l ocus, was previously reported only in Native American populations. To investigate the origin of this DYS199 polymorphism, we screened Y chro mosomes from a number of Siberian, Asian, and Native American populati ons for this and other markers. This survey detected the T allele in a ll five Native American populations studied at an average frequency of 61%, and in two of nine native Siberian populations, the Siberian Esk imo (21%) and the Chukchi (17%). This finding suggested that the DYS19 9 T allele may have originated in Beringia and was then spread through out the New World by the founding populations of the major subgroups o f modem Native Americans. We further characterized Native American Y c hromosome variation by analyzing two additional Y chromosome polymorph isms, the DYS287 Y Alu polymorphic (YAP) element insertion and a YAP-a ssociated A-->G transition at DYS271, both commonly found in Africans. We found neither African allele associated with the DYS199 T allele i n any of the Native American or native Siberian populations. However, we did find DYS287 YAP+ individuals who harbored the DYS199 C allele i n one Native American population, the Mire, and in one Asian group, th e Tibetans. A correlation of these Y chromosome alleles in Native Amer icans with these of the DYS1 locus, as detected by the p49a/p49f (p49a ,f) probes on TaqI-digested genomic DNA, revealed a complete associati on of DYS1 alleles (p49a,f haplotypes) 13, 18, 66, 67 and 69 with the DYS199 T allele, while DYS1 alleles 8 and 63 were associated with both the DYS199 C and T allele.