A recent genetic link between Sami and the Volga-Ural region….pdfVIP

European Journal of Human Genetics (2007) 15, 115–120 2007 Nature Publishing Group All rights reserved 1018-4813/07 $30.00 /ejhg ARTICLE A recent genetic link between Sami and the Volga-Ural region of Russia Max Ingman1,2 and Ulf Gyllensten*,1 1Department of Genetics and Pathology, Rudbeck Laboratory, University of Uppsala, Uppsala, Sweden; 2Centre for Integrative Genomics, University of Lausanne, Lausanne, Switzerland The genetic origin of the Sami is enigmatic and contributions from Continental Europe, Eastern Europe and Asia have been proposed. To address the evolutionary history of northern and southern Swedish Sami, we have studied their mtDNA haplogroup frequencies and complete mtDNA genome sequences. While the majority of mtDNA diversity in the northern Swedish, Norwegian and Finnish Sami is accounted for by haplogroups V and U5b1b1, the southern Swedish Sami have other haplogroups and a frequency distribution similar to that of the Continental European population. Stratification of the southern Sami on the basis of occupation indicates that this is the result of recent admixture with the Swedish population. The divergence time for the Sami haplogroup V sequences is 7600 YBP (years before present), and for U5b1b1, 5500 YBP amongst Sami and 6600 YBP amongst Sami and Finns. This suggests an arrival in the region soon after the retreat of the glacial ice, either by way of Continental Europe and/or the Volga-Ural region. Haplogroup Z is found at low frequency in the Sami and Northern Asian populations but is virtually absent in Europe. Several conserved substitutions group the Sami Z lineages strongly with those from Finland and the Volga-Ural region of Russia, but distinguish them from Northeast Asian representatives. This suggest