On the Sardinian ancestry of the Tyrolean Iceman. M. Sikora1, M. Carpenter1, A. Moreno-Estrada1, B. M. Henn1, P. A. Underhill1, I. Zara2, M. Pitzalis3, C. Sidore3,4,5, F. Reinier2, M. Marcelli2, A. Angius3,4, C. Jones2, T. T. Harkins6, A. Keller7,8, A. Zink9, G. Abecasis4, S. Sanna3, F. Cucca3, C. D. Bustamante1 1) Department of Genetics, Stanford University, Stanford, CA, USA; 2) CRS4, Center for Advanced Studies, Research and Development in Sardinia, Parco Scientifico e Tecnologico della Sardegna, Pula, Italy; 3) Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, Italy; 4) Center for Statistical Genetics, Ann Arbor, University of Michigan, MI, USA; 5) UniversitÓ degli Studi di Sassari, Dip. Scienze Biomediche, Sassari, Italy; 6) Genome Sequencing Collaborations Group, Life Technologies, Beverly, MA, USA; 7) Department of Human Genetics, Saarland University, Homburg, Germany; 8) Siemens Healthcare, Erlangen, Germany; 9) Institute for Mummies and the Iceman, EURAC research, Bolzano, Italy.

   The complete genome of the 5,300 year old mummy of the Tyrolean Iceman, found in 1991 on a glacier near the border of Italy and Austria, has recently been published and yielded new insights into his origin and relationship to modern European populations. A key finding of this study has been an apparent recent common ancestry with individuals from Southern Europe, in particular Sardinians. This finding was interpreted as a genetic signature of the demic diffusion model of the expansion of Neolithic people into Europe during the spread of agriculture, although a possible recent migration of the ancestors of the Iceman to Central Europe could not be ruled out. Furthermore, the possibility that modern-day Sardinians present a remnant population of those early farmers mostly unaffected by subsequent migrations in the European mainland was not explored. In order to address these questions we analyzed the genome of the Iceman together with a large set of publicly available as well as newly generated genomic data, from both modern and ancient European individuals. We used unpublished data from whole genome sequencing of 452 Sardinian individuals, together with publicly available data from Complete Genomics and the 1000 Genomes project, to confirm that the Iceman is most closely related to contemporary Sardinians. An analysis of these data together with ancient DNA data from a recently published study on Neolithic farmers and hunter-gatherers from Sweden shows the Iceman most closely related to the farmer individual, but not the hunter-gatherers, with the Sardinians again being the contemporary Europeans with the highest affinity. Strikingly, an analysis including novel ancient DNA data from an early Iron Age individual from Bulgaria also shows the strongest affinity of this individual with modern-day Sardinians. Our results show that the Tyrolean Iceman was not a recent migrant from Sardinia, but rather that among contemporary Europeans, Sardinians represent the population most closely related to populations present in the Southern Alpine region around 5000 years ago. The genetic affinity of ancient DNA samples from distant parts of Europe with Sardinians also suggests that this genetic signature was much more widespread across Europe during the Bronze Age.

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