New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing

Andreas Keller, Angela Graefen, Markus Ball, Mark Matzas, Valesca Boisguerin, Frank Maixner, Petra Leidinger, Christina Backes, Rabab Khairat, Michael Forster, Björn Stade, Andre Franke, Jens Mayer, Jessica Spangler, Stephen McLaughlin, Minita Shah, Clarence Lee, Timothy T. Harkins, Alexander Sartori, Andres Moreno-Estrada, Brenna Henn, Martin Sikora, Ornella Semino, Jacques Chiaroni, Siiri Rootsi, Natalie M. Myres, Vicente M. Cabrera, Peter A. Underhill, Carlos D. Bustamante, Eduard Egarter Vigl, Marco Samadelli, Giovanna Cipollini, Jan Haas, Hugo Katus, Brian D. O'Connor, Marc R.J. Carlson, Benjamin Meder, Nikolaus Blin, Eckart Meese, Carsten M. Pusch and Albert Zink ()
Additional contact information
Andreas Keller: Saarland University
Angela Graefen: Institute for Mummies and the Iceman, EURAC research
Markus Ball: Institute of Human Genetics, University of Tuebingen
Mark Matzas: Febit biomed GmbH
Valesca Boisguerin: Febit biomed GmbH
Frank Maixner: Institute for Mummies and the Iceman, EURAC research
Petra Leidinger: Saarland University
Christina Backes: Saarland University
Rabab Khairat: Institute of Human Genetics, University of Tuebingen
Michael Forster: Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel
Björn Stade: Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel
Andre Franke: Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel
Jens Mayer: Saarland University
Jessica Spangler: Genome Sequencing Collaborations Group, Life Technologies
Stephen McLaughlin: Genome Sequencing Collaborations Group, Life Technologies
Minita Shah: Genome Sequencing Collaborations Group, Life Technologies
Clarence Lee: Genome Sequencing Collaborations Group, Life Technologies
Timothy T. Harkins: Genome Sequencing Collaborations Group, Life Technologies
Alexander Sartori: Genome Sequencing Collaborations Group, Life Technologies
Andres Moreno-Estrada: Stanford University School of Medicine
Brenna Henn: Stanford University School of Medicine
Martin Sikora: Stanford University School of Medicine
Ornella Semino: Università di Pavia, Via Ferrata
Jacques Chiaroni: Unité Mixte de Recherche 6578, Centre National de la RechercheScientifique, and EtablissementFrançais du Sang, Biocultural Anthropology, Medical Faculty, Université de la Méditerranée
Siiri Rootsi: University of Tartu and Estonian Biocentre
Natalie M. Myres: Sorenson Molecular Genealogy Foundation
Vicente M. Cabrera: Facultad de Biología, Universidad de La Laguna
Peter A. Underhill: Stanford University School of Medicine
Carlos D. Bustamante: Stanford University School of Medicine
Eduard Egarter Vigl: General Hospital Bolzano
Marco Samadelli: Institute for Mummies and the Iceman, EURAC research
Giovanna Cipollini: Institute for Mummies and the Iceman, EURAC research
Jan Haas: University of Heidelberg
Hugo Katus: University of Heidelberg
Brian D. O'Connor: The Ontario Institute for Cancer Research
Marc R.J. Carlson: Fred Hutchinson Cancer Research Center
Benjamin Meder: University of Heidelberg
Nikolaus Blin: Institute of Human Genetics, University of Tuebingen
Eckart Meese: Saarland University
Carsten M. Pusch: Institute of Human Genetics, University of Tuebingen
Albert Zink: Institute for Mummies and the Iceman, EURAC research

Nature Communications, 2012, vol. 3, issue 1, 1-9

Abstract: Abstract The Tyrolean Iceman, a 5,300-year-old Copper age individual, was discovered in 1991 on the Tisenjoch Pass in the Italian part of the Ötztal Alps. Here we report the complete genome sequence of the Iceman and show 100% concordance between the previously reported mitochondrial genome sequence and the consensus sequence generated from our genomic data. We present indications for recent common ancestry between the Iceman and present-day inhabitants of the Tyrrhenian Sea, that the Iceman probably had brown eyes, belonged to blood group O and was lactose intolerant. His genetic predisposition shows an increased risk for coronary heart disease and may have contributed to the development of previously reported vascular calcifications. Sequences corresponding to ∼60% of the genome of Borrelia burgdorferi are indicative of the earliest human case of infection with the pathogen for Lyme borreliosis.

Date: 2012
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DOI: 10.1038/ncomms1701

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