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

Author

Listed:
  • Andreas Keller

    (Saarland University
    Siemens Healthcare)

  • 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
    Nimbus Informatics LLC)

  • Marc R.J. Carlson

    (Fred Hutchinson Cancer Research Center)

  • Benjamin Meder

    (University of Heidelberg)

  • Nikolaus Blin

    (Institute of Human Genetics, University of Tuebingen
    Wroclaw Medical University)

  • Eckart Meese

    (Saarland University)

  • Carsten M. Pusch

    (Institute of Human Genetics, University of Tuebingen)

  • Albert Zink

    (Institute for Mummies and the Iceman, EURAC research)

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.

Suggested Citation

  • Andreas Keller & Angela Graefen & Markus Ball & Mark Matzas & Valesca Boisguerin & Frank Maixner & Petra Leidinger & Christina Backes & Rabab Khairat & Michael Forster & Björn Stade & Andre Franke & J, 2012. "New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing," Nature Communications, Nature, vol. 3(1), pages 1-9, January.
    • Handle: RePEc:nat:natcom:v:3:y:2012:i:1:d:10.1038_ncomms1701
    DOI: 10.1038/ncomms1701
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