Статья

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

Andreas KellerDepartment of Human Genetics, Saarland University, 66421 Homburg, Saar, GermanyAngela GraefenInstitute for Mummies and the Iceman, EURAC research, Bolzano, 39100, ItalyMarkus BallDivision of Molecular Genetics, Institute of Human Genetics, University of Tuebingen, Tuebingen, 72074, GermanyMark MatzasFebit biomed GmbH, Heidelberg, 69120, GermanyValesca BoisguérinFebit biomed GmbH, Heidelberg, 69120, GermanyFrank MaixnerInstitute for Mummies and the Iceman, EURAC research, Bolzano, 39100, ItalyPetra LeidingerDepartment of Human Genetics, Saarland University, Homburg, 66421, Saar, GermanyChristina BackesDepartment of Human Genetics, Saarland University, Homburg, 66421, Saar, GermanyRabab KhairatDivision of Molecular Genetics, Institute of Human Genetics, University of Tuebingen, Tuebingen, 72074, GermanyMichael FörsterInstitute of Clinical Molecular Biology, Christian-Albrechts-University Kiel, Kiel, GermanyBjörn StadeInstitute of Clinical Molecular Biology, Christian-Albrechts-University Kiel, Kiel, GermanyAndré FrankeInstitute of Clinical Molecular Biology, Christian-Albrechts-University Kiel, Kiel, GermanyJens MayerDepartment of Human Genetics, Saarland University, Homburg, 66421, Saar, GermanyJessica SpanglerStephen McLaughlinMinita ShahClarence LeeTimothy T. HarkinsAlexander SartoriAndrés Moreno‐EstradaDepartment of Genetics, Stanford University School of Medicine, Stanford, 94305, California, USABrenna M. HennDepartment of Genetics, Stanford University School of Medicine, Stanford, 94305, California, USAMartin SikoraDepartment of Genetics, Stanford University School of Medicine, Stanford, 94305, California, USAOrnella SeminoDipartimento di Genetica e Microbiologia, Università di Pavia, Via Ferrata, 1 27100, Pavia, ItalyJacques ChiaroniUnité Mixte de Recherche 6578, Centre National de la RechercheScientifique, and EtablissementFrançais du Sang, Biocultural Anthropology, Medical Faculty, Université de la Méditerranée, Marseille, 13916, FranceSiiri RootsiDepartment of Evolutionary Biology, University of Tartu and Estonian Biocentre, 23 Riia Street, Tartu, 510101, EstoniaNatalie M. MyresVicente M. CabreraDepartamento de Genética, Facultad de Biología, Universidad de La Laguna, Tenerife, 38271, SpainPeter A. UnderhillDepartment of Genetics, Stanford University School of Medicine, Stanford, 94305, California, USACarlos D. BustamanteDepartment of Genetics, Stanford University School of Medicine, Stanford, 94305, California, USAEduard Egarter ViglDepartment of Pathological Anatomy and Histology, General Hospital Bolzano, Bolzano, 39100, ItalyMarco SamadelliInstitute for Mummies and the Iceman, EURAC research, Bolzano, 39100, ItalyGiovanna CipolliniInstitute for Mummies and the Iceman, EURAC research, Bolzano, 39100, ItalyJan HaasDepartment of Internal Medicine III, University of Heidelberg, Heidelberg, 69120, GermanyHugo A. KatusDepartment of Internal Medicine III, University of Heidelberg, Heidelberg, 69120, GermanyBrian D. O’ConnorNimbus Informatics LLC, 104R NC Hwy 54 West, Suite 252, Carrboro, 27510, North Carolina, USAMarc CarlsonDepartment of Computational Biology, Fred Hutchinson Cancer Research Center, Seattle, 98109, Washington, USABenjamin MederDepartment of Internal Medicine III, University of Heidelberg, Heidelberg, 69120, GermanyNikolaus BlinDepartment of Genetics, Wroclaw Medical University, Wroclaw, 50-368, PolandEckart MeeseDepartment of Human Genetics, Saarland University, Homburg, 66421, Saar, GermanyCarsten M. PuschDivision of Molecular Genetics, Institute of Human Genetics, University of Tuebingen, Tuebingen, 72074, GermanyAlbert ZinkInstitute for Mummies and the Iceman, EURAC research, Bolzano, 39100, Italy

2012en

ABI

Аннотация

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. The Tyrolean Iceman is 5,300 years old and his mitochondrial genome has been previously sequenced. This study reports the full genome sequence of the Iceman and reveals that he probably had brown eyes, was at risk for coronary disease and may have been infected with the pathogen Lyme borreliosis.

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Идентификаторы

DOI: 10.1038/ncomms1701

Цитирования и источники

Цитирований: 2Использованных источников: 0

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