New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing. Keller, A., Graefen, A., Ball, M., Matzas, M., Boisguerin, V., Maixner, F., Leidinger, P., Backes, C., Khairat, R., Forster, M., Stade, B., Franke, A., Mayer, J., Spangler, J., McLaughlin, S., Shah, M., Lee, C., Harkins, T. T, Sartori, A., Moreno-Estrada, A., Henn, B., Sikora, M., Semino, O., Chiaroni, J., Rootsi, S., Myres, N. M, Cabrera, V. M, Underhill, P. A, Bustamante, C. D, Vigl, E. E., Samadelli, M., Cipollini, G., Haas, J., Katus, H., O'Connor, B. D, Carlson, M. R J, Meder, B., Blin, N., Meese, E., Pusch, C. M, & Zink, A. Nature communications, 3:698, February, 2012.
doi  abstract   bibtex   
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.
@Article{Keller2012,
  author          = {Keller, Andreas and Graefen, Angela and Ball, Markus and Matzas, Mark and Boisguerin, Valesca and Maixner, Frank and Leidinger, Petra and Backes, Christina and Khairat, Rabab and Forster, Michael and Stade, Björn and Franke, Andre and Mayer, Jens and Spangler, Jessica and McLaughlin, Stephen and Shah, Minita and Lee, Clarence and Harkins, Timothy T and Sartori, Alexander and Moreno-Estrada, Andres and Henn, Brenna and Sikora, Martin and Semino, Ornella and Chiaroni, Jacques and Rootsi, Siiri and Myres, Natalie M and Cabrera, Vicente M and Underhill, Peter A and Bustamante, Carlos D and Vigl, Eduard Egarter and Samadelli, Marco and Cipollini, Giovanna and Haas, Jan and Katus, Hugo and O'Connor, Brian D and Carlson, Marc R J and Meder, Benjamin and Blin, Nikolaus and Meese, Eckart and Pusch, Carsten M and Zink, Albert},
  title           = {New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing.},
  journal         = {Nature communications},
  year            = {2012},
  volume          = {3},
  pages           = {698},
  month           = feb,
  issn            = {2041-1723},
  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.},
  chemicals       = {DNA, Mitochondrial},
  citation-subset = {IM},
  completed       = {2012-08-02},
  country         = {England},
  doi             = {10.1038/ncomms1701},
  issn-linking    = {2041-1723},
  keywords        = {Base Sequence; Borrelia burgdorferi, genetics; Chromosome Mapping; DNA, Mitochondrial, genetics; Genetic Predisposition to Disease; Genome, Human; Genome, Mitochondrial; History, Ancient; Humans; Lyme Disease, history; Mitochondria, genetics; Mummies, microbiology; Paleontology; Phenotype; Sequence Analysis, DNA; Vascular Calcification},
  nlm-id          = {101528555},
  owner           = {NLM},
  pii             = {ncomms1701},
  pmid            = {22426219},
  pubmodel        = {Electronic},
  pubstatus       = {epublish},
  revised         = {2017-02-20},
}

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