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

Nat Commun. 2012 Feb 28:3:698. doi: 10.1038/ncomms1701.


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.

Publication types

  • Historical Article
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • 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


  • DNA, Mitochondrial