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

The Tyrolean Iceman, a 5300-year-old Copper age individual, was discovered in 1991 on the Tisenjoch Pass in the Italian part of the Oetztal Alps. We sequenced the complete genome of the Iceman and showed 100% concordance between the previously reported mitochondrial genome sequence and the consensus sequence generated from our genomic data. Here we show 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. In conclusion, we firstly provide the complete genome sequence of the Tyrolean Iceman.