New insights into the Tyrolean Iceman%26apos;s origin and phenotype as inferred by whole-genome sequencing

作者：Keller Andreas; Graefen Angela; Ball Markus; Matzas Mark; Boisguerin Valesca; Maixner Frank; Leidinger Petra; Backes Christina; Khairat Rabab; Forster Michael; Stade Bjoern; Franke Andre; Mayer Jens; Spangler Jessica; McLaughlin Stephen; Shah Minita; Lee Clarence; Harkins Timothy T; Sartori Alexander; Moreno Estrada Andres; Henn Brenna; Sikora Martin; Semino Ornella; Chiaroni Jacques; Rootsi Siiri; Myres Natalie M; Cabrera Vicente M; Underhill Peter A

来源：Nature Communications, 2012, 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 Otztal 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 similar to 60% of the genome of Borrelia burgdorferi are indicative of the earliest human case of infection with the pathogen for Lyme borreliosis.

• 出版日期2012-2