Iceman Ötzi’s DNA Reveals Health Risks and Relations


Iceman Ötzi from the Tyrolean Alps

Ötzi’s DNA has finally been sequenced. An international team published the almost complete DNA of the Iceman Ötzi from the Tyrolean Alps in the journal Nature Communications.

The Iceman’s 5,300-year-old body was discovered in 1991 by hikers near the Italian-Austrian border in the Alps. It was well preserved and has become one of the most studied cadavers. Ötzi suffered from hardened arteries and tooth cavities, had tattoos, and gorged on ibex before dying from an arrow lodged in his back.

Albert Zink, head of the Institute for Mummies and the Iceman in Bolzano, Italy, is the leader of the new sequencing study.


In 2008, researchers revealed that the complete sequence of DNA taken from Ötzi’s cellular mitochondria contained mutations not present in modern-day populations. This led to speculation that Ötzi had belonged to a people that had vanished from Europe.

Ötzi had brown eyes, his blood type was O, and he was lactose intolerant. He had a genetic predisposition for heart disease and also had Lyme disease.

Ötzi’s Y chromosomes possess mutations that are now only commonly found in men from Sardinia and Corsica. His nuclear genome puts his closest present-day relatives in the same area. It’s possible that Ötzi’s kind lived across Europe, before they vanished out or interbred with other groups everywhere except on those islands.

Reference: “New insights into the Tyrolean Iceman’s origin and phenotype as inferred by whole-genome sequencing” by Andreas Keller, Angela Graefen, Markus Ball, Mark Matzas, Valesca Boisguerin, Frank Maixner, Petra Leidinger, Christina Backes, Rabab Khairat, Michael Forster, Björn Stade, Andre Franke, Jens Mayer, Jessica Spangler, Stephen McLaughlin, Minita Shah, Clarence Lee, Timothy T. Harkins, Alexander Sartori, Andres Moreno-Estrada, Brenna Henn, Martin Sikora, Ornella Semino, Jacques Chiaroni, Siiri Rootsi, Natalie M. Myres, Vicente M. Cabrera, Peter A. Underhill, Carlos D. Bustamante, Eduard Egarter Vigl, Marco Samadelli, Giovanna Cipollini, Jan Haas, Hugo Katus, Brian D. O’Connor, Marc R.J. Carlson, Benjamin Meder, Nikolaus Blin, Eckart Meese, Carsten M. Pusch and Albert Zink, 28 February 2012, Nature Communications.
DOI: 10.1038/ncomms1701

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