In 2008, scientists reported the complete sequence of DNA taken from Ötzi’s cellular mitochondria. It contained mutations not found in present-day populations, and led to speculation that the iceman had belonged to a people that has vanished from Europe. To get a better picture of Ötzi’s ancestry and a look at some of his genetic traits, Zink’s team sequenced the DNA from the nuclei of cells taken from a sliver of the iceman’s pelvic bone. The sequence accounts for around 96% of Ötzi’s genome.
The data suggest that Ötzi had brown eyes and type-O blood, and was lactose intolerant. Zink’s team also discovered gene variants linked to hardened arteries, which could help to account for calcium deposits found in scans3. “He wasn’t obese, he was very active, he doesn’t have strong risk factors for developing calcification of his heart,” says Zink. “Perhaps he developed this due to a genetic predisposition.”
Story: Ewen Callaway, Nature | Photo: S. Marco/Eurac