Sequencing success for Iceman

Matt Bradley

A 5,300-year-old corpse, affectionately known as Ötzi, has had his DNA sequenced by researchers at the Italian Institute for Mummies and the Iceman of Bolzano.

The research clues about his appearance, reveal that, despite the vast temporal gulf between Ötzi and ourselves, we share some of the same health problems.

Discovered by hikers in the Italian Alps in 1991, Ötzi’s frozen corpse has been the subject of extensive research for over 20 years, as well as much speculation about the suspicious circumstances of his death after being shot with an arrow. Much is already known about Ötzi, including the fact that he had tooth cavities and a number of tattoos, but genetic research is now bringing to light a much more detailed picture of the Copper Age man’s life.

Previous research in 2008, relying on DNA sequenced from Ötzi’s mitochondrial cells, had already hinted at some of his origins, but the new study, published in Nature Communications, has been able to account for 96% of Ötzi’s genome. A team led by Professor Albert Zink extracted DNA from the nuclei of a piece of pelvic bone, and was able to use next-generation genome sequencing to build up a picture of what Ötzi would have been like.

Among the things the team were able to ascertain were that Ötzi had brown eyes, type O blood and an infection from Lyme disease bacterium, making him the first documented case of the condition.

His ancestors were probably from the Middle East, migrating slowly into Europe as agriculture spread. He was lactose intolerant, probably due to the relative novelty of livestock rearing, and that milk was unlikely to be on the menu. Researchers also found that Ötzi was predisposed to heart disease, which might explain calcium deposits found around his heart during previous research.

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