Ötzi genome decoded

The genetic material of the ice mummy should provide information about genetic affiliation and state of health

Ice mummy "Ötzi" in the laboratory © Südtiroler Archeology Museum
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The genome of Ötzi, the mummy of a Stone Age man retrieved from the ice of the Alps 20 years ago, is now completely decoded for the first time. Because of the severely fragmented DNA after 5, 000 years, the latest technology was needed for the segregation. Now the course is set to dissolve further puzzles around the ice man in the near future. The evaluation of the data should be completed in the next year.

To create the complete Ötzi genome, experts from three institutions have contributed their expertise: Albert Zink, the director of the Institute of Mummies and the Iceman at the European Academy of Bolzano (EURAC), Carsten Pusch of the Institute of Human Genetics of the University of Tübingen and the bioinformaticians Andreas Keller from the biotechnology company febit in Heidelberg. Together, they now set a milestone in research on the more than 5, 000-year-old mummy.

Processing of fragmented DNA with the most modern technique

The bioinformatician Keller provided state-of-the-art sequencing technologies that enabled the research team to decrypt the millions of sequence data of the Ötzi genome and to do so in a very short time, something that had only been possible over decades with previous methods. "We are dealing with old DNA, which is still very fragmented on top of that. It is only because of this state-of-the-art technology, with its low error rate, that scientists have been able to decode the entire genome of Ötzi in this short period of time, "underlines Zink, who is responsible for the ice mummy.

For analysis, researchers extracted a sample of bone from the ice-mummy basin and, using the new SOLiD sequencing technology, created a DNA library containing by far the largest DNA data set ever devised by the Ice Man. Zinc and Pusch were also involved in the genetic analysis of the Egyptian Pharaoh Tutankhamun and his family, even in the Egyptian mummies, the DNA was already highly fragmented.

Results of data analysis next year

However, the most exciting part of the work is still waiting for the scientists: The huge amounts of data that are now available, must first be evaluated. They can answer many questions after their bioinformatic work-up. Are there still living descendants of Ötzi today and where do they live? Which genetic mutations can be identified between past and present populations? display

What conclusions can be drawn from the study of Ötzi's genetic material and his disease predisposition to today's hereditary diseases or other current diseases such as diabetes or cancer? How do these findings affect today's research in genetic medicine? Next year Ötzi celebrates the 20th "Birthday" of his discovery. To mark the occasion, the researchers want to present their analysis of the data and their findings one should be curious.

(European Academy of Bolzano / Bolzano, 28.07.2010 - NPO)