Svante Pääbo and Ötzi
The latest Nobel Prize winner in medicine, Svante Pääbo, has also crossed paths with Ötzi the Iceman.
Frank J. Rühli, head of the Institute of Evolutionary Medicine at the University of Zurich, Faculty of Medicine and president of the advisory board for the Iceman, said of the new Nobel Prize winner’s achievement, “Before the human genome had been completely deciphered, Pääbo had already succeeded in analyzing mitochondrial DNA from the bones of Egyptian mummies and Neanderthals. At the time he was the first who dared to work with such ancient DNA and is therefore rightly regarded as the founder of paleogenetics”. He went on to say, “Pääbo received bone samples from Ötzi in 1993 as part of his Neanderthal project. He managed to identify fragments of Ötzi’s mitochondrial DNA (maternal line) and determined that Ötzi’s haplogroup matched modern northern and central European clades. This knowledge was internationally significant and anything but predictable given the DNA analysis methods at the time.”
In 2006, Franco Rollo from the University of Camerino was able to determine the exact genetic group of Ötzi’s maternal line. Using mitochondrial DNA, he discovered that Ötzi belonged to a previously unknown subclade of haplogroup K1.
In 2012, the EURAC Institute for Mummy Studies in Bolzano succeeded in sequencing Ötzi’s cell nucleus DNA in cooperation with international universities. They found evidence that the modern inhabitants of Corsica and Sardinia share a common ancestor with the Iceman through his father’s line. Additionally, secrets were revealed about Ötzi’s own inherited traits for the first time: it is highly probable that the Iceman had brown eyes, type O blood, could not digest milk, and had a genetic predisposition to cardiovascular disease.
Today, 10 years later, Ötzi’s DNA is being studied with increasingly refined technologies – in cooperation with the Max Planck Institute for Evolutionary Anthropology in Leipzig, whose director is the Nobel Prize winner Svante Pääbo.
Further reading for those interested in the Iceman’s DNA:
Olivia Handt et al: Molecular genetic Analyses of the Tyrolean Ice Man. In: Science Reports, Vol. 264, 17 June (1994) 1775-1778;
Franco U. Rollo et al.: Fine characterization of the Iceman’s mtDNA Haplogroup. In: American Journal of Physical Anthropology 130:557-564 19 January (2006) 557-564; DOI 10.1002/ajpa.20384
Andreas Keller et al: New insights in the Tyrolean Iceman’s origin and phenotype as referred by whole-genome sequencing. In: Nature communications 28 Feb (2012); DOI: 10.1038/ncomms1701
Photo: Svante Pääbo (c) Duncan.Hull – own work, CC BY-SA 4.0
