Ötzi's 5,300 year-old genome revealed

Ötzi perfectly preservedAn international team, including researchers from Saar, Tuebingen, and Heidelberg in Germany, has cracked down the genome of the famous iceman of Tyrol, more commonly known as Ötzi. Their research represents the first ever genome sequenced from a mummy, and their results reveal some new information about Ötzi's health, and even traces down some of his living relatives.

The analysis of the iceman's genome revealed that this 5,300 year-old human had brown eyes, not blue as previously thought, was blood group O, and provide some new information on some of his ailments. The article is published this week in the journal Nature Communications.

Albert Zink, head of the Institute for Mummies and the Iceman in Bolzano, Italy, who led the international team of researchers, said that the new analyses revealed that Ötzi was lactose intolerant, which serves as a window into the past:
"The lactose intolerance was predominant in previous time and started to change with the domestication of animals. In Ötzi's time probably the major part of the population was still intolerant and it took at least some hundred to a few thousand years to change, so that lactose tolerance became predominant. It is therefore important to investigate this marker to understand how and when it changed."

The team of researchers also detected a set of mutations that may have made Ötzi 40% more likely to develop coronary heart disease, "which is very interesting as it is thought to be a modern, so-called civilization disease", as Albert Zink explains. But with Ötzi we now know that these mutations are at least 5000 years old. And there is more, one surprising finding was the detection of traces of DNA from Lyme's disease pathogen Borrelia burgdorferi, which suggest Ötzi may have carried this infection, and would make it the oldest evidence of Lyme disease.

Researchers extract DNA samples from ÖtziAlso known as the Tyrolean Iceman, his remains were found on the Italian part of the Ötztal Alps, in 1991. Since then researchers have discovered that Ötzi had tooth cavities, hardened arteries and bore tattoos. In 2008 Ötzi's mitochondrial genome was revealed, and from this researchers thought that he belonged to a population of men that no longer existed. However, the new genome data analyzed here, which represents 96% of this man's nuclear genome, suggests that he may have some living relatives, with whom he shares a signature DNA sequence or haplogroup.

"The Iceman belongs to haplogroup G. This haplogroup originate in the Near East and was introduced into Europe during the Neolithic. Today, it is very rare in Europe, except in isolated areas such as the islands of Corsica and Sardinia. In other places this haplogroup was most probably replaced by other populations. We will need more data for South Tyrol to better understand the current situation in Northern Italy".

Future plans include more analyses on the genome, as Albert Zink tells The Munich Times, as well as other issues such as "analysis of his stomach and the stomach content. Additionally we are planning to analyze proteins, lipids, etc."

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