In 1991, a group of hikers found the mummified remains of Ötzi the Iceman emerging from a melting glacier in the Alps—likely murdered, judging by the remains of an arrowhead lodged in his shoulder. The mummy's genome was first sequenced in 2012, whereby the world learned that he likely had brown eyes, type O blood, blocked arteries, Lyme disease, and lactose intolerance. That first genetic analysis also determined that Ötzi was descended from Steppe Herders hailing from Eastern Europe who migrated to the region some 4,900 years ago.

Figure 1. Ötzi the Iceman Gets a New Look from Genetic Analysis

Ötzi the Iceman Gets a New Look from Genetic Analysis is shown in Figure 1. However, according to a recent paper published in the journal Cell Genomics, Ötzi actually has more common ancestry with early farmers who migrated from Anatolia roughly 8,000 years ago, and the earlier findings were the result of modern DNA contaminating the original sample. The authors also used the latest advanced sequencing technology to paint a more accurate picture of the Iceman’s appearance and other genetic traits. Most notably, his skin was probably much darker than previously assumed, and he was likely bald, or nearly so, when he died.

As previously reported, archaeologists have spent the last 30 years studying the wealth of information about Copper Age life that Ötzi brought with him into the present. Studies have examined his genome, skeleton, last meals, tattoos, and the microbes that lived in his gut. For instance, in 2016, scientists used DNA sequencing to identify how Ötzi's clothing was made and found that most of it was made from domesticated cattle, goats, and sheep, although his hat was made from brown bear hide and his quiver from a wild roe deer.[1]

Brown eyes, pale skin?

Ötzi’s preservation on ice presented an early opportunity to do ancient-DNA work. In 2012, researchers published a draft version of Ötzi’s genome — one of the first ancient genomes ever sequenced. The analysis suggested that Ötzi had pale skin, brown eyes (previously thought to be blue) and steppe ancestry.

This latter point was surprising because steppe ancestry — from ancient herding people hailing from eastern Europe and central Asia — is common among southern Europeans today, and research suggested that steppe people didn’t make their way into Europe for 1,000 years after Ötzi died. But researchers knew early on that Ötzi’s genome wasn’t sequenced perfectly.

Ancient-DNA technology has since improved by leaps and bounds. So, Zink and his colleagues collected shards from Ötzi’s exposed hip bone and sent it to Germany to be sequenced.

This higher-quality genome showed that Ötzi’s suspected steppe ancestry probably stemmed from modern DNA contamination. Instead, the team found an astonishing level of Anatolian-farmer ancestry. These early agriculturalists, who lived in the land sandwiched between the Mediterranean and Black seas, are thought to have migrated into Europe and mixed with local hunter-gatherers. But Ötzi didn’t carry much European hunter-gatherer DNA, hinting that his lineage was genetically isolated from other Europeans at the time.

New portrait

Skin-pigmentation markers revealed that Ötzi had much more melanin in his skin than expected, making him darker than modern Sicilians. He also carried genetic markers for male-pattern baldness. Considering his age — and the mummy’s missing hair — Zink suspects that Ötzi was balding when he died.

Previous work suggests that Anatolians were in Europe at the time that Ötzi was alive. So it’s not all that surprising that the mummy would have Anatolian ancestry, says Pontus Skoglund, an ancient-genome researcher at the Francis Crick Institute in London. But the genome is “a welcome addition to the detailed portrait that exists about his life and final hours.”

The work reveals how much remains to be learnt about this mummy, Zink says.

“I’m often asked if, after 33 years of iceman research, shouldn’t everything be known?” says Zink. “That’s not the case. I think there will always be new doors opening for research.”[2]

Reference:

1. https://arstechnica.com/science/2023/08/surprise-otzi-the-iceman-was-bald-and-had-darker-skin-than-presumed/
2. https://www.scientificamerican.com/article/oetzi-the-iceman-gets-a-new-looks-from-genetic-analysis/

Cite this article:

Gokula Nandhini K (2023), Ötzi the Iceman Gets a New Look from Genetic Analysis, AnaTechmaz, pp.564