Reanalysis of Iceman’s Genome Shows Ötzi Possessed Dark Skin, Eyes, and Exhibited Male Pattern Baldness

by Hiroshi Tanaka
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fokus keyword: Ötzi

Reanalysis of Iceman’s Genome Shows Ötzi Possessed Dark Skin, Eyes, and Exhibited Male Pattern Baldness

The Tyrolean Iceman, one of the most ancient human ice mummies, has been thoroughly investigated. Credit: South Tyrol Museum of Archaeology/Eurac/Marco Samadelli-Gregor Staschitz

A recent study on the Neolithic Tyrolean Iceman, colloquially referred to as “Ötzi,” has uncovered new information about his physical appearance and lineage. The latest findings demonstrate that Ötzi’s skin was dark, his eyes were dark, and he suffered from male pattern baldness, which contradicts earlier theories. Comprehensive genome examination further indicates substantial early Anatolian farmer heritage, pointing to his belonging to an insular Alpine community. This emphasizes the value of continued exploration, in light of the shortcomings and biases of previous research.

Numerous studies have explored the Neolithic Tyrolean Iceman over time. The current research, wherein a high-coverage genome was created to delve into his genetic background, has brought unexpected discoveries. Published in Cell Genomics on August 16, it elucidated that Ötzi’s appearance included dark skin, dark eyes, and a balding head.

“The investigation of the genome exposed characteristics such as pronounced skin pigmentation, dark eye color, and male pattern baldness, which stand in clear contradiction to earlier models depicting a fair-skinned, light-eyed, and hirsute male,” commented Johannes Krause from Germany’s Max Planck Institute for Evolutionary Anthropology. “The mummy, nonetheless, is dark and hairless.”

Krause observes that the living Iceman likely resembled the present mummy. The improved and thorough genome analysis also illustrates that Ötzi had an extraordinary high early Anatolian farmer heritage, exceeding any other known European population from the 4th millennium BCE. This unveils that Ötzi was part of a rather secluded Alpine populace with scarce gene interaction with hunter-gatherer groups.

Preservation and Prior Investigations

Regarded as the oldest and one of the most intact ice mummies, the Tyrolean Iceman has been the subject of extensive research on his genomic and ancestral structure. Previous research in 2012 provided fresh perspectives, although it suffered from contamination with contemporary human DNA.

Early conclusions hinted at a genetic link between Ötzi and modern Sardinians. However, researchers presently argue that these determinations were made before further human genomes were accessible. In the latest study, scientists, including Krause and Albert Zink of Eurac Research – Institute for Mummy Studies in Bolzano, Italy, sequenced Ötzi’s genome anew with updated sequencing methods to yield a superior-quality genome. The most astonishing aspect was how the new information altered the perception of Ötzi’s appearance.

“The most startling outcomes were the indications of alleles linked to male-pattern baldness supporting the absence of hair on the mummy and the relatively dark skin pigmentation corroborated by the mummy itself,” Zink noted.

“Our understanding has been clouded by our preconceived notions of a Stone Age European,” added Krause.

Ancestry and Migration

Krause also expressed surprise at Ötzi’s robust Anatolian lineage, as over 92% of his ancestry was early Anatolian farmer. This finding emphasizes the remarkable migratory evolution of Europeans and suggests the Alps as a genetic barrier, leading to limited genetic mingling with groups north and west of the Alps.

However, Krause warns that Ötzi might not be a typical representation of his era and location. Comprehensive future studies examining more individuals from Ötzi’s time and place are necessary to confirm this.

For additional details on this study, refer to Advanced Genetic Analysis of “Ötzi” Uncovers Unexpected Ancestral Origins and Physical Traits.

Reference: “High-coverage genome of the Tyrolean Iceman reveals unusually high Anatolian farmer ancestry” by Ke Wang, Kay Prüfer, Ben Krause-Kyora, Ainash Childebayeva, Verena J. Schuenemann, Valentina Coia, Frank Maixner, Albert Zink, Stephan Schiffels and Johannes Krause, 16 August 2023, Cell Genomics.
DOI: 10.1016/j.xgen.2023.100377

The University of Zurich provided support for this research.

Frequently Asked Questions (FAQs) about fokus keyword: Ötzi

What were the primary discoveries about Ötzi’s appearance in the recent genome analysis?

The recent genome analysis of the Neolithic Tyrolean Iceman, known as Ötzi, revealed that he had dark skin, dark eyes, and male pattern baldness. These findings are in stark contrast to previous reconstructions that depicted him as light-skinned and light-eyed.

Who conducted the latest research on Ötzi’s genome?

The latest research was conducted by scientists including Johannes Krause from the Max Planck Institute for Evolutionary Anthropology in Germany and Albert Zink of Eurac Research – Institute for Mummy Studies in Bolzano, Italy, among others.

What did the new genome analysis reveal about Ötzi’s ancestry?

The high-quality genome analysis showed that Ötzi carried over 92% early Anatolian farmer ancestry, which was higher than any other known contemporaneous population in Europe from the 4th millennium BCE. This suggests that Ötzi belonged to an isolated Alpine population with limited gene flow from hunter-gatherer groups.

How did the latest study differ from previous research on Ötzi?

The latest study used more recent sequencing technologies to produce a higher-quality genome and led to unexpected findings about Ötzi’s appearance and ancestry. Previous studies, including one from 2012, offered insights but suffered from contamination with modern human DNA.

What does the research imply about the genetic history of Europeans?

The discovery of Ötzi’s strong early Anatolian farmer lineage underscores the incredible migratory history of Europeans. It implies that the Alps acted as a genetic divide, and Ötzi’s community had limited genetic exchanges with populations located north and west of the Alps.

Was the research supported by any institutions?

Yes, the research was supported by the University of Zurich.

Where were the findings of the latest research on Ötzi published?

The research was published in the scientific journal Cell Genomics on August 16, 2023. The reference can be found with the DOI: 10.1016/j.xgen.2023.100377.

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