In a recent study published in the journal Cell Genomics, scientists have uncovered new information about the appearance and ancestry of Ötzi the Iceman, a 5,300-year-old mummified individual discovered in the Ötztal Alps in 1991.

Ötzi the ice mummy. Credit: Wikimedia Commons, CC BY-SA 3.0

The latest DNA analysis, which utilized cutting-edge sequencing technologies and compared Ötzi’s genome with other ancient individuals, has illuminated surprising details about his physical traits and genetic lineage.

Ötzi, also known as the Iceman due to his frozen state of preservation, has long been a subject of scientific inquiry. Previous studies have offered glimpses into his life, including his diet, health conditions, and the circumstances of his death. However, recent research has delved deeper, revealing that Ötzi’s appearance and genetic heritage differ from previous ᴀssumptions.

Contrary to earlier artistic depictions, which portrayed Ötzi with light skin and a full head of hair, the genetic analysis indicates that he likely had dark skin, dark eyes, and male-pattern baldness. These revelations challenge the biases and preconceptions that have influenced previous reconstructions of his appearance.

This reconstruction of Ötzi. Credit: OetziTheIceman, Flickr

“From the perspective of the now more mature field, it’s nice to see people going back, producing higher-quality data and doing justice to this iconic individual,” remarked Iain Mathieson, a population geneticist at the University of Pennsylvania.

The genome analysis, conducted by researchers from insтιтutions including the Max Planck Insтιтute for Evolutionary Anthropology and the Eurac Research Insтιтute for Mummy Studies, also offers information about his ancestral roots.

The study indicates that over 90% of Ötzi’s genetic heritage comes from early Anatolian farmers who migrated from what is now Turkey around 8,000 years ago. This is the highest proportion of Anatolian ancestry ever recorded in a European of Ötzi’s era, suggesting that his community was relatively isolated in the Alpine region.

“The results about pigmentation are what we would expect given what we know about other nearby populations,” said geneticist Kendra Sirak from Harvard University, noting that Ötzi’s darker skin tone aligns with the adaptive responses to UV radiation and dietary factors prevalent among ancient Europeans.

The researchers also found genetic markers ᴀssociated with traits such as curly hair, diabetes, obesity, and male pattern baldness. While Ötzi’s external appearance might challenge conventional notions, his genetic predisposition to certain conditions demonstrates that these traits have been part of the human genetic makeup for millennia.

Albert Zink, the head of the Eurac Research Insтιтute for Mummy Studies, emphasized the significance of these findings. “It is remarkable how the reconstruction is biased by our own preconception of a Stone Age human from Europe,” he noted.

The new insights into Ötzi’s appearance and ancestry highlight the importance of continued research and advancements in DNA analysis.

More information: Wang, K. et al. (2023). High-coverage genome of the Tyrolean Iceman reveals unusually high Anatolian farmer ancestry. Cell Genomics, 100377. doi:10.1016/j.xgen.2023.100377