Science 

Ötzi the Iceman’s DNA Reveals Surprising Ancestry and Appearance

Iceman's DNA

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In 2012, a remarkable discovery sent shockwaves through the world of archaeology and genetics. Scientists successfully sequenced the DNA of Ötzi the Iceman, a mummy found frozen in a glacier on the Austria-Italy border for over 5,300 years. This extraordinary revelation provided invaluable insights into Ötzi’s ancestry and appearance, challenging previously held beliefs about his origins.

Initial genetic analysis had suggested that Ötzi’s ancestors hailed from the Pontic-Caspian steppe, a vast region spanning southeastern Europe. This finding was perplexing because Ötzi’s DNA closely resembled that of people residing on the Mediterranean island of Sardinia, a considerable distance from central Europe where he was unearthed. This discrepancy left scientists puzzled.

Further investigation revealed a crucial discrepancy. Individuals with steppe ancestry did not arrive in central Europe until approximately 4,900 years ago, much later than Ötzi’s existence. Johannes Krause, a geneticist at the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany, who specializes in ancient humans and their DNA, was part of a team that undertook a comprehensive genetic analysis to solve this puzzle. Their findings, published on August 16 in Cell Genomics, unveiled a striking revelation: the previously assumed steppe ancestry in Ötzi’s genome was largely the result of contamination with modern DNA.

The revised genome of Ötzi the Iceman provided intriguing insights into his physical characteristics. Surprisingly, Ötzi had male-pattern baldness, a genetic trait that can be inherited. Additionally, he possessed a much darker complexion than previously depicted by artists. Genes associated with light skin tones did not become prevalent until 4,000 to 3,000 years ago. This transformation coincided with the shift to plant-based diets among early farmers who consumed less fish and meat than their hunter-gatherer counterparts, reducing their intake of vitamin D. Dark pigments in the skin offered protection against harmful ultraviolet rays, but they also hindered vitamin D production in areas with limited sunlight, such as Europe. Over generations, people in Europe developed lighter skin to facilitate vitamin D synthesis. As Ötzi’s DNA exemplifies, the transition to light skin took thousands of years and only occurred relatively late in human history.

Johannes Krause notes that people living in Europe between 40,000 and 8,000 years ago had skin as dark as individuals in Africa, reflecting humanity’s common African ancestry. Contrary to previous assumptions, the development of light-colored skin in Europeans happened much later than previously believed.

Remarkably, about 90 percent of Ötzi’s genetic heritage appears to be linked to Late Stone Age farmers who lived around 40,000 years ago, a significantly higher proportion than observed in other human remains from the Copper Age, Ötzi’s historical period.

In summary, the latest genetic analysis of Ötzi the Iceman has upended our understanding of his ancestry and appearance. This ancient mummy, frozen in time for millennia, continues to provide valuable insights into the complex history of human evolution in Europe.

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