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Iceman Otzi's Maternal Genetic Line Is Now Extinct

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The ice mummy Ötzi has provided much information about the Homo Sapiens way of life. Sadly, a new research from the European Academy of Bolzano/Bozen (EURAC) clarified that Ötzi's maternal genetic line is now extinct.

The Ötzi iceman lived over 5,300 years ago in the eastern Alps. In 2012, researchers conducted a DNA analysis of Ötzi's Y chromosome, which is transferred from fathers to sons. The 2012 research concluded that Ötzi's paternal line is very much alive. Ötzi's maternal genetic line still has many questions left unanswered.

EURAC researchers compared Ötzi's mitochondrial DNA, which is named K1f, with 1,077 samples taken from more populations to conclude the remaining mystery. Sadly, the study found Ötzi's maternal genetic line is now extinct.

EURAC researchers also traced the genetic origin of K1f by comparing it to the genetic data of several European Neolithic samples. They theorized that the maternal genetic line originated in the Alps within a population that failed to expand demographically.

First author and EURAC biologist Valentina Coia explained that Ötzi's mitochondrial DNA was first analyzed in 1994 but the genetic link between Ötzi's maternal line and other lines found in modern-day populations left many questions unanswered.

In 2008, other team also analyzed the Iceman's complete mitochondrial DNA and found it is no longer present in modern populations. But the study didn't clear if the absence was due to lack of sufficient samples or could it be that K1f is already extinct.

Coia explained that the 2008 samples only used 85 modern-day population samples taken from the K1 lineage, which also included Ötzi's ancestry. These did not include samples taken from the eastern Alps and just very few from Europe.

"To test the two hypotheses, we needed to compare Ötzi's mitochondrial DNA with a larger number of modern samples," said Coia whose team used 1,077 modern-day samples from the K1 lineage. Forty-two samples were taken from the populations in the eastern Alps, which is a first.

The study was published in the journal Scientific Reports on Jan. 14.

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