Otzi the Iceman’s mitochondrial DNA


The Iceman reconstruction and mummy

For anyone not familiar with the Ice mummy, he’s a copper age man from the Alps, about 5,300 years old. He’s too well documented on for me to bother with a full biography of him. But the more interesting points are in brief..

He had tattoos of dots and spirals, that are possibly related to the arthritis in his knee as a form of acupuncture. He also had the blood of several people on him and his gear, so he seems to have been in some kind of conflict, possibly a tribal raid. He had an arrow head lodged in him (probably the cause of death) and his position suggests that he may have been turned over so the arrow could be removed. This suggests he wasn’t alone when he died.

Close examination of his mitochondrial DNA showed mutations associated with low sperm mobility, so it’s possible he was infertile. The more interesting thing about his mt DNA is that it is a previously unseen variant of K1, and it’s quite possibly extinct in the modern European population. What’s that? Banging on about how mt DNA types can be lost? How out of character.


Complete Mitochondrial Genome Sequence of the Tyrolean Iceman

Luca Ermini et al.


The Tyrolean Iceman was a witness to the Neolithic–Copper Age transition in Central Europe 5350–5100 years ago, and his mummified corpse was recovered from an Alpine glacier on the Austro-Italian border in 1991 [1]. Using a mixed sequencing procedure based on PCR amplification and 454 sequencing of pooled amplification products, we have retrieved the first complete mitochondrial-genome sequence of a prehistoric European. We have then compared it with 115 related extant lineages from mitochondrial haplogroup K. We found that the Iceman belonged to a branch of mitochondrial haplogroup K1 that has not yet been identified in modern European populations.This is the oldest complete Homo sapiens mtDNA genome generated to date. The results point to the potential significance of complete-ancient-mtDNA studies in addressing questions concerning the genetic history of human populations that the phylogeography of modern lineages is unable to tackle.


6 responses to “Otzi the Iceman’s mitochondrial DNA

  1. Perhaps Otzi was of the lineage of Cain. His family tree would have ended with the flood of Noah’s day. Cain was made a fugitive but was allowed a wife when forced to leave for his murdering his brother Abel. It would be nice to know what his ‘race’ was. What people of his race looked like and the color of his skin.

  2. I have heard of a variation of this theory. What if Otzi WAS Cain? He was marked by God for the murder when he was exiled.

    • I have heard of a variation of this theory. What if Otzi WAS Cain? He was marked by God for the murder when he was exiled


  3. “Ironically, deleterious mtDNA mutations that affect only males, such as those that impair sperm function, will not be subject to natural selection because mitochondria are generally maternally inherited. Thus, such mutations may reach high frequencies affecting the viability of natural populations.”

    The original hunter gatherers in Europe would have been adapted to the Ice age climate and eating a diet very, very low in carbohydrate.

    The switch to agriculture may have significantly disadvantaged most of the European ‘low-carb’ hunter gatherer mtDNA lines. European mtDNA that is around today may well have been inherited from far less than 5% of the ancestral hunter gatherer women.

  4. The mtDNA of the Tyrolean Iceman might have still been quite common at the time. When agriculture appeared the intensity of sexual selection of men would have become an important factor.Otzi could have been having fewer children because of his weak sperm due to the accumulated mutations mentioned above. Those “that affect only males, such as those that impair sperm function” wouldn’t disadvantage women directly but a woman with such a mate would have her fitness reduce indirectly. Even if his fitness was only reduced 10% his wife’s mtDNA would not be handed down to the same extent,hence the old Euro Ice Age mtDNA could be disadvantaged. Also eating a carbohydrate based diet could have reduced a woman’s fitness directly.
    Women with mitochondrial haplogroup N9a are protected against metabolic syndrome.

    • Also eating a carbohydrate based diet could have reduced a woman’s fitness directly

      Its nice that I’m not the only person that knows that. Metabolic syndrome causes infertility in woman because it messes with the hormones that control ovulation.

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