Abstract
The Tyrolean ice mummy named “Iceman”, discovered in the Ötztal Alps in 1991, is known as one of the oldest natural human ice mummies, directly dated to 3484-3104 calibrated BCE. Being one of the first ancient humans whose complete genome had been sequenced, initial genetic analyses of this individual suffered from low genomic coverage and traces of modern-DNA contamination and as a consequence only a limited set of analyses were carried out. To genetically investigate this individual in more detail, we have generated a new complete genome sequence at high genomic coverage (15.3x). We reveal insights into the genetic ancestry of this individual. In particular, we show that, contrary to analyses of the previous genome, no detectable Late Neolithic ‘Steppe ancestry” is present in this individual, and that the Iceman has the highest Anatolian farmer ancestry among contemporaneous ancient European individuals in the fourth millennium BCE, suggesting that he may derive from a rather isolated Alpine population with limited contact to neighbouring hunter gatherers. Phenotypic analysis of the newly generated genome reveals that the Iceman had a higher polygenic score for darker skin than any present-day European populations but lighter skin than early Neolithic farmers and hunter-gatherers from Europe, and that he had risk alleles associated with male-pattern baldness, obesity, Type 2 diabetes and obesity-related metabolism disease. This confirms some of the phenotypic observations from the preserved mummified body, such as high pigmentation and could explain the absence of hair on his head.