High-coverage genome of the Tyrolean Iceman reveals unusually high Anatolian farmer ancestry

Abstract

The Tyrolean Iceman (hereafter referred to as the Iceman), also known as “Ötzi,” is the world's oldest glacier mummy. Radiocarbon dating and stable isotope analysis have revealed that the Iceman lived during the Chalcolithic (Copper Age) in the Southern slopes of the eastern Italian Alps.1,2 His remains were found in the Italian part of the Ötztal Alps in 1991 and were directly dated to 3350–3120 calibrated BCE. In 2012, Keller et al. published the first whole-genome sequence of the Iceman.3 Comparative analyses based on autosomal data reported a close genetic affinity between the Iceman and present-day Sardinians. These findings were, however, published before genomes from a larger number of ancient western Eurasian individuals became available. Genomic data from European ancient individuals from 3000 to 4000 BCE, who we consider contemporaneous populations to the Iceman, showed that the genetic similarity between the Iceman and present-day Sardinians is due to common genetic components that were geographically widespread across Europe during the Neolithic period.4,5,6,7,8 The geographic region of the Alps, where the Iceman was discovered, remains, however, rather understudied.