Stephan Schiffels

Population Genetics – Computational Methods - Human History

Wang et al. 2023

High-coverage genome of the Tyrolean Iceman reveals unusually high Anatolian farmer ancestry. Cell Genomics. Published August 16, 2023.

Authors: Ke Wang, Kay Prüfer, Ben Krause-Kyora, Ainash Childebayeva, Verena J Schuenemann, Valentina Coia, Frank Maixner, Albert Zink, Stephan Schiffels and Johannes Krause

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Abstract: The Tyrolean Iceman is known as one of the oldest human glacier mummies, directly dated to 3350–3120 calibrated BCE. A previously published low-coverage genome provided novel insights into European prehistory, despite high present-day DNA contamination. Here, we generate a high-coverage genome with low contamination (15.3×) to gain further insights into the genetic history and phenotype of this individual. Contrary to previous studies, we found no detectable Steppe-related ancestry in the Iceman. Instead, he retained the highest Anatolian-farmer-related ancestry among contemporaneous European populations, indicating a rather isolated Alpine population with limited gene flow from hunter-gatherer-ancestry-related populations. Phenotypic analysis revealed that the Iceman likely had darker skin than present-day Europeans and carried risk alleles associated with male-pattern baldness, type 2 diabetes, and obesity-related metabolic syndrome. These results corroborate phenotypic observations of the preserved mummified body, such as high pigmentation of his skin and the absence of hair on his head.