Wang Ke, Prüfer Kay, Krause-Kyora Ben, Childebayeva Ainash, Schuenemann Verena J, Coia Valentina, Maixner Frank, Zink Albert, Schiffels Stephan, Krause Johannes
MOE Key Laboratory of Contemporary Anthropology, Department of Anthropology and Human Genetics, School of Life Science, Fudan University, Shanghai 200438, China.
Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.
Cell Genom. 2023 Aug 16;3(9):100377. doi: 10.1016/j.xgen.2023.100377. eCollection 2023 Sep 13.
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.
蒂罗尔冰人被誉为最古老的人类冰川木乃伊之一，经校准后的直接年代测定为公元前3350年至3120年。尽管存在当今较高的DNA污染，但先前发表的低覆盖度基因组为欧洲史前史提供了新的见解。在此，我们生成了一个低污染的高覆盖度基因组（15.3倍），以进一步深入了解该个体的遗传历史和表型。与先前的研究相反，我们在冰人中未发现可检测到的与草原相关的血统。相反，在同期欧洲人群中，他保留了与安纳托利亚农民相关的最高血统，这表明他所在的阿尔卑斯人群相当孤立，与狩猎采集者血统相关人群的基因流动有限。表型分析显示，冰人的皮肤可能比当今欧洲人更黑，并且携带与男性型秃发、2型糖尿病和肥胖相关代谢综合征相关的风险等位基因。这些结果证实了对保存下来的木乃伊尸体的表型观察，比如他皮肤色素沉着高以及头上无毛。
