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Bone density and genomic analysis unfold cold adaptation mechanisms of ancient inhabitants of Tierra del Fuego

Watanabe, Mikiko, Risi, Renata, Tafuri, Mary Anne, Silvestri, Valentina, D'Andrea, Daniel, Raimondo, Domenico, Rea, Sandra, Di Vincenzo, Fabio, Profico, Antonio, Tuccinardi, Dario, Sciuto, Rosa, Basciani, Sabrina, Mariani, Stefania, Lubrano, Carla, Cinti, Saverio, Ottini, Laura, Manzi, Giorgio and Gnessi, Lucio 2021. Bone density and genomic analysis unfold cold adaptation mechanisms of ancient inhabitants of Tierra del Fuego. Scientific Reports 11 (1) , 23290. 10.1038/s41598-021-02783-1

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The Fuegians, ancient inhabitants of Tierra del Fuego, are an exemplary case of a cold-adapted population, since they were capable of living in extreme climatic conditions without any adequate clothing. However, the mechanisms of their extraordinary resistance to cold remain enigmatic. Brown adipose tissue (BAT) plays a crucial role in this kind of adaptation, besides having a protective role on the detrimental effect of low temperatures on bone structure. Skeletal remains of 12 adult Fuegians, collected in the second half of XIX century, were analyzed for bone mineral density and structure. We show that, despite the unfavorable climate, bone mineral density of Fuegians was close to that seen in modern humans living in temperate zones. Furthermore, we report significant differences between Fuegians and other cold-adapted populations in the frequency of the Homeobox protein Hox-C4 (HOXC4) rs190771160 variant, a gene involved in BAT differentiation, whose identified variant is predicted to upregulate HOXC4 expression. Greater BAT accumulation might therefore explain the Fuegians extreme cold-resistance and the protection against major cold-related damage. These results increase our understanding of how ecological challenges have been important drivers of human–environment interactions during Humankind history.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Additional Information: This article is licensed under a Creative Commons Attribution 4.0 International License
Publisher: Nature Research
ISSN: 2045-2322
Date of First Compliant Deposit: 23 February 2022
Date of Acceptance: 23 November 2021
Last Modified: 13 Apr 2022 10:49

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