A previously uncharacterized Factor Associated with Metabolism and Energy (FAME/C14orf105/CCDC198/1700011H14Rik) is related to evolutionary adaptation, energy balance, and kidney physiology

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Publikace nespadá pod Pedagogickou fakultu, ale pod Přírodovědeckou fakultu. Oficiální stránka publikace je na webu muni.cz.
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PETERSEN Julian ENGLMAIER Lukas ARTEMOV Artem V POVERENNAYA Irina MAHMOUD Ruba BOUDERLIQUE Thibault TESAROVA Marketa DEVIATIIAROV Ruslan SZILVASY-SZABO Anett AKKURATOV Evgeny E DAVID Pajuelo Reguera ZEBERG Hugo KAUCKA Marketa KASTRITI Maria Eleni KŘIVÁNEK Jan RADASZKIEWICZ Tomasz Witold GÖMÖRYOVÁ Kristína KNAUTH Sarah POTĚŠIL David ZDRÁHAL Zbyněk GANJI Sri Ranjani GRABOWSKI Anna BUHL Miriam E ZIKMUND Tomas KAVKOVÁ Michaela AXELSON Hakan LINDGREN David KRAMANN Rafael KUPPE Christoph ERDELYI Ferenc MATE Zoltan SZABO Gabor KOEHNE Till HARKANY Tibor FRIED Kaj KAISER Jozef BOOR Peter FEKETE Csaba ROZMAN Jan KASPAREK Petr PROCHAZKA Jan SEDLACEK Radislav BRYJA Vítězslav GUSEV Oleg ADAMEYKO Igor

Rok publikování 2023
Druh Článek v odborném periodiku
Časopis / Zdroj Nature Communications
Fakulta / Pracoviště MU

Přírodovědecká fakulta

Citace
www https://www.nature.com/articles/s41467-023-38663-7
Doi http://dx.doi.org/10.1038/s41467-023-38663-7
Klíčová slova Evolutionary genetics; Genetic models; Kidney; Protein
Popis In this study we use comparative genomics to uncover a gene with uncharacterized function (1700011H14Rik/C14orf105/CCDC198), which we hereby name FAME (Factor Associated with Metabolism and Energy). We observe that FAME shows an unusually high evolutionary divergence in birds and mammals. Through the comparison of single nucleotide polymorphisms, we identify gene flow of FAME from Neandertals into modern humans. We conduct knockout experiments on animals and observe altered body weight and decreased energy expenditure in Fame knockout animals, corresponding to genome-wide association studies linking FAME with higher body mass index in humans. Gene expression and subcellular localization analyses reveal that FAME is a membrane-bound protein enriched in the kidneys. Although the gene knockout results in structurally normal kidneys, we detect higher albumin in urine and lowered ferritin in the blood. Through experimental validation, we confirm interactions between FAME and ferritin and show co-localization in vesicular and plasma membranes.
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