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

Petersen, Julian ; Englmaier, Lukas ; Artemov, Artem V. ; Poverennaya, Irina ; Mahmoud, Ruba ; Bouderlique, Thibault ; Tesarova, Marketa ; Deviatiiarov, Ruslan ; Szilvásy-Szabó, Anett and Akkuratov, Evgeny E. , et al. (2023) In Nature Communications 14(1).
Abstract

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... (More)

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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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Nature Communications
volume
14
issue
1
article number
3092
publisher
Nature Publishing Group
external identifiers
  • pmid:37248239
  • scopus:85160308161
ISSN
2041-1723
DOI
10.1038/s41467-023-38663-7
language
English
LU publication?
yes
id
452fd63a-474e-40be-b36b-71df2ee6f9a8
date added to LUP
2023-08-16 15:56:33
date last changed
2024-04-20 00:51:10
@article{452fd63a-474e-40be-b36b-71df2ee6f9a8,
  abstract     = {{<p>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.</p>}},
  author       = {{Petersen, Julian and Englmaier, Lukas and Artemov, Artem V. and Poverennaya, Irina and Mahmoud, Ruba and Bouderlique, Thibault and Tesarova, Marketa and Deviatiiarov, Ruslan and Szilvásy-Szabó, Anett and Akkuratov, Evgeny E. and Pajuelo Reguera, David and Zeberg, Hugo and Kaucka, Marketa and Kastriti, Maria Eleni and Krivanek, Jan and Radaszkiewicz, Tomasz and Gömöryová, Kristína and Knauth, Sarah and Potesil, David and Zdrahal, Zbynek and Ganji, Ranjani Sri and Grabowski, Anna and Buhl, Miriam E. and Zikmund, Tomas and Kavkova, Michaela and Axelson, Håkan and Lindgren, David and Kramann, Rafael and Kuppe, Christoph and Erdélyi, Ferenc and Máté, Zoltán and Szabó, Gábor and Koehne, Till and Harkany, Tibor and Fried, Kaj and Kaiser, Jozef and Boor, Peter and Fekete, Csaba and Rozman, Jan and Kasparek, Petr and Prochazka, Jan and Sedlacek, Radislav and Bryja, Vitezslav and Gusev, Oleg and Adameyko, Igor}},
  issn         = {{2041-1723}},
  language     = {{eng}},
  number       = {{1}},
  publisher    = {{Nature Publishing Group}},
  series       = {{Nature Communications}},
  title        = {{A previously uncharacterized Factor Associated with Metabolism and Energy (FAME/C14orf105/CCDC198/1700011H14Rik) is related to evolutionary adaptation, energy balance, and kidney physiology}},
  url          = {{http://dx.doi.org/10.1038/s41467-023-38663-7}},
  doi          = {{10.1038/s41467-023-38663-7}},
  volume       = {{14}},
  year         = {{2023}},
}