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

J 2023

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, Lukas ENGLMAIER, Artem V ARTEMOV, Irina POVERENNAYA, Ruba MAHMOUD et. al.

Basic information

Original name

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

Authors

PETERSEN, Julian, Lukas ENGLMAIER, Artem V ARTEMOV, Irina POVERENNAYA, Ruba MAHMOUD, Thibault BOUDERLIQUE, Marketa TESAROVA, Ruslan DEVIATIIAROV, Anett SZILVASY-SZABO, Evgeny E AKKURATOV, Pajuelo Reguera DAVID, Hugo ZEBERG, Marketa KAUCKA, Maria Eleni KASTRITI, Jan KŘIVÁNEK (203 Czech Republic, belonging to the institution), Tomasz Witold RADASZKIEWICZ (616 Poland, belonging to the institution), Kristína GÖMÖRYOVÁ (703 Slovakia, belonging to the institution), Sarah KNAUTH, David POTĚŠIL (203 Czech Republic, belonging to the institution), Zbyněk ZDRÁHAL (203 Czech Republic, belonging to the institution), Sri Ranjani GANJI (356 India, belonging to the institution), Anna GRABOWSKI, Miriam E BUHL, Tomas ZIKMUND, Michaela KAVKOVÁ (203 Czech Republic, belonging to the institution), Hakan AXELSON, David LINDGREN, Rafael KRAMANN, Christoph KUPPE, Ferenc ERDELYI, Zoltan MATE, Gabor SZABO, Till KOEHNE, Tibor HARKANY, Kaj FRIED, Jozef KAISER, Peter BOOR, Csaba FEKETE, Jan ROZMAN, Petr KASPAREK, Jan PROCHAZKA, Radislav SEDLACEK, Vítězslav BRYJA (203 Czech Republic, belonging to the institution), Oleg GUSEV and Igor ADAMEYKO (guarantor)

Edition

Nature Communications, Berlin, Nature, 2023, 2041-1723

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

10603 Genetics and heredity

Country of publisher

Germany

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 16.600 in 2022

RIV identification code

RIV/00216224:14310/23:00133471

Organization unit

Faculty of Science

DOI

http://dx.doi.org/10.1038/s41467-023-38663-7

UT WoS

001029731000007

Keywords in English

Evolutionary genetics; Genetic models; Kidney; Protein

Abstract

V originále

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.

Links

EF18_046/0015974, research and development project

Name: Modernizace České infrastruktury pro integrativní strukturní biologii

GA22-02794S, research and development project

Name: Mechanorecepce jako mechanizmus řídící odontogenezi napříč obratlovci

Investor: Czech Science Foundation

LM2023042, research and development project

Name: Česká infrastruktura pro integrativní strukturní biologii

Investor: Ministry of Education, Youth and Sports of the CR, CIISB - Czech Infrastructure for Integrative Structural Biology

MUNI/H/1615/2018, interní kód MU

Name: Understanding of tooth developmental trajectories as a novel approach for dental regeneration

Investor: Masaryk University, Individual High risk/high gain projects

90140, large research infrastructures

Name: e-INFRA CZ

90242, large research infrastructures

Name: CIISB III

Citovat

PETERSEN, Julian, Lukas ENGLMAIER, Artem V ARTEMOV, Irina POVERENNAYA, Ruba MAHMOUD, Thibault BOUDERLIQUE, Marketa TESAROVA, Ruslan DEVIATIIAROV, Anett SZILVASY-SZABO, Evgeny E AKKURATOV, Pajuelo Reguera DAVID, Hugo ZEBERG, Marketa KAUCKA, Maria Eleni KASTRITI, Jan KŘIVÁNEK, Tomasz Witold RADASZKIEWICZ, Kristína GÖMÖRYOVÁ, Sarah KNAUTH, David POTĚŠIL, Zbyněk ZDRÁHAL, Sri Ranjani GANJI, Anna GRABOWSKI, Miriam E BUHL, Tomas ZIKMUND, Michaela KAVKOVÁ, Hakan AXELSON, David LINDGREN, Rafael KRAMANN, Christoph KUPPE, Ferenc ERDELYI, Zoltan MATE, Gabor SZABO, Till KOEHNE, Tibor HARKANY, Kaj FRIED, Jozef KAISER, Peter BOOR, Csaba FEKETE, Jan ROZMAN, Petr KASPAREK, Jan PROCHAZKA, Radislav SEDLACEK, Vítězslav BRYJA, Oleg GUSEV and Igor ADAMEYKO. A previously uncharacterized Factor Associated with Metabolism and Energy (FAME/C14orf105/CCDC198/1700011H14Rik) is related to evolutionary adaptation, energy balance, and kidney physiology. Nature Communications. Berlin: Nature, 2023, vol. 14, No 1, p. 1-22. ISSN 2041-1723. Available from: https://dx.doi.org/10.1038/s41467-023-38663-7.

@article{2370759,
   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 SzilvasyandSzabo, Anett and Akkuratov, Evgeny E and David, Pajuelo Reguera and Zeberg, Hugo and Kaucka, Marketa and Kastriti, Maria Eleni and Křivánek, Jan and Radaszkiewicz, Tomasz Witold and Gömöryová, Kristína and Knauth, Sarah and Potěšil, David and Zdráhal, Zbyněk and Ganji, Sri Ranjani and Grabowski, Anna and Buhl, Miriam E and Zikmund, Tomas and Kavková, Michaela and Axelson, Hakan and Lindgren, David and Kramann, Rafael and Kuppe, Christoph and Erdelyi, Ferenc and Mate, Zoltan and Szabo, Gabor 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, Vítězslav and Gusev, Oleg and Adameyko, Igor},
   article_location = {Berlin},
   article_number = {1},
   doi = {http://dx.doi.org/10.1038/s41467-023-38663-7},
   keywords = {Evolutionary genetics; Genetic models; Kidney; Protein},
   language = {eng},
   issn = {2041-1723},
   journal = {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 = {https://www.nature.com/articles/s41467-023-38663-7},
   volume = {14},
   year = {2023}
}

TY  - JOUR
ID  - 2370759
AU  - 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
PY  - 2023
TI  - A previously uncharacterized Factor Associated with Metabolism and Energy (FAME/C14orf105/CCDC198/1700011H14Rik) is related to evolutionary adaptation, energy balance, and kidney physiology
JF  - Nature Communications
VL  - 14
IS  - 1
SP  - 1-22
EP  - 1-22
PB  - Nature
SN  - 20411723
KW  - Evolutionary genetics
KW  - Genetic models
KW  - Kidney
KW  - Protein
UR  - https://www.nature.com/articles/s41467-023-38663-7
N2  - 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.
ER  -

PETERSEN, Julian, Lukas ENGLMAIER, Artem V ARTEMOV, Irina POVERENNAYA, Ruba MAHMOUD, Thibault BOUDERLIQUE, Marketa TESAROVA, Ruslan DEVIATIIAROV, Anett SZILVASY-SZABO, Evgeny E AKKURATOV, Pajuelo Reguera DAVID, Hugo ZEBERG, Marketa KAUCKA, Maria Eleni KASTRITI, Jan KŘIVÁNEK, Tomasz Witold RADASZKIEWICZ, Kristína GÖMÖRYOVÁ, Sarah KNAUTH, David POTĚŠIL, Zbyněk ZDRÁHAL, Sri Ranjani GANJI, Anna GRABOWSKI, Miriam E BUHL, Tomas ZIKMUND, Michaela KAVKOVÁ, Hakan AXELSON, David LINDGREN, Rafael KRAMANN, Christoph KUPPE, Ferenc ERDELYI, Zoltan MATE, Gabor SZABO, Till KOEHNE, Tibor HARKANY, Kaj FRIED, Jozef KAISER, Peter BOOR, Csaba FEKETE, Jan ROZMAN, Petr KASPAREK, Jan PROCHAZKA, Radislav SEDLACEK, Vítězslav BRYJA, Oleg GUSEV and Igor ADAMEYKO. A previously uncharacterized Factor Associated with Metabolism and Energy (FAME/C14orf105/CCDC198/1700011H14Rik) is related to evolutionary adaptation, energy balance, and kidney physiology. \textit{Nature Communications}. Berlin: Nature, 2023, vol.~14, No~1, p.~1-22. ISSN~2041-1723. Available from: https://dx.doi.org/10.1038/s41467-023-38663-7.

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