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:

Impact factor

Impact factor: 16.600 in 2022

RIV identification code

RIV/00216224:14310/23:00133471

Organization unit

Faculty of Science

UT WoS

001029731000007

Keywords in English

Evolutionary genetics; Genetic models; Kidney; Protein

Tags

International impact, Reviewed
Změněno: 8/4/2024 00:11, Mgr. Eva Dubská

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