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Håkan Axelson

Håkan Axelson

Research team manager

Håkan Axelson

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

Author

  • Julian Petersen
  • Lukas Englmaier
  • Artem V. Artemov
  • Irina Poverennaya
  • Ruba Mahmoud
  • Thibault Bouderlique
  • Marketa Tesarova
  • Ruslan Deviatiiarov
  • Anett Szilvásy-Szabó
  • Evgeny E. Akkuratov
  • David Pajuelo Reguera
  • Hugo Zeberg
  • Marketa Kaucka
  • Maria Eleni Kastriti
  • Jan Krivanek
  • Tomasz Radaszkiewicz
  • Kristína Gömöryová
  • Sarah Knauth
  • David Potesil
  • Zbynek Zdrahal
  • Ranjani Sri Ganji
  • Anna Grabowski
  • Miriam E. Buhl
  • Tomas Zikmund
  • Michaela Kavkova
  • Håkan Axelson
  • David Lindgren
  • Rafael Kramann
  • Christoph Kuppe
  • Ferenc Erdélyi
  • Zoltán Máté
  • Gábor Szabó
  • Till Koehne
  • Tibor Harkany
  • Kaj Fried
  • Jozef Kaiser
  • Peter Boor
  • Csaba Fekete
  • Jan Rozman
  • Petr Kasparek
  • Jan Prochazka
  • Radislav Sedlacek
  • Vitezslav Bryja
  • Oleg Gusev
  • Igor Adameyko
Show all

Summary, in English

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.

Department/s

  • Division of Translational Cancer Research
  • LUCC: Lund University Cancer Centre

Publishing year

2023

Language

English

Publication/Series

Nature Communications

Volume

14

Issue

1

Document type

Journal article

Publisher

Nature Publishing Group

Topic

  • Genetics
  • Medical Genetics

Status

Published

ISBN/ISSN/Other

  • ISSN: 2041-1723