PreprintCited by 3Mitochondrial Function and PathologyBiotin and Related StudiesAutophagy in Disease and Therapy

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Uncharacterized protein c17orf80: a novel interactor of human mitochondrial nucleoids

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Potter, Alisa, Hangas, Anu, Goffart, Steffi, Huynen, Martijn A., Cabrera-Orefice, Alfredo, Spelbrink, Johannes N.·2022·Journal of Cell Science

Preprint — published as 10.1242/jcs.260822

Abstract

Molecular functions of many human proteins remain unstudied, despite the demonstrated association with diseases or pivotal molecular structures, such as mitochondrial DNA (mtDNA). This small genome is crucial for proper functioning of mitochondria, the energy-converting organelles. In mammals, mtDNA is arranged into macromolecular complexes called nucleoids that serve as functional stations for its maintenance and expression. Here, we aimed to explore an uncharacterized protein c17orf80, which was previously detected close to the nucleoid components by proximity-labelling mass spectrometry. To investigate the subcellular localization and function of c17orf80, we took an advantage of immunofluorescence microscopy, interaction proteomics and several biochemical assays. We demonstrate that c17orf80 is a mitochondrial membrane-associated protein that interacts with nucleoids even when mtDNA replication is inhibited. In addition, we show that c17orf80 is not essential for mtDNA maintenance and mitochondrial gene expression in cultured human cells. These results provide a basis for uncovering the molecular function of c17orf80 and the nature of its association with nucleoids, possibly leading to new insights about mtDNA and its expression.

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Metadata

Authors
Potter, A., Hangas, A., Goffart, S., Huynen, M. A., Cabrera-Orefice, A., & Spelbrink, J. N.
Affiliations
  • Radboud University Medical Center (NL)
  • University of Eastern Finland (FI)
Corresponding author
  • Potter, Alisa
  • Spelbrink, Johannes N.
Venue
Journal of Cell Science
Publisher
openRxiv
Published
2022-11-22
Volume
136
Issue
15
ISSN
0021-9533 (ISSN-L)
OpenAlex
W4383059049
Cited by
3
References
1
Citations by year
2026: 2 · 2025: 1
FWCI
0.27
Type
journal article
Language
en
Open access
Licence
cc-by
Locations
  • Journal of Cell Science (publishedVersion, cc-by)
  • bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nc-nd)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Radboud Repository (Radboud University) (submittedVersion)
Funders
  • European Commission (721757, HORIZON2020)
  • ZonMw (TOP 91217009, 91217009, ZonMW TOP 91217009)
  • Radboud Universiteit
  • Academy of Finland (332458)
  • Horizon 2020 Framework Programme
  • HORIZON EUROPE Marie Sklodowska-Curie Actions (721757)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Biotin and Related Studies
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Autophagy in Disease and Therapy
Keywords
mitochondrial nucleoids, mitochondrial DNA, protein-protein interaction, mitochondrial membrane proteins, mtDNA maintenance, mitochondrial gene expression, mitochondrial DNA replication
MeSH terms
Animals, DNA Replication, DNA-Binding Proteins, DNA, Mitochondrial, Humans, Mammals, Membrane Proteins, Mitochondria, Mitochondrial Proteins

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