C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome.

TitleC7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome.
Publication TypeJournal Article
Year of Publication2012
AuthorsRorbach, J, Gammage, PA, Minczuk, MA
JournalNucleic Acids Res
Volume40
Issue9
Pagination4097-109
Date Published2012 May
ISSN1362-4962
KeywordsAmino Acid Sequence, Cell Line, Humans, Mitochondria, Mitochondrial Proteins, Models, Molecular, Molecular Sequence Data, Mutation, Oxidative Phosphorylation, Protein Biosynthesis, Protein Structure, Tertiary, Ribosomal Proteins, Ribosome Subunits, Large, Eukaryotic, RNA Interference
Abstract

Defects of the translation apparatus in human mitochondria are known to cause disease, yet details of how protein synthesis is regulated in this organelle remain to be unveiled. Here, we characterize a novel human protein, C7orf30 that contributes critically to mitochondrial translation and specifically associates with the large subunit of the mitochondrial ribosome (mt-LSU). Inactivation of C7orf30 in human cells by RNA interference results in respiratory incompetence owing to reduced mitochondrial translation rates without any appreciable effects on the steady-state levels of mitochondrial mRNAs and rRNAs. Ineffective translation in C7orf30-depleted cells or cells overexpressing a dominant-negative mutant of the protein results from aberrant assembly of mt-LSU and consequently reduced formation of the monosome. These findings lead us to propose that C7orf30 is a human assembly and/or stability factor involved in the biogenesis of the large subunit of the mitochondrial ribosome.

DOI10.1093/nar/gkr1282
Alternate JournalNucleic Acids Res.
Citation Key10.1093/nar/gkr1282
PubMed ID22238376
PubMed Central IDPMC3351152
Grant ListMC_U105697135 / / Medical Research Council / United Kingdom