Refine
Has Fulltext
- yes (25)
Is part of the Bibliography
- yes (25)
Year of publication
Document Type
- Journal article (18)
- Doctoral Thesis (5)
- Book article / Book chapter (1)
- Preprint (1)
Language
- English (25) (remove)
Keywords
- RNA (25) (remove)
Institute
- Institut für Organische Chemie (11)
- Institut für Molekulare Infektionsbiologie (5)
- Theodor-Boveri-Institut für Biowissenschaften (4)
- Graduate School of Life Sciences (2)
- Institut für Klinische Neurobiologie (2)
- Medizinische Fakultät (2)
- Institut für Hygiene und Mikrobiologie (1)
- Institut für Virologie und Immunbiologie (1)
- Lehrstuhl für Biochemie (1)
- Medizinische Klinik und Poliklinik II (1)
Schriftenreihe
Sonstige beteiligte Institutionen
- Center for Nanosystems Chemistry (CNC), University of Würzburg (1)
- Cluster of Excellence "Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells, Göttingen (1)
- Department of Cellular Biochemistry, University Medical Center Göttingen (1)
- Department of Cellular Biochemistry, University Medical Centre Göttingen (1)
- Department of Molecular Biology, University Medical Centre Göttingen (1)
- Georg August University School of Science (1)
- Göttingen Center for Molecular Biosciences, University of Göttingen (1)
- Institut für Molekulare Infektionsbiologie (MIB) der Universität Würzburg (1)
- Institute of Cancer Research (ICR) London (1)
- Max Planck Institute for Biophysical Chemistry (1)
EU-Project number / Contract (GA) number
- 682586 (6)
- 259867 (1)
- 318987 (1)
- 693023 (1)
- ESF-ZDEX 4.0 (1)
Epitranscriptome modifications are required for structure and function of RNA and defects in these pathways have been associated with human disease. Here we identify the RNA target for the previously uncharacterized 5-methylcytosine (m5C) methyltransferase NSun3 and link m5C RNA modifications with energy metabolism. Using whole-exome sequencing, we identified loss-of-function mutations in NSUN3 in a patient presenting with combined mitochondrial respiratory chain complex deficiency. Patient-derived fibroblasts exhibit severe defects in mitochondrial translation that can be rescued by exogenous expression of NSun3. We show that NSun3 is required for deposition of m5C at the anticodon loop in the mitochondrially encoded transfer RNA methionine (mt-tRNAMet). Further, we demonstrate that m5C deficiency in mt-tRNAMet results in the lack of 5-formylcytosine (f5C) at the same tRNA position. Our findings demonstrate that NSUN3 is necessary for efficient mitochondrial translation and reveal that f5C in human mitochondrial RNA is generated by oxidative processing of m5C.