Nature Communications (Jun 2016)
Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3
- Lindsey Van Haute,
- Sabine Dietmann,
- Laura Kremer,
- Shobbir Hussain,
- Sarah F. Pearce,
- Christopher A. Powell,
- Joanna Rorbach,
- Rebecca Lantaff,
- Sandra Blanco,
- Sascha Sauer,
- Urania Kotzaeridou,
- Georg F. Hoffmann,
- Yasin Memari,
- Anja Kolb-Kokocinski,
- Richard Durbin,
- Johannes A. Mayr,
- Michaela Frye,
- Holger Prokisch,
- Michal Minczuk
Affiliations
- Lindsey Van Haute
- MRC Mitochondrial Biology Unit
- Sabine Dietmann
- Wellcome Trust—Medical Research Council Cambridge Stem Cell Institute, Genetics, University of Cambridge
- Laura Kremer
- Helmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH), Institute of Human Genetics
- Shobbir Hussain
- Department of Biology & Biochemistry, University of Bath, Claverton Down
- Sarah F. Pearce
- MRC Mitochondrial Biology Unit
- Christopher A. Powell
- MRC Mitochondrial Biology Unit
- Joanna Rorbach
- MRC Mitochondrial Biology Unit
- Rebecca Lantaff
- Department of Physiology Development and Neuroscience, University of Cambridge
- Sandra Blanco
- Wellcome Trust—Medical Research Council Cambridge Stem Cell Institute, Genetics, University of Cambridge
- Sascha Sauer
- Max-Planck-Institute for Molecular Genetics, Otto-Warburg Laboratory
- Urania Kotzaeridou
- Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital
- Georg F. Hoffmann
- Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital
- Yasin Memari
- Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
- Anja Kolb-Kokocinski
- Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
- Richard Durbin
- Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
- Johannes A. Mayr
- Department of Paediatrics, Paracelsus Medical University
- Michaela Frye
- Wellcome Trust—Medical Research Council Cambridge Stem Cell Institute, Genetics, University of Cambridge
- Holger Prokisch
- Helmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH), Institute of Human Genetics
- Michal Minczuk
- MRC Mitochondrial Biology Unit
- DOI
- https://doi.org/10.1038/ncomms12039
- Journal volume & issue
-
Vol. 7,
no. 1
pp. 1 – 10
Abstract
The post-transcriptional 5-methylcytosine (m5C) modification occurs in a wide range of nuclear-encoded RNAs. Here the authors identify the mitochondrial tRNA-Met as a target for the m5C methyltransferase NSun3—found mutated in a mitochondrial disease patient—and link mitochondrial tRNA modifications with energy metabolism.
