Nature Communications (Sep 2019)
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
- Christelle Arrondel,
- Sophia Missoury,
- Rozemarijn Snoek,
- Julie Patat,
- Giulia Menara,
- Bruno Collinet,
- Dominique Liger,
- Dominique Durand,
- Olivier Gribouval,
- Olivia Boyer,
- Laurine Buscara,
- Gaëlle Martin,
- Eduardo Machuca,
- Fabien Nevo,
- Ewen Lescop,
- Daniela A. Braun,
- Anne-Claire Boschat,
- Sylvia Sanquer,
- Ida Chiara Guerrera,
- Patrick Revy,
- Mélanie Parisot,
- Cécile Masson,
- Nathalie Boddaert,
- Marina Charbit,
- Stéphane Decramer,
- Robert Novo,
- Marie-Alice Macher,
- Bruno Ranchin,
- Justine Bacchetta,
- Audrey Laurent,
- Sophie Collardeau-Frachon,
- Albertien M. van Eerde,
- Friedhelm Hildebrandt,
- Daniella Magen,
- Corinne Antignac,
- Herman van Tilbeurgh,
- Géraldine Mollet
Affiliations
- Christelle Arrondel
- Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute
- Sophia Missoury
- Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay
- Rozemarijn Snoek
- Department of Genetics, University Medical Center Utrecht
- Julie Patat
- Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute
- Giulia Menara
- Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute
- Bruno Collinet
- Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay
- Dominique Liger
- Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay
- Dominique Durand
- Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay
- Olivier Gribouval
- Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute
- Olivia Boyer
- Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute
- Laurine Buscara
- Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute
- Gaëlle Martin
- Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute
- Eduardo Machuca
- Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute
- Fabien Nevo
- Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute
- Ewen Lescop
- Institut de Chimie des Substances Naturelles, CNRS UPR2301, Université Paris-Sud, Université Paris-Saclay
- Daniela A. Braun
- Department of Medicine, Boston Children’s Hospital, Harvard Medical School
- Anne-Claire Boschat
- Mass Spectrometry Facility, INSERM UMR1163, Imagine Institute
- Sylvia Sanquer
- Service de Biochimie métabolomique et protéomique, Hôpital Necker-Enfants Malades
- Ida Chiara Guerrera
- Proteomics Platform 3P5-Necker, Université de Paris—Structure Fédérative de Recherche Necker, Inserm US24/CNRS
- Patrick Revy
- Inserm UMR1163, Laboratory of Genome Dynamics in the Immune System, Labellisé Ligue contre le Cancer, Université de Paris, Imagine Institute
- Mélanie Parisot
- Genomics Core Facility, Structure Fédérative de Recherche Necker, INSERM U1163 and Inserm US24/CNRS UMS3633, Université de Paris
- Cécile Masson
- Bioinformatics Platform, INSERM UMR1163, Université de Paris, Imagine Institute
- Nathalie Boddaert
- Department of Pediatric Radiology, and Imagine Institute, INSERM UMR 1163 and INSERM U1000, Université de Paris, Hôpital Necker-Enfants Malades
- Marina Charbit
- Department of Pediatric Nephrology, AP-HP, Necker Hospital
- Stéphane Decramer
- Department of Pediatric Nephrology-Internal Medicine, Purpan Hospital
- Robert Novo
- Pediatric Nephrology Unit, University Hospital of Lille
- Marie-Alice Macher
- Department of Pediatric Nephrology, AP-HP, Robert Debre Hospital
- Bruno Ranchin
- Service de Néphrologie, Rhumatologie et Dermatologie pédiatriques, Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de référence de maladies rénales rares, Université de Lyon
- Justine Bacchetta
- Service de Néphrologie, Rhumatologie et Dermatologie pédiatriques, Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de référence de maladies rénales rares, Université de Lyon
- Audrey Laurent
- Service de Néphrologie, Rhumatologie et Dermatologie pédiatriques, Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de référence de maladies rénales rares, Université de Lyon
- Sophie Collardeau-Frachon
- Department of Pathology, Hospices Civils de Lyon-Hôpital Femme-Mère-Enfant, Claude Bernard Lyon 1 University
- Albertien M. van Eerde
- Department of Genetics, University Medical Center Utrecht
- Friedhelm Hildebrandt
- Department of Medicine, Boston Children’s Hospital, Harvard Medical School
- Daniella Magen
- Pediatric Nephrology Institute-Rambam Health Care Campus-Technion Faculty of Medicine
- Corinne Antignac
- Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute
- Herman van Tilbeurgh
- Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay
- Géraldine Mollet
- Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute
- DOI
- https://doi.org/10.1038/s41467-019-11951-x
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 13
Abstract
The biosynthesis of N6-threonylcarbamoylated adenosine 37 in tRNA (t6A) involves the YRDC enzyme and the KEOPS complex. Here, the authors report mutations in YRDC and the KEOPS component GON7 in Galloway-Mowat syndrome and determine the crystal structure of a GON7-containg subcomplex that suggests a role in KEOPS complex stability.
