학술논문
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
Document Type
article
Author
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
Source
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
Subject
Language
English
ISSN
2041-1723
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.