Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

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...

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Autores principales: 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
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2019
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Q
Acceso en línea:https://doaj.org/article/77cd12b7d5974fda8810f1a228293257
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spelling oai:doaj.org-article:77cd12b7d5974fda8810f1a2282932572021-12-02T15:35:07ZDefects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome10.1038/s41467-019-11951-x2041-1723https://doaj.org/article/77cd12b7d5974fda8810f1a2282932572019-09-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-11951-xhttps://doaj.org/toc/2041-1723The 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.Christelle ArrondelSophia MissouryRozemarijn SnoekJulie PatatGiulia MenaraBruno CollinetDominique LigerDominique DurandOlivier GribouvalOlivia BoyerLaurine BuscaraGaëlle MartinEduardo MachucaFabien NevoEwen LescopDaniela A. BraunAnne-Claire BoschatSylvia SanquerIda Chiara GuerreraPatrick RevyMélanie ParisotCécile MassonNathalie BoddaertMarina CharbitStéphane DecramerRobert NovoMarie-Alice MacherBruno RanchinJustine BacchettaAudrey LaurentSophie Collardeau-FrachonAlbertien M. van EerdeFriedhelm HildebrandtDaniella MagenCorinne AntignacHerman van TilbeurghGéraldine MolletNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
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
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
description 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.
format 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
author_facet 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
author_sort Christelle Arrondel
title Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
title_short Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
title_full Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
title_fullStr Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
title_full_unstemmed Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
title_sort defects in t6a trna modification due to gon7 and yrdc mutations lead to galloway-mowat syndrome
publisher Nature Portfolio
publishDate 2019
url https://doaj.org/article/77cd12b7d5974fda8810f1a228293257
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