Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.


Journal

Proceedings of the National Academy of Sciences of the United States of America
ISSN: 1091-6490
Titre abrégé: Proc Natl Acad Sci U S A
Pays: United States
ID NLM: 7505876

Informations de publication

Date de publication:
28 02 2023
Historique:
entrez: 21 2 2023
pubmed: 22 2 2023
medline: 25 2 2023
Statut: ppublish

Résumé

In the human genome, about 750 genes contain one intron excised by the minor spliceosome. This spliceosome comprises its own set of snRNAs, among which U4atac. Its noncoding gene,

Identifiants

pubmed: 36802443
doi: 10.1073/pnas.2102569120
pmc: PMC9992838
doi:

Substances chimiques

RNA, Small Nuclear 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

e2102569120

Subventions

Organisme : Agence Nationale de la Recherche (ANR)
ID : ANR-18CE12-0007-01
Organisme : European Molecular Biology Organization (EMBO)
ID : ALTF-284-2019
Organisme : Novartis Stiftung für Medizinisch-Biologische Forschung (Novartis Foundation for Medical-Biological Research)
ID : 18B112
Organisme : Fondation Maladies Rares (FMR)
ID : 20161207

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Auteurs

Deepak Khatri (D)

Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292,Genetics of Neurodevelopment Team, 69500 Bron, France.

Audrey Putoux (A)

Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292,Genetics of Neurodevelopment Team, 69500 Bron, France.
Department of Genetics, Clinical Genetics Unit, Centre de Référence Maladies Rares des Anomalies du Développement, Hospices Civils de Lyon, Université Claude Bernard Lyon 1, 69500 Bron, France.

Audric Cologne (A)

Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292,Genetics of Neurodevelopment Team, 69500 Bron, France.
Institut national de recherche en sciences et technologies du numérique Erable, Laboratoire de Biométrie et Biologie Evolutive, UMR5558 CNRS, Université Claude Bernard Lyon 1, 69622 Villeurbanne, France.

Sophie Kaltenbach (S)

Department of Histology Embryology and Cytogenetics, Assistance Publique - Hôpitaux de Paris, Necker-Enfants Malades Hospital, University of Paris, 75015 Paris, France.

Alicia Besson (A)

Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292,Genetics of Neurodevelopment Team, 69500 Bron, France.

Eloïse Bertiaux (E)

Department of Cell Biology, Sciences III, University of Geneva, 1211-Geneva, Switzerland.

Justine Guguin (J)

Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292,Genetics of Neurodevelopment Team, 69500 Bron, France.

Adèle Fendler (A)

Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292,Genetics of Neurodevelopment Team, 69500 Bron, France.

Marie A Dupont (MA)

Laboratory of hereditary kidney diseases, Imagine Institute, U1163 INSERM, University of Paris, 75015 Paris, France.

Clara Benoit-Pilven (C)

Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292,Genetics of Neurodevelopment Team, 69500 Bron, France.
Institut national de recherche en sciences et technologies du numérique Erable, Laboratoire de Biométrie et Biologie Evolutive, UMR5558 CNRS, Université Claude Bernard Lyon 1, 69622 Villeurbanne, France.

Leila Qebibo (L)

Département de Génétique, Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Assistance Publique - Hôpitaux de Paris, Sorbonne University, Trousseau Hospital, 75012 Paris, France.

Samira Ahmed-Elie (S)

Département de Génétique, Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Assistance Publique - Hôpitaux de Paris, Sorbonne University, Trousseau Hospital, 75012 Paris, France.

Séverine Audebert-Bellanger (S)

Department of Genetics, Clinical Genetics Unit, Centre de Compétence Anomalies du Développement et Syndromes Polymalformatifs, Centre Hospitalier Universitaire Morvan, 29200 Brest, France.

Pierre Blanc (P)

Laboratoire SeqOIA-PFMG2025, 75014 Paris, France.

Thomas Rambaud (T)

Laboratoire SeqOIA-PFMG2025, 75014 Paris, France.

Martin Castelle (M)

Hematology-Immunology Unit, Assistance Publique - Hôpitaux de Paris, Necker-Enfants Malades Hospital, 75015 Paris, France.

Gaëlle Cornen (G)

Pediatric service, Centre Hospitalier Morlaix, 29600 Morlaix, France.

Sarah Grotto (S)

Clinical Genetics Unit, Maternité Port-Royal, Assistance Publique - Hôpitaux de Paris, Cochin Broca Hôtel-Dieu Hospitals 75014 Paris, France.

Agnès Guët (A)

Neonatal and Pediatric Units, Louis-Mourier Hospital, 92700 Colombes, France.

Laurent Guibaud (L)

Pediatric and Fetal Imaging, Hospices Civils de Lyon, Université Claude Bernard Lyon 1, 69500 Bron, France.

Caroline Michot (C)

Clinical Genetics Department, Centre de Référence Maladies Rares-Maladies Osseuses Constitutionnelles, Assistance Publique - Hôpitaux de Paris, Necker-Enfants Malades Hospital, 75015 Paris, France.
Developmental Brain Disorders Laboratory, Imagine Institute, U1163 INSERM, University of Paris, 75015 Paris, France.

Sylvie Odent (S)

Service de Génétique Clinique, Centre Hospitalier Universitaire Rennes, Centre de référence Anomalies du développement et syndromes malformatifs, Univ Rennes, CNRS, INSERM, Institut de Génétique et Développement de Rennes UMR 6290/ Equipe de Recherche Labellisée 1305, 35000 Rennes, France.

Lyse Ruaud (L)

NeuroDiderot, UMR1141, University of Paris, 75019 Paris, France.
Departement of Genetics, Assistance Publique - Hôpitaux de Paris, Robert Debré Hospital, 75019 Paris, France.

Elise Sacaze (E)

Pediatric Service, Centre Hospitalier Régional Universitaire Brest, 29200 Brest, France.

Virginie Hamel (V)

Department of Cell Biology, Sciences III, University of Geneva, 1211-Geneva, Switzerland.

Rémy Bordonné (R)

Institute of Molecular Genetics of Montpellier, UMR5535 CNRS, University of Montpellier, 34000 Montpellier, France.

Anne-Louise Leutenegger (AL)

NeuroDiderot, UMR1141, University of Paris, 75019 Paris, France.

Patrick Edery (P)

Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292,Genetics of Neurodevelopment Team, 69500 Bron, France.
Department of Genetics, Clinical Genetics Unit, Centre de Référence Maladies Rares des Anomalies du Développement, Hospices Civils de Lyon, Université Claude Bernard Lyon 1, 69500 Bron, France.

Lydie Burglen (L)

Département de Génétique, Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Assistance Publique - Hôpitaux de Paris, Sorbonne University, Trousseau Hospital, 75012 Paris, France.
Developmental Brain Disorders Laboratory, Imagine Institute, U1163 INSERM, University of Paris, 75015 Paris, France.

Tania Attié-Bitach (T)

Department of Histology Embryology and Cytogenetics, Assistance Publique - Hôpitaux de Paris, Necker-Enfants Malades Hospital, University of Paris, 75015 Paris, France.
Developmental Brain Disorders Laboratory, Imagine Institute, U1163 INSERM, University of Paris, 75015 Paris, France.

Sylvie Mazoyer (S)

Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292,Genetics of Neurodevelopment Team, 69500 Bron, France.

Marion Delous (M)

Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292,Genetics of Neurodevelopment Team, 69500 Bron, France.

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