ArticleProceedings of the National Academy of Sciences of the United States of America2023
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.
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Article in Proceedings of the National Academy of Sciences of the United States of America, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16citing papers in PubMed
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16 citing papers in PubMed, 24 citations in OpenAlex.
- Multiple quality control checkpoints safeguard small nuclear RNA biogenesis and prevent assembly of aberrant spliceosomes.Genes & development · 2026Article
- Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs.medRxiv : the preprint server for health sciences · 2026Article
- Loss of U11/U12 spliceosome geneLife science alliance · 2026Article
- The minor spliceosome component U4atac regulates JAK/STAT signaling to modulate hematopoiesis and immune responses in Drosophila melanogaster.Nature communications · 2026Article
- Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes.American journal of human genetics · 2026Article
- Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients.Orphanet journal of rare diseases · 2026Article
- Small nuclear RNA genes in Mendelian disorders.Nature genetics · 2026Review
- CRISPR-RfxCas13d screening uncovers Bckdk as a post-translational regulator of maternal-to-zygotic transition in teleosts.The EMBO journal · 2025Article
- Multiple Quality Control Checkpoints Safeguard Small Nuclear RNA Biogenesis and Prevent Assembly of Aberrant Spliceosomes.bioRxiv : the preprint server for biology · 2025Article
- Further evidence ofJournal of medical genetics · 2025Article
- Identification of human pathways acting on nuclear non-coding RNAs using the Mirror forward genetic approach.Nature communications · 2025Article
- Enhanced RNA-targeting CRISPR-Cas technology in zebrafish.Nature communications · 2025Article
- Connecting genotype and phenotype in minor spliceosome diseases.RNA (New York, N.Y.) · 2025Review
- Modeling craniofacial spliceosomopathies: a pathway toward deciphering disease mechanisms.Frontiers in cell and developmental biology · 2025Review
- Enhanced RNA-targeting CRISPR-Cas technology in zebrafish.bioRxiv : the preprint server for biology · 2024Article
- Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex.Nucleic acids research · 2023Article
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Authors and funding
32 authors at 11 institutions in 2 countries.
Deepak KhatriUniversité Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292,Genetics of Neurodevelopment Team, 69500 Bron, France.
Audrey PutouxUniversité Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292,Genetics of Neurodevelopment Team, 69500 Bron, France.
Audric CologneUniversité Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292,Genetics of Neurodevelopment Team, 69500 Bron, France.
Sophie KaltenbachDepartment of Histology Embryology and Cytogenetics, Assistance Publique - Hôpitaux de Paris, Necker-Enfants Malades Hospital, University of Paris, 75015 Paris, France.
Alicia BessonUniversité Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292,Genetics of Neurodevelopment Team, 69500 Bron, France.
Eloïse BertiauxDepartment of Cell Biology, Sciences III, University of Geneva, 1211-Geneva, Switzerland.
Justine GuguinUniversité Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292,Genetics of Neurodevelopment Team, 69500 Bron, France.ORCID 0000-0001-9616-4867
Adèle FendlerUniversité Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292,Genetics of Neurodevelopment Team, 69500 Bron, France.ORCID 0000-0003-0197-3747
Marie A DupontLaboratory of hereditary kidney diseases, Imagine Institute, U1163 INSERM, University of Paris, 75015 Paris, France.
Clara Benoit-PilvenUniversité Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292,Genetics of Neurodevelopment Team, 69500 Bron, France.
Leila QebiboDépartement de Génétique, Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Assistance Publique - Hôpitaux de Paris, Sorbonne University, Trousseau Hospital, 75012 Paris, France.ORCID 0000-0003-4850-0162
Samira Ahmed-ElieDépartement 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-BellangerDepartment of Genetics, Clinical Genetics Unit, Centre de Compétence Anomalies du Développement et Syndromes Polymalformatifs, Centre Hospitalier Universitaire Morvan, 29200 Brest, France.
Pierre BlancLaboratoire SeqOIA-PFMG2025, 75014 Paris, France.
Thomas RambaudLaboratoire SeqOIA-PFMG2025, 75014 Paris, France.
Martin CastelleHematology-Immunology Unit, Assistance Publique - Hôpitaux de Paris, Necker-Enfants Malades Hospital, 75015 Paris, France.
Gaëlle CornenPediatric service, Centre Hospitalier Morlaix, 29600 Morlaix, France.
Sarah GrottoClinical Genetics Unit, Maternité Port-Royal, Assistance Publique - Hôpitaux de Paris, Cochin Broca Hôtel-Dieu Hospitals 75014 Paris, France.
Agnès GuëtNeonatal and Pediatric Units, Louis-Mourier Hospital, 92700 Colombes, France.
Laurent GuibaudPediatric and Fetal Imaging, Hospices Civils de Lyon, Université Claude Bernard Lyon 1, 69500 Bron, France.
Caroline MichotClinical Genetics Department, Centre de Référence Maladies Rares-Maladies Osseuses Constitutionnelles, Assistance Publique - Hôpitaux de Paris, Necker-Enfants Malades Hospital, 75015 Paris, France.
Sylvie OdentService 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 RuaudNeuroDiderot, UMR1141, University of Paris, 75019 Paris, France.ORCID 0000-0003-4940-5896
Elise SacazePediatric Service, Centre Hospitalier Régional Universitaire Brest, 29200 Brest, France.ORCID 0000-0001-9138-4852
Virginie HamelDepartment of Cell Biology, Sciences III, University of Geneva, 1211-Geneva, Switzerland.ORCID 0000-0001-5092-2343
Rémy BordonnéInstitute of Molecular Genetics of Montpellier, UMR5535 CNRS, University of Montpellier, 34000 Montpellier, France.ORCID 0000-0002-1445-5802
Anne-Louise LeuteneggerNeuroDiderot, UMR1141, University of Paris, 75019 Paris, France.
Patrick EderyUniversité Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292,Genetics of Neurodevelopment Team, 69500 Bron, France.ORCID 0000-0001-8976-5832
Lydie BurglenDépartement de Génétique, Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Assistance Publique - Hôpitaux de Paris, Sorbonne University, Trousseau Hospital, 75012 Paris, France.ORCID 0000-0002-1119-6809
Tania Attié-BitachDepartment of Histology Embryology and Cytogenetics, Assistance Publique - Hôpitaux de Paris, Necker-Enfants Malades Hospital, University of Paris, 75015 Paris, France.
Sylvie MazoyerUniversité Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292,Genetics of Neurodevelopment Team, 69500 Bron, France.ORCID 0000-0002-2135-0160
Marion DelousUniversité Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292,Genetics of Neurodevelopment Team, 69500 Bron, France.ORCID 0000-0003-2666-4457
Université Claude Bernard Lyon 1 · FRHôpital Necker-Enfants Malades · FRCentre Hospitalier Régional Universitaire de Brest · FRCentre National de la Recherche Scientifique · FRDélégation Paris 7 · FRInserm · FRSorbonne Université · FRUniversity of Geneva · CHAssistance Publique – Hôpitaux de Paris · FRCentre Hospitalier des Pays de Morlaix · FRHôpital Louis-Mourier · FR
Funding
Agence Nationale de la Recherche (ANR) ANR-18CE12-0007-01European Molecular Biology Organization (EMBO) ALTF-284-2019Fondation Maladies Rares (FMR) 20161207Novartis Stiftung für Medizinisch-Biologische Forschung (Novartis Foundation for Medical-Biological Research) 18B112
Abstract
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,
Indexed as
CiliopathiesSpliceosomesAbnormalities, MultipleAnimalsCerebellumDwarfismEye AbnormalitiesFaciesFemaleFetal Growth RetardationHumansKidney Diseases, CysticMicrocephalyMutationRetinaRNA, Small NuclearRNA, Small Nucleargenetic diseaseminor intronsprimary ciliumsplicingU4atac
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.