ArticleNucleic acids research2017
Spliceosomal protein eftud2 mutation leads to p53-dependent apoptosis in zebrafish neural progenitors.
Article in Nucleic acids research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 89 citations in OpenAlex.
- [Spliceosome defects and neurodevelopmental disorders].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Review
- NOC4L coordinates neuronal and pharyngeal arch development by regulating ribosome biogenesis.Journal of molecular cell biology · 2026Article
- GlialeLife · 2026Article
- Direct and indirect effects of spliceosome disruption compromise gene regulation by nonsense-mediated mRNA decay.RNA biology · 2025Article
- Alternative spliceosomal protein Eftud2 mediated Kif3a exon skipping promotes SHH-subgroup medulloblastoma progression.Cell death and differentiation · 2025Article
- Splicing Defects and Cell Death CauseJournal of dental research · 2025Article
- EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase-3 and Aifm1 Splicing Pathways.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- A novelTranslational pediatrics · 2025Article
- Modeling craniofacial spliceosomopathies: a pathway toward deciphering disease mechanisms.Frontiers in cell and developmental biology · 2025Review
- Addressing the tissue specificity of U5 snRNP spliceosomopathies.Frontiers in cell and developmental biology · 2025Article
- Pharmacological Inhibition of the Spliceosome SF3b Complex by Pladienolide-B Elicits Craniofacial Developmental Defects in Mouse and Zebrafish.Birth defects research · 2024Article
- Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly.BMC medical genomics · 2024Article
- Developmental isoform diversity in the human neocortex informs neuropsychiatric risk mechanisms.Science (New York, N.Y.) · 2024Article
- A common cellular response to broad splicing perturbations is characterized by metabolic transcript downregulation driven by the Mdm2-p53 axis.Disease models & mechanisms · 2024Article
- Spliceosomal GTPase Eftud2 regulates microglial activation and polarization.Neural regeneration research · 2023Article
- The Spliceosome Factor EFTUD2 Promotes IFN Anti-HBV Effect through mRNA Splicing.Mediators of inflammation · 2023Article
- Article
- The emerging significance of splicing in vertebrate development.Development (Cambridge, England) · 2022Review
- Craniofacial Defects in Embryos with Homozygous Deletion ofInternational journal of molecular sciences · 2022Article
- The Core Splicing Factors EFTUD2, SNRPB and TXNL4A Are Essential for Neural Crest and Craniofacial Development.Journal of developmental biology · 2022Article
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Haploinsufficiency of EFTUD2 (Elongation Factor Tu GTP Binding Domain Containing 2) is linked to human mandibulofacial dysostosis, Guion-Almeida type (MFDGA), but the underlying cellular and molecular mechanisms remain to be addressed. We report here the isolation, cloning and functional analysis of the mutated eftud2 (snu114) in a novel neuronal mutant fn10a in zebrafish. This mutant displayed abnormal brain development with evident neuronal apoptosis while the development of other organs appeared less affected. Positional cloning revealed a nonsense mutation such that the mutant eftud2 mRNA encoded a truncated Eftud2 protein and was subjected to nonsense-mediated decay. Disruption of eftud2 led to increased apoptosis and mitosis of neural progenitors while it had little effect on differentiated neurons. Further RNA-seq and functional analyses revealed a transcriptome-wide RNA splicing deficiency and a large amount of intron-retaining and exon-skipping transcripts, which resulted in inadequate nonsense-mediated RNA decay and activation of the p53 pathway in fn10a mutants. Therefore, our study has established that eftud2 functions in RNA splicing during neural development and provides a suitable zebrafish model for studying the molecular pathology of the neurological disease MFDGA.
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