ArticleDevelopmental biology2016
Sf3b4-depleted Xenopus embryos: A model to study the pathogenesis of craniofacial defects in Nager syndrome.
Article in Developmental biology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
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Who cites it
48 citing papers in PubMed, 78 citations in OpenAlex.
- Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia.Human genetics · 2026Article
- Human stem cell model of neural crest cell differentiation reveals a requirement of SF3B4 in survival, maintenance, and differentiation.Developmental dynamics : an official publication of the American Association of Anatomists · 2025Article
- Splicing Defects and Cell Death CauseJournal of dental research · 2025Article
- Identification and Characterization of Static Craniofacial Defects in Pre-MetamorphicJournal of developmental biology · 2025Article
- Determination of trunk neural crest cell fate and susceptibility to splicing perturbation by the DLC1-SF3B1-PHF5A splicing complex.Nature communications · 2025Article
- Deletion of sf3b4 causes splicing defects and gene dysregulation that disrupt craniofacial development and survival.Disease models & mechanisms · 2025Article
- Modeling craniofacial spliceosomopathies: a pathway toward deciphering disease mechanisms.Frontiers in cell and developmental biology · 2025Review
- TheFrontiers in medicine · 2025Review
- Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft.Human mutation · 2025Article
- Pharmacological Inhibition of the Spliceosome SF3b Complex by Pladienolide-B Elicits Craniofacial Developmental Defects in Mouse and Zebrafish.Birth defects research · 2024Article
- Etiology of craniofacial and cardiac malformations in a mouse model ofProceedings of the National Academy of Sciences of the United States of America · 2024Article
- Dyrk1a is required for craniofacial development in Xenopus laevis.Developmental biology · 2024Article
- Human stem cell model of neural crest cell differentiation reveals a requirement of SF3B4 in survival, maintenance, and differentiation.bioRxiv : the preprint server for biology · 2024Article
- Modelling human genetic disorders in Xenopus tropicalis.Disease models & mechanisms · 2024Review
- Article
- A common cellular response to broad splicing perturbations is characterized by metabolic transcript downregulation driven by the Mdm2-p53 axis.Disease models & mechanisms · 2024Article
- JANUS, a spliceosome-associated protein, promotes miRNA biogenesis in Arabidopsis.Nucleic acids research · 2024Article
- The role of alternative pre-mRNA splicing in cancer progression.Cancer cell international · 2023Review
- Paracrine regulation of neural crest EMT by placodal MMP28.PLoS biology · 2023Article
- Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.American journal of human genetics · 2023Article
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
Mandibulofacial dysostosis (MFD) is a human developmental disorder characterized by defects of the facial bones. It is the second most frequent craniofacial malformation after cleft lip and palate. Nager syndrome combines many features of MFD with a variety of limb defects. Mutations in SF3B4 (splicing factor 3b, subunit 4) gene, which encodes a component of the pre-mRNA spliceosomal complex, were recently identified as a cause of Nager syndrome, accounting for 60% of affected individuals. Nothing is known about the cellular pathogenesis underlying Nager type MFD. Here we describe the first animal model for Nager syndrome, generated by knocking down Sf3b4 function in Xenopus laevis embryos, using morpholino antisense oligonucleotides. Our results indicate that Sf3b4-depleted embryos show reduced expression of the neural crest genes sox10, snail2 and twist at the neural plate border, associated with a broadening of the neural plate. This phenotype can be rescued by injection of wild-type human SF3B4 mRNA but not by mRNAs carrying mutations that cause Nager syndrome. At the tailbud stage, morphant embryos had decreased sox10 and tfap2a expression in the pharyngeal arches, indicative of a reduced number of neural crest cells. Later in development, Sf3b4-depleted tadpoles exhibited hypoplasia of neural crest-derived craniofacial cartilages, phenocopying aspects of the craniofacial skeletal defects seen in Nager syndrome patients. With this animal model we are now poised to gain important insights into the etiology and pathogenesis of Nager type MFD, and to identify the molecular targets of Sf3b4.
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