| http://purl.uniprot.org/citations/27899647 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27899647 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27899647 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |
| http://purl.uniprot.org/citations/27899647 | http://purl.org/dc/terms/identifier | "doi:10.1093/nar/gkw1043"xsd:string |
| http://purl.uniprot.org/citations/27899647 | http://purl.uniprot.org/core/author | "Chen J.Y."xsd:string |
| http://purl.uniprot.org/citations/27899647 | http://purl.uniprot.org/core/author | "Chen J.Y."xsd:string |
| http://purl.uniprot.org/citations/27899647 | http://purl.uniprot.org/core/author | "Li Y."xsd:string |
| http://purl.uniprot.org/citations/27899647 | http://purl.uniprot.org/core/author | "Li Y."xsd:string |
| http://purl.uniprot.org/citations/27899647 | http://purl.uniprot.org/core/author | "Yang R."xsd:string |
| http://purl.uniprot.org/citations/27899647 | http://purl.uniprot.org/core/author | "Yang R."xsd:string |
| http://purl.uniprot.org/citations/27899647 | http://purl.uniprot.org/core/author | "Zhu X."xsd:string |
| http://purl.uniprot.org/citations/27899647 | http://purl.uniprot.org/core/author | "Zhu X."xsd:string |
| http://purl.uniprot.org/citations/27899647 | http://purl.uniprot.org/core/author | "Zhou Q."xsd:string |
| http://purl.uniprot.org/citations/27899647 | http://purl.uniprot.org/core/author | "Zhou Q."xsd:string |
| http://purl.uniprot.org/citations/27899647 | http://purl.uniprot.org/core/author | "Yan S.Y."xsd:string |
| http://purl.uniprot.org/citations/27899647 | http://purl.uniprot.org/core/author | "Yan S.Y."xsd:string |
| http://purl.uniprot.org/citations/27899647 | http://purl.uniprot.org/core/author | "Lei L."xsd:string |
| http://purl.uniprot.org/citations/27899647 | http://purl.uniprot.org/core/author | "Lei L."xsd:string |
| http://purl.uniprot.org/citations/27899647 | http://purl.uniprot.org/core/author | "Li C.Y."xsd:string |
| http://purl.uniprot.org/citations/27899647 | http://purl.uniprot.org/core/author | "Li C.Y."xsd:string |
| http://purl.uniprot.org/citations/27899647 | http://purl.uniprot.org/core/author | "Bu Y."xsd:string |
| http://purl.uniprot.org/citations/27899647 | http://purl.uniprot.org/core/author | "Bu Y."xsd:string |
| http://purl.uniprot.org/citations/27899647 | http://purl.uniprot.org/core/author | "Chang N."xsd:string |
| http://purl.uniprot.org/citations/27899647 | http://purl.uniprot.org/core/author | "Chang N."xsd:string |
| http://purl.uniprot.org/citations/27899647 | http://purl.uniprot.org/core/author | "Xiong J.W."xsd:string |