| http://purl.uniprot.org/citations/12165565 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12165565 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12165565 | http://www.w3.org/2000/01/rdf-schema#comment | "Proximal spinal muscular atrophy (SMA) is a common motor neuron disease caused by homozygous loss of the survival motor neuron gene (SMN1). SMN2, a nearly identical copy of the gene and present in all SMA patients, fails to provide protection from SMA, due to the disruption of an exonic splicing enhancer (ESE) by a single translationally silent nucleotide exchange, which causes alternative splicing of SMN2 exon 7. Identification of splicing factors that stimulate exon 7 inclusion and thereby produce sufficient amounts of full-length transcripts from the SMN2 gene is of great importance for therapy approaches. Here, by use of in vivo splicing assays, we identified the protein hnRNP-G and its paralogue RBM as two novel splicing factors that promote the inclusion of SMN2 exon 7. Moreover, hnRNP-G and RBM non-specifically bind RNA, but directly and specifically bind Htra2-beta1, an SR-like splicing factor which we have previously shown to stimulate inclusion of exon 7 through a direct interaction with the AG-rich ESE in SMN2 exon 7 pre-mRNA. By using deletion mutants of hnRNP-G, we show that the specific protein-protein interaction of hnRNP-G with Htra2-beta1 mediates the inclusion of SMN2 exon 7 rather than the non-specific interaction of hnRNP-G with SMN pre-mRNA. Additionally, we show for the first time that recombinant trans-acting splicing factors such as hnRNP-G and Htra2-beta1 are also effective on endogenous SMN2 transcripts and increase the endogenous SMN protein level. Finally, we suggest a model of how the exon 7 mRNA processing is regulated by the splicing factors identified so far."xsd:string |
| http://purl.uniprot.org/citations/12165565 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/11.17.2037"xsd:string |
| http://purl.uniprot.org/citations/12165565 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/11.17.2037"xsd:string |
| http://purl.uniprot.org/citations/12165565 | http://purl.uniprot.org/core/author | "Wirth B."xsd:string |
| http://purl.uniprot.org/citations/12165565 | http://purl.uniprot.org/core/author | "Wirth B."xsd:string |
| http://purl.uniprot.org/citations/12165565 | http://purl.uniprot.org/core/author | "Hofmann Y."xsd:string |
| http://purl.uniprot.org/citations/12165565 | http://purl.uniprot.org/core/author | "Hofmann Y."xsd:string |
| http://purl.uniprot.org/citations/12165565 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
| http://purl.uniprot.org/citations/12165565 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
| http://purl.uniprot.org/citations/12165565 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |
| http://purl.uniprot.org/citations/12165565 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |
| http://purl.uniprot.org/citations/12165565 | http://purl.uniprot.org/core/pages | "2037-2049"xsd:string |
| http://purl.uniprot.org/citations/12165565 | http://purl.uniprot.org/core/pages | "2037-2049"xsd:string |
| http://purl.uniprot.org/citations/12165565 | http://purl.uniprot.org/core/title | "hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1."xsd:string |
| http://purl.uniprot.org/citations/12165565 | http://purl.uniprot.org/core/title | "hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1."xsd:string |
| http://purl.uniprot.org/citations/12165565 | http://purl.uniprot.org/core/volume | "11"xsd:string |
| http://purl.uniprot.org/citations/12165565 | http://purl.uniprot.org/core/volume | "11"xsd:string |
| http://purl.uniprot.org/citations/12165565 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/12165565 |
| http://purl.uniprot.org/citations/12165565 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/12165565 |
| http://purl.uniprot.org/citations/12165565 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/12165565 |
| http://purl.uniprot.org/citations/12165565 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/12165565 |
| http://purl.uniprot.org/uniprot/P62995 | http://purl.uniprot.org/core/citation | http://purl.uniprot.org/citations/12165565 |
| http://purl.uniprot.org/uniprot/P38159 | http://purl.uniprot.org/core/citation | http://purl.uniprot.org/citations/12165565 |