| http://purl.uniprot.org/citations/18794368 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18794368 | http://www.w3.org/2000/01/rdf-schema#comment | "Spinal muscular atrophy (SMA) is a recessive neuromuscular disorder caused by the homozygous loss of the SMN1 gene. The human SMN2 gene has a C-to-T transition at position +6 of exon 7 and thus produces exon 7-skipping mRNAs. However, we observed an unexpectedly high level of exon 7-containing SMN2 transcripts as well as SMN protein in testis of smn(-/-) SMN2 transgenic mice. Using affinity chromatography, we identified several SMN RNA-associating proteins in mouse testis and human HeLa cells, including hnRNP Q. The major hnRNP Q isoform, Q1, directly bound SMN exon 7 in the vicinity of nucleotide +6. Overexpression of hnRNP Q1 promoted the inclusion of exon 7 in SMN2, probably by activating the use of its upstream 3' splice site. However, the minor isoforms Q2/Q3 could antagonize the activity of hnRNP Q1 and induced exon 7 exclusion. Intriguingly, enhanced exon 7 inclusion was also observed upon concomitant depletion of three hnRNP Q isoforms. Thus, differential expression of hnRNP Q isoforms may result in intricate control of SMN precursor mRNA splicing. Here, we demonstrate that hnRNP Q is a splicing modulator of SMN, further underscoring the potential of hnRNP Q as a therapeutic target for SMA."xsd:string |
| http://purl.uniprot.org/citations/18794368 | http://purl.org/dc/terms/identifier | "doi:10.1128/mcb.01332-08"xsd:string |
| http://purl.uniprot.org/citations/18794368 | http://purl.uniprot.org/core/author | "Chang J.G."xsd:string |
| http://purl.uniprot.org/citations/18794368 | http://purl.uniprot.org/core/author | "Chen H.H."xsd:string |
| http://purl.uniprot.org/citations/18794368 | http://purl.uniprot.org/core/author | "Tarn W.Y."xsd:string |
| http://purl.uniprot.org/citations/18794368 | http://purl.uniprot.org/core/author | "Lu R.M."xsd:string |
| http://purl.uniprot.org/citations/18794368 | http://purl.uniprot.org/core/author | "Peng T.Y."xsd:string |
| http://purl.uniprot.org/citations/18794368 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18794368 | http://purl.uniprot.org/core/name | "Mol Cell Biol"xsd:string |
| http://purl.uniprot.org/citations/18794368 | http://purl.uniprot.org/core/pages | "6929-6938"xsd:string |
| http://purl.uniprot.org/citations/18794368 | http://purl.uniprot.org/core/title | "The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene."xsd:string |
| http://purl.uniprot.org/citations/18794368 | http://purl.uniprot.org/core/volume | "28"xsd:string |
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