| pubmed-article:18806275 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:18806275 | lifeskim:mentions | umls-concept:C0015127 | lld:lifeskim |
| pubmed-article:18806275 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:18806275 | lifeskim:mentions | umls-concept:C0751882 | lld:lifeskim |
| pubmed-article:18806275 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
| pubmed-article:18806275 | lifeskim:mentions | umls-concept:C0015295 | lld:lifeskim |
| pubmed-article:18806275 | lifeskim:mentions | umls-concept:C1413401 | lld:lifeskim |
| pubmed-article:18806275 | lifeskim:mentions | umls-concept:C1167622 | lld:lifeskim |
| pubmed-article:18806275 | lifeskim:mentions | umls-concept:C2349975 | lld:lifeskim |
| pubmed-article:18806275 | lifeskim:mentions | umls-concept:C0752689 | lld:lifeskim |
| pubmed-article:18806275 | pubmed:issue | 24 | lld:pubmed |
| pubmed-article:18806275 | pubmed:dateCreated | 2008-11-27 | lld:pubmed |
| pubmed-article:18806275 | pubmed:abstractText | In humans and great apes, CHRNA1 encoding the muscle nicotinic acetylcholine receptor alpha subunit carries an inframe exon P3A, the inclusion of which yields a nonfunctional alpha subunit. In muscle, the P3A(-) and P3A(+) transcripts are generated in a 1:1 ratio but the functional significance and regulation of the alternative splicing remain elusive. An intronic mutation (IVS3-8G>A), identified in a patient with congenital myasthenic syndrome, disrupts an intronic splicing silencer (ISS) and results in exclusive inclusion of the downstream P3A exon. We found that the ISS-binding splicing trans-factor was heterogeneous nuclear ribonucleoprotein (hnRNP) H and the mutation attenuated the affinity of hnRNP for the ISS approximately 100-fold. We next showed that direct placement of hnRNP H to the 3' end of intron 3 silences, and siRNA-mediated downregulation of hnRNP H enhances recognition of exon P3A. Analysis of the human genome suggested that the hnRNPH-binding UGGG motif is overrepresented close to the 3' ends of introns. Pursuing this clue, we showed that alternative exons of GRIP1, FAS, VPS13C and NRCAM are downregulated by hnRNP H. Our findings imply that the presence of the hnRNP H-binding motif close to the 3' end of an intron is an essential but underestimated splicing regulator of the downstream exon. | lld:pubmed |
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| pubmed-article:18806275 | pubmed:language | eng | lld:pubmed |
| pubmed-article:18806275 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18806275 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:18806275 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:18806275 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:18806275 | pubmed:month | Dec | lld:pubmed |
| pubmed-article:18806275 | pubmed:issn | 1460-2083 | lld:pubmed |
| pubmed-article:18806275 | pubmed:author | pubmed-author:EngelAndrew... | lld:pubmed |
| pubmed-article:18806275 | pubmed:author | pubmed-author:OhnoKinjiK | lld:pubmed |
| pubmed-article:18806275 | pubmed:author | pubmed-author:ShenXin-MingX... | lld:pubmed |
| pubmed-article:18806275 | pubmed:author | pubmed-author:MatsuuraTohru... | lld:pubmed |
| pubmed-article:18806275 | pubmed:author | pubmed-author:ItoMikakoM | lld:pubmed |
| pubmed-article:18806275 | pubmed:author | pubmed-author:MasudaAkioA | lld:pubmed |
| pubmed-article:18806275 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:18806275 | pubmed:day | 15 | lld:pubmed |
| pubmed-article:18806275 | pubmed:volume | 17 | lld:pubmed |
| pubmed-article:18806275 | pubmed:owner | NLM | lld:pubmed |
