| http://purl.uniprot.org/citations/12145749 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12145749 | http://www.w3.org/2000/01/rdf-schema#comment | "Ehlers-Danlos syndrome (EDS) type I (the classical variety) is a dominantly inherited, genetically heterogeneous connective-tissue disorder. Mutations in the COL5A1 and COL5A2 genes, which encode type V collagen, have been identified in several individuals. Most mutations affect either the triple-helical domain of the protein or the expression of one COL5A1 allele. We identified a novel splice-acceptor mutation (IVS4-2A-->G) in the N-propeptide-encoding region of COL5A1, in one patient with EDS type I. The outcome of this mutation was complex: In the major product, both exons 5 and 6 were skipped; other products included a small amount in which only exon 5 was skipped and an even smaller amount in which cryptic acceptor sites within exon 5 were used. All products were in frame. Pro-alpha1(V) chains with abnormal N-propeptides were secreted and were incorporated into extracellular matrix, and the mutation resulted in dramatic alterations in collagen fibril structure. The two-exon skip occurred in transcripts in which intron 5 was removed rapidly relative to introns 4 and 6, leaving a large (270 nt) composite exon that can be skipped in its entirety. The transcripts in which only exon 5 was skipped were derived from those in which intron 6 was removed prior to intron 5. The use of cryptic acceptor sites in exon 5 occurred in transcripts in which intron 4 was removed subsequent to introns 5 and 6. These findings suggest that the order of intron removal plays an important role in the outcome of splice-site mutations and provide a model that explains why multiple products derive from a mutation at a single splice site."xsd:string |
| http://purl.uniprot.org/citations/12145749 | http://purl.org/dc/terms/identifier | "doi:10.1086/342099"xsd:string |
| http://purl.uniprot.org/citations/12145749 | http://purl.uniprot.org/core/author | "Takahara K."xsd:string |
| http://purl.uniprot.org/citations/12145749 | http://purl.uniprot.org/core/author | "Imamura Y."xsd:string |
| http://purl.uniprot.org/citations/12145749 | http://purl.uniprot.org/core/author | "Byers P.H."xsd:string |
| http://purl.uniprot.org/citations/12145749 | http://purl.uniprot.org/core/author | "Greenspan D.S."xsd:string |
| http://purl.uniprot.org/citations/12145749 | http://purl.uniprot.org/core/author | "Schwarze U."xsd:string |
| http://purl.uniprot.org/citations/12145749 | http://purl.uniprot.org/core/author | "Smith L.T."xsd:string |
| http://purl.uniprot.org/citations/12145749 | http://purl.uniprot.org/core/author | "Hoffman G.G."xsd:string |
| http://purl.uniprot.org/citations/12145749 | http://purl.uniprot.org/core/author | "Toriello H."xsd:string |
| http://purl.uniprot.org/citations/12145749 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
| http://purl.uniprot.org/citations/12145749 | http://purl.uniprot.org/core/name | "Am J Hum Genet"xsd:string |
| http://purl.uniprot.org/citations/12145749 | http://purl.uniprot.org/core/pages | "451-465"xsd:string |
| http://purl.uniprot.org/citations/12145749 | http://purl.uniprot.org/core/title | "Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I."xsd:string |
| http://purl.uniprot.org/citations/12145749 | http://purl.uniprot.org/core/volume | "71"xsd:string |
| http://purl.uniprot.org/citations/12145749 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/12145749 |
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