| pubmed-article:18586677 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:18586677 | lifeskim:mentions | umls-concept:C0390113 | lld:lifeskim |
| pubmed-article:18586677 | lifeskim:mentions | umls-concept:C1332114 | lld:lifeskim |
| pubmed-article:18586677 | lifeskim:mentions | umls-concept:C0271561 | lld:lifeskim |
| pubmed-article:18586677 | lifeskim:mentions | umls-concept:C0035687 | lld:lifeskim |
| pubmed-article:18586677 | lifeskim:mentions | umls-concept:C0001752 | lld:lifeskim |
| pubmed-article:18586677 | lifeskim:mentions | umls-concept:C0036720 | lld:lifeskim |
| pubmed-article:18586677 | lifeskim:mentions | umls-concept:C1419989 | lld:lifeskim |
| pubmed-article:18586677 | lifeskim:mentions | umls-concept:C1419992 | lld:lifeskim |
| pubmed-article:18586677 | lifeskim:mentions | umls-concept:C0680011 | lld:lifeskim |
| pubmed-article:18586677 | lifeskim:mentions | umls-concept:C1551336 | lld:lifeskim |
| pubmed-article:18586677 | pubmed:issue | 35 | lld:pubmed |
| pubmed-article:18586677 | pubmed:dateCreated | 2008-8-25 | lld:pubmed |
| pubmed-article:18586677 | pubmed:abstractText | The majority of mutations that cause isolated growth hormone deficiency type II are the result of aberrant splicing of transcripts encoding human growth hormone. Such mutations increase skipping of exon 3 and encode a 17.5-kDa protein that acts as a dominant negative to block secretion of full-length protein produced from unaffected alleles. Previously, we identified a splicing regulatory element in exon 3 (exonic splicing enhancer 2 (ESE2)), but we had not determined the molecular mechanism by which this element prevents exon skipping. Here, we show that two members of the serine/arginine-rich (SR) protein superfamily (ASF/SF2 and SC35) act antagonistically to regulate exon 3 splicing. ASF/SF2 activates exon 3 inclusion, but SC35, acting through a region just downstream of ESE2, can block such activation. These findings explain the disease-causing mechanism of a patient mutation in ESE2 that creates a functional SC35-binding site that then acts synergistically with the downstream SC35 site to produce pathological levels of exon 3 skipping. Although the precedent for SR proteins acting as repressors is established, this is the first example of a patient mutation that creates a site through which an SR protein represses splicing. | lld:pubmed |
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| pubmed-article:18586677 | pubmed:language | eng | lld:pubmed |
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| pubmed-article:18586677 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:18586677 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:18586677 | pubmed:month | Aug | lld:pubmed |
| pubmed-article:18586677 | pubmed:issn | 0021-9258 | lld:pubmed |
| pubmed-article:18586677 | pubmed:author | pubmed-author:PhillipsJohn... | lld:pubmed |
| pubmed-article:18586677 | pubmed:author | pubmed-author:PengRuiR | lld:pubmed |
| pubmed-article:18586677 | pubmed:author | pubmed-author:PattonJames... | lld:pubmed |
| pubmed-article:18586677 | pubmed:author | pubmed-author:CrawfordJ... | lld:pubmed |
| pubmed-article:18586677 | pubmed:author | pubmed-author:SolisAmanda... | lld:pubmed |
| pubmed-article:18586677 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:18586677 | pubmed:day | 29 | lld:pubmed |
| pubmed-article:18586677 | pubmed:volume | 283 | lld:pubmed |
| pubmed-article:18586677 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:18586677 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:18586677 | pubmed:pagination | 23619-26 | lld:pubmed |
| pubmed-article:18586677 | pubmed:dateRevised | 2011-11-17 | lld:pubmed |
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| pubmed-article:18586677 | pubmed:meshHeading | pubmed-meshheading:18586677... | lld:pubmed |
| pubmed-article:18586677 | pubmed:year | 2008 | lld:pubmed |
| pubmed-article:18586677 | pubmed:articleTitle | Growth hormone deficiency and splicing fidelity: two serine/arginine-rich proteins, ASF/SF2 and SC35, act antagonistically. | lld:pubmed |
| pubmed-article:18586677 | pubmed:affiliation | Department of Biological Sciences, Vanderbilt University, 2301 Vanderbilt Pl., Nashville, TN 37235, USA. | lld:pubmed |
| pubmed-article:18586677 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:18586677 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
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