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pubmed-article:11753647pubmed:abstractTextHuman ovarian cancer cells and tissues were examined for the presence or absence of a 42-bp splicing variant of ERCC1 gene, and for a possible functional role of this 42-bp sequence. This specific sequence exists in exon I, the 5'-UTR of the gene. Loss of this 42-bp sequence was associated with increased ERCC1 mRNA expression, in an assessment of 121 ovarian cancer specimens (p2<10(-6)). In cells in tissue culture, the absence of the 42-bp segment was associated with a twofold increased ability to drive transcription in a Luciferase reporter system. Protein can be demonstrated in ovarian cancer cells based on EMSA analysis. Computer analysis shows that this 42-bp sequence contains several binding sites, including a core-binding domain for protein RFX1, transcriptional repressor. These preliminary results lay the groundwork in determination of potential roles for a negative regulatory element in NER repair pathway.lld:pubmed
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pubmed-article:11753647pubmed:articleTitleAn ERCC1 splicing variant involving the 5'-UTR of the mRNA may have a transcriptional modulatory function.lld:pubmed
pubmed-article:11753647pubmed:affiliationWest Virginia University, Mary Babb Randolph Cancer Center, Robert C. Byrd Health Sciences Center, 1801 Health Sciences South, P.O. Box 9300, Morgantown, WV 26506-9300, USA.lld:pubmed
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