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Please use this identifier to cite or link to this item: http://hdl.handle.net/2262/34473

Title:	RP1 Consortium. Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP
Author:	HUMPHRIES, PETER
Author's Homepage:	http://people.tcd.ie/phumphrs
Keywords:	RNAi, polymorphism, COL1A1, gene therapy, stem cell, Osteogenesis Imperfecta
Issue Date:	2003
Publisher:	Springer
Citation:	Daiger SP, Sullivan LS, Bowne SJ, Kennan A, Humphries P, Birch DG, Heckenlively JR ‘RP1 Consortium. Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP’ in Advances in Experimental Medicine and Biology, 533, 2003, pp 1 - 11
Series/Report no.:	Advances in Experimental Medicine and Biology 533
Abstract:	Given that mutant COL1A1 is known to cause Osteogenesis Imperfecta (OI), tools to modulate COL1A1 expression are likely to be of significant therapeutic value. In this context, we have evaluated RNA interference (RNAi) as a means to downregulate COL1A1 expression in Cos-7 cells and in human mesenchymal progenitor stem cells (MPCs), the latter cells giving rise to bone and therefore representing a target cell type for collagen-related disorders. In addition, allele-specificity, a key factor to the success of RNAi-based suppression, was explored with a view to developing a mutation-independent RNAi-based therapeutic for OI by targeting an intragenic SNP within transcripts derived from the COL1A1 gene. Preferential suppression of individual polymorphic alleles that differed by a single nucleotide was observed.
Description:	PUBLISHED
URI:	http://hdl.handle.net/2262/34473
Appears in Collections:	Genetics (Scholarly Publications)

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Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP.pdf	published (publisher copy) peer-reviewed	666Kb	Adobe PDF	View/Open

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