Functional characterization of the human RPGR proximal promoter.

Investigative Ophthalmology & Visual Science
Xinhua ShuAlan F Wright

Abstract

Mutations in the retinitis pigmentosa (RP) GTPase regulator (RPGR) gene account for more than 70% of X-linked RP cases. This study aims to characterize the proximal promoter region of the human RPGR gene. The 5'-flanking region (5 kb) of human RPGR was cloned and sequenced. A potential transcription start site and transcription factor binding motifs were identified by bioinformatic analysis. Constructs containing the putative human RPGR promoter region upstream of a luciferase reporter gene were generated and analyzed by transient transfection and luciferase assays. Transgenic mouse lines carrying a 3-kb human RPGR promoter sequence fused to lacZ were generated and RPGR proximal promoter activity was analyzed by X-gal staining. Bioinformatic analyses of the human RPGR 5'-flanking region uncovered potential transcription factor binding sites and a CpG island. Transient transfection assays with RPGR promoter/luciferase reporter constructs revealed a 980-bp fragment (-952 to +28) that produced higher levels of luciferase activity. Mutagenesis identified a putative Sp1 binding site that was critical for regulating transcriptional activity. We generated transgenic mice in which a lacZ reporter gene was controlled by the 3-kb upstrea...Continue Reading

Citations

Jul 19, 2012·Investigative Ophthalmology & Visual Science·Wei Chieh HuangSamuel G Jacobson
Jan 12, 2013·Translational Research : the Journal of Laboratory and Clinical Medicine·Michelle E McClements, Robert E MacLaren
Jun 21, 2015·Experimental Eye Research·Roly D MegawAlan F Wright

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