Functional characterization of the human RPGR proximal promoter

Xinhua Shu, Julie R Simpson, Alan W Hart, Zhihong Zeng, Sarita Rani Patnaik, Philippe Gautier, Emma Murdoch, Brian Tulloch, Alan F Wright

Research output: Contribution to journalArticlepeer-review

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.
Original languageEnglish
Pages (from-to)3951-8
Number of pages8
JournalInvestigative Ophthalmology & Visual Science
Volume53
Issue number7
DOIs
Publication statusPublished - Jun 2012

Keywords

  • Animals
  • Retina
  • Humans
  • Electrophoretic Mobility Shift Assay
  • Disease Models, Animal
  • Mice
  • Mice, Transgenic
  • Transcriptional Activation
  • Guanine Nucleotide Exchange Factors
  • Regulatory Sequences, Nucleic Acid
  • Promoter Regions, Genetic
  • Eye Proteins
  • Transcription Factors
  • Retinitis Pigmentosa
  • Molecular Sequence Data
  • Gene Expression Regulation
  • Mutation
  • Cell Line
  • Female

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