Dominant, gain-of-function mutant produced by truncation of RPGR.

  title={Dominant, gain-of-function mutant produced by truncation of RPGR.},
  author={D H Hong and Basil S. Pawlyk and Michael Adamian and Tiansen Li},
  journal={Investigative ophthalmology & visual science},
  volume={45 1},
PURPOSE The retinitis pigmentosa GTPase regulator (RPGR) is essential in the maintenance of photoreceptor viability. Mutations in the X-linked RPGR gene have generally been assumed to be recessive. This study was undertaken to investigate whether certain mutant RPGR alleles may act dominantly. METHODS An RPGR transgene representing the RPGR ORF15 variant was placed under a non-tissue-specific promoter and introduced into transgenic mice. The transgene was crossed into both a wild type (WT… CONTINUE READING


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