The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase

Proc Natl Acad Sci U S A. 1999 Feb 16;96(4):1315-20. doi: 10.1073/pnas.96.4.1315.

Abstract

Recently, the retinitis pigmentosa 3 (RP3) gene has been cloned and named retinitis pigmentosa GTPase regulator (RPGR). The amino-terminal half of RPGR is homologous to regulator of chromosome condensation (RCC1), the nucleotide exchange factor for the small GTP-binding protein Ran. In a yeast two-hybrid screen we identified the delta subunit of rod cyclic GMP phosphodiesterase (PDEdelta) as interacting with the RCC1-like domain (RLD) of RPGR (RPGR392). The interaction of RPGR with PDEdelta was confirmed by pull-down assays and plasmon surface resonance. The binding affinity was determined to be 90 nM. Six missense mutations at evolutionary conserved residues within the RLD, which were found in RP3 patients, were analyzed by using the two-hybrid system. All missense mutations showed reduced interaction with PDEdelta. A non-RP3-associated missense substitution outside the RLD, V36F, did not abolish the interaction with PDEdelta. PDEdelta is widely expressed and highly conserved across evolution and is proposed to regulate the membrane insertion or solubilization of prenylated proteins, including the catalytic subunits of the PDE holoenzyme involved in phototransduction and small GTP-binding proteins of the Rab family. These results suggest that RPGR mutations give rise to retinal degeneration by dysregulation of intracellular processes that determine protein localization and protein transport.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3',5'-Cyclic-AMP Phosphodiesterases / chemistry*
  • 3',5'-Cyclic-AMP Phosphodiesterases / metabolism*
  • Amino Acid Sequence
  • Animals
  • Carrier Proteins / genetics
  • Carrier Proteins / metabolism*
  • Cell Line
  • Cloning, Molecular
  • Conserved Sequence
  • Eye Proteins*
  • Humans
  • Kinetics
  • Macromolecular Substances
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Recombinant Proteins / chemistry
  • Recombinant Proteins / metabolism
  • Retinal Rod Photoreceptor Cells / enzymology*
  • Retinitis Pigmentosa / genetics
  • Retinitis Pigmentosa / metabolism
  • Saccharomyces cerevisiae
  • Sequence Alignment
  • Sequence Deletion
  • Sequence Homology, Amino Acid
  • Spodoptera
  • Transfection

Substances

  • Carrier Proteins
  • Eye Proteins
  • Macromolecular Substances
  • RPGR protein, human
  • Recombinant Proteins
  • 3',5'-Cyclic-AMP Phosphodiesterases