Genetic mapping demonstrates that the alpha-subunit of retinal cGMP-phosphodiesterase is not the site of the rd mutation

Exp Eye Res. 1990 Aug;51(2):185-9. doi: 10.1016/0014-4835(90)90071-2.

Abstract

In the inherited degenerative retinal disease of the rd mouse, rod cGMP levels rise above normal due to depressed cGMP-phosphodiesterase (cGMP-PDE) function a few days before degeneration begins. The subnormal activity of the cGMP-PDE may be due to a lesion in the enzyme itself, or in any of several proteins that regulate it. We have used a bovine cDNA for the alpha-subunit of cGMP-PDE to map its gene Pdea to mouse chromosome 18 at a distance of 21 centimorgans (cM) from the Mbp locus. Since the locus of the rd mutation is on mouse chromosome 5, a defect in the Pdea gene is ruled out as the cause of this inherited retinal degeneration.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • 3',5'-Cyclic-GMP Phosphodiesterases / genetics*
  • Animals
  • Chromosome Mapping*
  • Mice
  • Mice, Mutant Strains
  • Mutation*
  • Retina / enzymology*
  • Retinal Degeneration / enzymology
  • Retinal Degeneration / genetics*

Substances

  • 3',5'-Cyclic-GMP Phosphodiesterases