Recessive Mutations in the Gene Encoding the Beta-Subunit of Rod Phosphodiesterase in Patients With Retinitis Pigmentosa

Nat Genet. 1993 Jun;4(2):130-4. doi: 10.1038/ng0693-130.

Abstract

We have found four mutations in the human gene encoding the beta-subunit of rod cGMP phosphodiesterase (PDE beta) that cosegregate with autosomal recessive retinitis pigmentosa, a degenerative disease of photoreceptors. In one family two affected siblings both carry allelic nonsense mutations at codons 298 and 531. Affected individuals have abnormal rod and cone electroretinograms. PDE beta is the second member of the phototransduction cascade besides rhodopsin that is absent or altered as a cause of retinitis pigmentosa, suggesting that other members of this pathway may be defective in other forms of this disease.

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 / deficiency
  • 3',5'-Cyclic-GMP Phosphodiesterases / genetics*
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Codon
  • Cyclic Nucleotide Phosphodiesterases, Type 6
  • DNA Mutational Analysis
  • DNA, Single-Stranded / genetics
  • Disease Models, Animal
  • Dog Diseases / genetics
  • Dogs
  • Electroretinography
  • Eye Proteins / genetics*
  • Female
  • Genes, Recessive
  • Humans
  • Male
  • Mice
  • Mice, Mutant Strains / genetics
  • Molecular Sequence Data
  • Mutation*
  • Nucleic Acid Conformation
  • Pedigree
  • Phosphoric Diester Hydrolases*
  • Photoreceptor Cells / enzymology*
  • Photoreceptor Cells / physiology
  • Photoreceptor Cells / radiation effects
  • Polymorphism, Genetic
  • Retinal Degeneration / genetics
  • Retinal Dysplasia / genetics
  • Retinal Dysplasia / veterinary
  • Retinitis Pigmentosa / classification
  • Retinitis Pigmentosa / genetics*
  • Rhodopsin / genetics
  • Signal Transduction

Substances

  • Codon
  • DNA, Single-Stranded
  • Eye Proteins
  • Rhodopsin
  • Phosphoric Diester Hydrolases
  • 3',5'-Cyclic-GMP Phosphodiesterases
  • Cyclic Nucleotide Phosphodiesterases, Type 6
  • PDE6B protein, human
  • Pde6b protein, mouse