title: Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase.
abstract: Mice homozygous for the rd mutation display hereditary retinal degeneration and the classic rd lines serve as a model for human retinitis pigmentosa. In affected animals the retinal rod photoreceptor cells begin degenerating at about postnatal day 8, and by four weeks no photoreceptors are left. Degeneration is preceded by accumulation of cyclic GMP in the retina and is correlated with deficient activity of the rod photoreceptor cGMP-phosphodiesterase. We have recently isolated a candidate complementary DNA for the rd gene from a mouse retinal library and completed the characterization of cDNAs encoding all subunits of bovine photoreceptor phosphodiesterase. The candidate cDNA shows strong homology with a cDNA encoding the bovine phosphodiesterase beta subunit. Here we present evidence that the candidate cDNA is the murine homologue of bovine phosphodiesterase beta cDNA. We conclude that the mouse rd locus encodes the rod photoreceptor cGMP-phosphodiesterase beta subunit.
authors.affiliation: Jules Stein Eye Institute, University of California, School of Medicine, Los Angeles 90024.
authors.forename: C
authors.initials: C
authors.lastname: Bowes
authors.forename: T
authors.initials: T
authors.lastname: Li
authors.forename: M
authors.initials: M
authors.lastname: Danciger
authors.forename: L C
authors.initials: LC
authors.lastname: Baxter
authors.forename: M L
authors.initials: ML
authors.lastname: Applebury
authors.forename: D B
authors.initials: DB
authors.lastname: Farber
mesh_terms: D015106:3',5'-Cyclic-GMP Phosphodiesterases / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D006152:Cyclic GMP / Q000378:metabolism; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D015342:DNA Probes; D051379:Mice; D008807:Mice, Inbred BALB C; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains; D008969:Molecular Sequence Data; D009693:Nucleic Acid Hybridization; D010786:Photoreceptor Cells / Q000201:enzymology; D012150:Polymorphism, Restriction Fragment Length; D012160:Retina / Q000201:enzymology; D012162:Retinal Degeneration / Q000201:enzymology / Q000235:genetics*
chemical_list: D015342:DNA Probes; D004247:DNA; D015106:3',5'-Cyclic-GMP Phosphodiesterases; D006152:Cyclic GMP