title: The gene for the gamma-subunit of retinal cGMP-phosphodiesterase is on mouse chromosome 11.
abstract: Mice carrying the rd mutation are affected with an autosomal recessive disease characterized by the total degeneration of retinal photoreceptor cells, which begins at postnatal day 8 and reaches completion by 3 wk of life. Biochemical studies have led to the proposal that a lesion in cGMP metabolism may be the cause of the rd photoreceptor degeneration, since cGMP reaches abnormally high levels in the rd retina a few days before the morphological pathology starts. The abnormal cGMP level is due to deficient cGMP-phosphodiesterase (cGMP-PDE) activity. A cDNA for the gamma-subunit of mouse cGMP-PDE has recently been cloned and characterized. We have mapped this cDNA to mouse chromosome 11 using a panel comprised of 19 hamster-mouse somatic cell hybrids by Southern blot hybridization. Our results suggest that the structural gene for the gamma-subunit of cGMP-PDE from mouse retina, which we have designated 'Pdeg', is not the primary defect in rd disease, as the locus of this genetic defect is on mouse chromosome 5.
authors.affiliation: Jules Stein Eye Institute, UCLA School of Medicine 90024-1771.
authors.forename: M
authors.initials: M
authors.lastname: Danciger
authors.forename: N
authors.initials: N
authors.lastname: Tuteja
authors.forename: C A
authors.initials: CA
authors.lastname: Kozak
authors.forename: D B
authors.initials: DB
authors.lastname: Farber
mesh_terms: D015106:3',5'-Cyclic-GMP Phosphodiesterases / Q000235:genetics*; D000818:Animals; D015139:Blotting, Southern; D002874:Chromosome Mapping; D015342:DNA Probes; D005796:Genes; D006822:Hybrid Cells; D051379:Mice; D008807:Mice, Inbred BALB C; D008817:Mice, Mutant Strains; D012160:Retina / Q000201:enzymology*; D012162:Retinal Degeneration / Q000235:genetics*
chemical_list: D015342:DNA Probes; D015106:3',5'-Cyclic-GMP Phosphodiesterases