Abstract:
:Mice carrying the autosomal recessive rd gene experience total degeneration of the photoreceptor cells of the retina by 3 to 4 weeks of life. Biochemical studies of the rd retina have demonstrated a lesion in cyclic guanosine monophosphate (cGMP) metabolism due to depressed rod-specific cGMP-phosphodiesterase (cGMP-PDE) activity. The depressed activity could result from, among other things, a lesion in the cGMP-PDE enzyme itself or in any of a number of proteins in the rod that regulate it. We have used a cDNA clone for the alpha-subunit of bovine rod transducin (T alpha 1) to map the corresponding gene, Gnat-1, to mouse chromosome 9 with a panel of Chinese hamster-mouse somatic cell hybrid DNAs. Transducin, a heterotrimeric G protein, is involved in the stimulation of cGMP-PDE when light hits the rod photoreceptors. Since the primary defect in rd disease occurs in a gene(s) on mouse chromosome 5, our results suggest that Gnat-1 is not the rd gene.
journal_name
Genomicsjournal_title
Genomicsauthors
Danciger M,Kozak CA,Farber DBdoi
10.1016/0888-7543(89)90303-0subject
Has Abstractpub_date
1989-02-01 00:00:00pages
215-7issue
2eissn
0888-7543issn
1089-8646pii
0888-7543(89)90303-0journal_volume
4pub_type
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