Publication Date:
1996-05-17
Description:
The retinal cyclic guanosine 3',5'-monophosphate (cGMP) phosphodiesterase (PDE) is a key regulator of phototransduction in the vertebrate visual system. PDE consists of a catalytic core of alpha and beta subunits associated with two inhibitory gamma subunits. A gene-targeting approach was used to disrupt the mouse PDEgamma gene. This mutation resulted in a rapid retinal degeneration resembling human retinitis pigmentosa. In homozygous mutant mice, reduced rather than increased PDE activity was apparent; the PDEalphabeta dimer was formed but lacked hydrolytic activity. Thus, the inhibitory gamma subunit appears to be necessary for integrity of the photoreceptors and expression of PDE activity in vivo.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2757426/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉 〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2757426/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Tsang, S H -- Gouras, P -- Yamashita, C K -- Kjeldbye, H -- Fisher, J -- Farber, D B -- Goff, S P -- EY08285/EY/NEI NIH HHS/ -- K08 EY000408/EY/NEI NIH HHS/ -- K08 EY000408-01/EY/NEI NIH HHS/ -- T32 GM 073667-14/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 1996 May 17;272(5264):1026-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Howard Hughes Medical Institute, Department of Biochemistry and Molecular Biophysics, Columbia University, College of Physicians and Surgeons, New York 10032, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/8638127" target="_blank"〉PubMed〈/a〉
Keywords:
3',5'-Cyclic-GMP Phosphodiesterases/deficiency/genetics/*metabolism
;
Animals
;
Base Sequence
;
Chimera
;
Crosses, Genetic
;
Cyclic GMP/*metabolism
;
Electroretinography
;
Enzyme Activation
;
Female
;
Gene Targeting
;
Humans
;
Light
;
Male
;
Mice
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Mice, Inbred C57BL
;
Molecular Sequence Data
;
Mutation
;
Phenotype
;
Retina/metabolism/*pathology/physiopathology
;
Retinal Degeneration/*enzymology/pathology/physiopathology
;
Retinal Rod Photoreceptor Cells/*enzymology/metabolism/pathology
;
Retinitis Pigmentosa/pathology
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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