A NULL MUTATION IN THE PHOTORECEPTOR GUANYLATE-CYCLASE GENE CAUSES THE RETINAL DEGENERATION CHICKEN PHENOTYPE

Citation
Sl. Semplerowland et al., A NULL MUTATION IN THE PHOTORECEPTOR GUANYLATE-CYCLASE GENE CAUSES THE RETINAL DEGENERATION CHICKEN PHENOTYPE, Proceedings of the National Academy of Sciences of the United Statesof America, 95(3), 1998, pp. 1271-1276
Citations number
36
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Multidisciplinary Sciences
ISSN journal
0027-8424
Volume
95
Issue
3
Year of publication
1998
Pages
1271 - 1276
Database
ISI
SICI code
0027-8424(1998)95:3<1271:ANMITP>2.0.ZU;2-K
Abstract
The retinas of the retinal degeneration (rd) chicken are fully develop ed and possess normal morphology at hatching but fail to respond to li ght stimulation. Analyses of retinal cGMP, the internal messenger of p hototransduction, show that the amount of cGMP in predegenerate, fully developed rd/rd photoreceptors is 5-10 times less than that seen in n ormal photoreceptor cells, We show that the low levels of cGMP in rd c hicken retina are a consequence of a null mutation in the photorecepto r guanylate cyclase (GC1) gene, Thus, the rd chicken is a model for hu man Leber's congenital amaurosis. Absence of GC1 in rd retina prevents phototransduction and affects survival of rods and cones but does not interfere with normal photoreceptor development.