PMID: 9448321Mar 14, 1998Paper

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 States of America
S L Semple-RowlandW Baehr

Abstract

The retinas of the retinal degeneration (rd) chicken are fully developed and possess normal morphology at hatching but fail to respond to light stimulation. Analyses of retinal cGMP, the internal messenger of phototransduction, show that the amount of cGMP in predegenerate, fully developed rd/rd photoreceptors is 5-10 times less than that seen in normal photoreceptor cells. We show that the low levels of cGMP in rd chicken retina are a consequence of a null mutation in the photoreceptor guanylate cyclase (GC1) gene. Thus, the rd chicken is a model for human 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.

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Citations

Mar 21, 2000·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·K PalczewskiJ B Ames
Dec 17, 2009·Molecular and Cellular Biochemistry·Sukanya KaranWolfgang Baehr
Apr 3, 2004·Trends in Molecular Medicine·Janis Lem, Gordon L Fain
Aug 6, 2002·Survey of Ophthalmology·Sascha FauserFrank Schüttauf
Jul 5, 2003·Vision Research·Fabiano Montiani-FerreiraSimon Petersen-Jones
Mar 8, 2003·Ophthalmology·Ann H MilamSamuel G Jacobson
Jul 17, 1999·Brain Research. Molecular Brain Research·P LarkinS L Semple-Rowland
Jun 14, 2000·Clinical Genetics·G ClarkeR R McInnes
Mar 2, 2012·European Journal of Human Genetics : EJHG·Hadas Stiebel-KalishMichael Bach
Feb 28, 2002·The European Journal of Neuroscience·Yoshikazu ImanishiKrzysztof Palczewski
Jan 27, 2007·The Journal of Biological Chemistry·Wolfgang BaehrKrzysztof Palczewski
Jul 25, 2000·The British Journal of Ophthalmology·F HafeziC E Remé
Feb 22, 2001·Annual Review of Physiology·B Wedel, D Garbers
Mar 26, 2005·Investigative Ophthalmology & Visual Science·Izabela SokalWolfgang Baehr
Sep 3, 2010·The Journal of Clinical Investigation·Anneke I den HollanderFrans P M Cremers
Jun 8, 2010·BMC Genomics·Xiaofei WangNathaniel Adefope
Apr 12, 2014·Stem Cells and Development·Yangqing LuSteven L Stice
Sep 16, 2009·Veterinary Ophthalmology·Anna-Carin KarlssonPer Jensen
Feb 26, 2000·Annual Review of Genetics·A RattnerJ Nathans
May 6, 2015·Progress in Retinal and Eye Research·Ralph W N SlijkermanRob W J Collin
Apr 21, 2009·Vision Research·Wolfgang Baehr, Jeanne M Frederick
May 27, 2014·Frontiers in Molecular Neuroscience·Shannon E Boye
Apr 11, 2017·Molecular Therapy : the Journal of the American Society of Gene Therapy·Jean Bennett
Apr 2, 2017·Progress in Retinal and Eye Research·Suzanne BroadgateStephanie Halford
Sep 22, 2015·The Journal of Pathology·Corinne Kostic, Yvan Arsenijevic
Oct 3, 2018·Journal of Wildlife Diseases·Bret A MooreSteven R Hollingsworth
Mar 21, 2006·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·Gordon L Fain

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