2004
DOI: 10.1002/cne.20283
|View full text |Cite
|
Sign up to set email alerts
|

Retinal abnormalities associated with the G90D mutation in opsin

Abstract: Several mutations in the opsin gene have been associated with congenital stationary night blindness, considered to be a relatively nonprogressive disorder. In the present study, we examined the structural and functional changes induced by one of these mutations, i.e., substitution of aspartic acid for glycine at position 90 (G90D). Transgenic mice were created in which the ratio of transgenic opsin transcript to endogenous was 0.5:1, 1.7:1, or 2.5:1 and were studied via light and electron microscopy, immunocyt… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
1
1
1

Citation Types

0
29
0

Year Published

2007
2007
2016
2016

Publication Types

Select...
5
4

Relationship

2
7

Authors

Journals

citations
Cited by 32 publications
(29 citation statements)
references
References 43 publications
0
29
0
Order By: Relevance
“…The mutant proteins are thought to be synthesized normally in rod cells. For example, the G90D variant accumulates exclusively within rod outer segments in mouse models, 91,92 although in vitro studies suggest a trafficking defect. 21 CSNB mutations alter the protein environment near the covalent linkage between retinal and opsin, [83][84][85]87 yielding a protein conformation that constitutively activates the visual signaling pathway in the presence or in the absence of retinal and decreasing the sensitivity of the rod cell to light.…”
Section: Discussionmentioning
confidence: 97%
“…The mutant proteins are thought to be synthesized normally in rod cells. For example, the G90D variant accumulates exclusively within rod outer segments in mouse models, 91,92 although in vitro studies suggest a trafficking defect. 21 CSNB mutations alter the protein environment near the covalent linkage between retinal and opsin, [83][84][85]87 yielding a protein conformation that constitutively activates the visual signaling pathway in the presence or in the absence of retinal and decreasing the sensitivity of the rod cell to light.…”
Section: Discussionmentioning
confidence: 97%
“…Thus, the KO model of HRG4 has revealed a likely second, new function of HRG4, present and important in the IS/OS region and uniquely highlighted because of the specific phenotype its absence produces in the KO. The KO and TG models of various retina-expressed proteins, such as rhodsopsin, cGMP-phosphodiesterase gamma, arrestin, transducin alpha, RPE65, peripherin/rds, retinol dehydrogenase, TrkB receptor, and interphotoreceptor retinoidbinding protein (IRBP), have been invaluable in understanding their function and pathogenic mechanism of retinal dysfunction they can cause (Lee et al, 2006;Burns et al, 2006;Naash et al, 2004;Maeda et al, 2005;Fan et al, 2003;Jones et al, 2003;Rohrer, 2001;Calvert et al, 2000Calvert et al, , 2001Frederick et al, 2001;Ripps et al, 2000;Palczewski et al, 1999;Lem et al, 1999;Tsang et al, 1998;Humphries et al, 1997). Similarly, the KO model should be invaluable in elucidating the putative new function of HRG4 in the distal end of photoreceptors, and in combination with the TG model which shows synaptic degeneration at the proximal end of photoreceptors (Kobayashi et al, 2000;Mori et al, 2006), should help us to understand the dual function of HRG4.…”
Section: Discussionmentioning
confidence: 99%
“…RP is a progressive form of blindness that severely impairs the visual field, whereas CSNB is a much milder and often precursor form affecting only dim light vision. In CSNB patients [9][10][11][12] and mouse models of the disease [13][14][15], the rhodopsin-containing rod cells are functionally desensitized as if under constant activation at low gain. This increased dark activity has been suggested to result from a faster rate of thermal isomerization [9], the presence of constitutively active opsin [7] or of a pre-activated dark state [14], or simply a reduction in the amount of photoexcitable pigment [15].…”
Section: à11mentioning
confidence: 99%