Retinal Function and Rhodopsin Levels in Autosomal Dominant Retinitis Pigmentosa With Rhodopsin Mutations

Jacobson, Samuel G.; Kemp, Colin M.; Sung, Ching-Hwa; Nathans, Jeremy

doi:10.1016/s0002-9394(14)76726-1

Cited by 149 publications

(57 citation statements)

References 19 publications

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“…We have reported a Japanese patient with Thr-17-Met mutation previously which showed also a pigmentary degeneration mainly in the inferior part of the fundus, with a corresponding loss of the visual field in the superior part (Hayakawa et aI., 1993). There are similar cases of different racial backgrounds (Jacobson et al, 1991 ;Fishman et al, 1992a;Li et al, 1994). The present case of Ash-15-Set mutation has almost the same sectorial-like type.…”

Section: Discussionsupporting

confidence: 57%

Missense mutation of rhodopsin gene codon 15 found in Japanese autosomal dominant retinitis pigmentosa

et al. 1995

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SummaryHeterozygous missense mutation in codon 15 of the rhodopsin gene was detected in a patient with autosomal dominant retinitis pigmentosa (ADRP), where a transition of adenine to guanine at the second nucleotide in codon 15 (AAT~AGT), corresponding to a substitution of serine residue for asparagine residue (Asn-15-Ser) was detected. None of the remaining unrelated 42 ADRP, 24 autosomal recessive RP (ARRP) and 34 normal individuals had this alteration. Her funduscopic findings were sectorial in type similar to that of the patients with the same mutation found in an Australian pedigree (Sullivan et al., 1993). This study shows phenotypic similarities in patients with the same mutation of a different ancestry.

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Section: Discussionsupporting

confidence: 57%

Missense mutation of rhodopsin gene codon 15 found in Japanese autosomal dominant retinitis pigmentosa

et al. 1995

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“…His electroretinographic responses were more pronounced than usually encountered in other forms of retinitis pigmentosa. His ocular findings were different from those of the patients with Pro-347-Leu mutation and showed almost the same phenomena as those of the cases with Thr-17-Met mutation in the United States reported by Jacobson et al (1991) and Fishman et al (1992).…”

Section: Discussioncontrasting

confidence: 43%

Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)

et al. 1992

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SummaryThe mutations of codon 17, 23, 58, and 347 of rhodopsin gene were investigated in 24 unrelated Japanese families including 33 patients with autosomal dominant retinitis pigmentosa (ADRP). A patient with codon 17 mutation (Thr-17-Met, ACG~ATG) and a family including 4 patients with codon 347 mutation (Pro-347-Leu, CCG--,CTG) were detected among them. Their clinical findings were extremely different between the two mutations. The former showed type 2 and the latter showed type 1 ADRP. No mutation of codon 23 and 58 was detected in any families so far analyzed in the present study. Clinical findings associated with the mutation in codon 17 and 347 of the rhodopsin gene show an existence of allelic heterogeneity.

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“…Using the heterologous expression system, these mutants can be classified into three classes: Class I is defective in photoactivation rearrangements, class II remains in the endoplasmic reticulum and does not bind the chromophore, and class III is expressed at low levels and poorly binds chromophore, suggesting a problem with folding and stability (82,106,107). Here, we analyze some of these mutants considering the crystal structure of rhodopsin.…”

Section: Human Diseases Associated With Mutation In the Rhodopsin Genementioning

confidence: 99%

G Protein-Coupled Receptor Rhodopsin: A Prospectus

Filipek

Stenkamp

Teller

et al. 2003

Annu. Rev. Physiol.

227

196

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Rhodopsin is a retinal photoreceptor protein of bipartite structure consisting of the transmembrane protein opsin and a light-sensitive chromophore 11-cis-retinal, linked to opsin via a protonated Schiff base. Studies on rhodopsin have unveiled many structural and functional features that are common to a large and pharmacologically important group of proteins from the G protein-coupled receptor (GPCR) superfamily, of which rhodopsin is the best-studied member. In this work, we focus on structural features of rhodopsin as revealed by many biochemical and structural investigations. In particular, the high-resolution structure of bovine rhodopsin provides a template for understanding how GPCRs work. We describe the sensitivity and complexity of rhodopsin that lead to its important role in vision.

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Retinal Function and Rhodopsin Levels in Autosomal Dominant Retinitis Pigmentosa With Rhodopsin Mutations

Cited by 149 publications

References 19 publications

Missense mutation of rhodopsin gene codon 15 found in Japanese autosomal dominant retinitis pigmentosa

Missense mutation of rhodopsin gene codon 15 found in Japanese autosomal dominant retinitis pigmentosa

Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)

G Protein-Coupled Receptor Rhodopsin: A Prospectus

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