ArticleAmerican journal of human genetics1993
Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.
Article in American journal of human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 141 citations in OpenAlex.
- Article
- Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.Human molecular genetics · 2024Article
- Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin.Frontiers in genetics · 2023Article
- Different Phenotypes in Pseudodominant Inherited Retinal Dystrophies.Frontiers in cell and developmental biology · 2021Article
- Stereospecific modulation of dimeric rhodopsin.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
- Sector Retinitis Pigmentosa caused by mutations of the RHO gene.Eye (London, England) · 2019Article
- Coupling of Human Rhodopsin to a Yeast Signaling Pathway Enables Characterization of Mutations Associated with Retinal Disease.Genetics · 2019Article
- The Retinitis Pigmentosa-Linked Mutations in Transmembrane Helix 5 of Rhodopsin Disrupt Cellular Trafficking Regardless of Oligomerization State.Biochemistry · 2018Article
- The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.Progress in retinal and eye research · 2018Review
- Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.PloS one · 2017Article
- Dimerization deficiency of enigmatic retinitis pigmentosa-linked rhodopsin mutants.Nature communications · 2016Article
- Nonsense mutations in the rhodopsin gene that give rise to mild phenotypes trigger mRNA degradation in human cells by nonsense-mediated decay.Experimental eye research · 2016Article
- Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7.Scientific reports · 2016Article
- Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.PloS one · 2015Article
- Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.Human genetics · 2014Article
- Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.Investigative ophthalmology & visual science · 2013Article
- Structure and activation of rhodopsin.Acta pharmacologica Sinica · 2012Review
- Identification of two mutations of the RHO gene in two Chinese families with retinitis pigmentosa: correlation between genotype and phenotype.Molecular vision · 2012Article
- Spectrum of rhodopsin mutations in Korean patients with retinitis pigmentosa.Molecular vision · 2011Article
- Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.Investigative ophthalmology & visual science · 2010Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ten rhodopsin mutations have been found in a screen of 282 subjects with retinitis pigmentosa (RP), 76 subjects with Leber congenital amaurosis, and 3 subjects with congenital stationary night blindness. Eight of these mutations (gly51-to-ala, val104-to-ile, gly106-to-arg, arg135-to-gly, cys140-to-ser, gly188-to-glu, val209-to-met, and his211-to-arg) produce amino acid substitutions, one (gln64-to-ter) introduces a stop codon, and one changes a guanosine in the intron 4 consensus splice donor sequence to thymidine. Cosegregation of RP with gln64-to-ter, gly106-to-arg, arg135-to-gly, cys140-to-ser, gly188-to-glu, his211-to-arg, and the splice site guanosine-to-thymidine indicates that these mutations are likely to cause retinal disease. Val104-to-ile does not cosegregate and is therefore unlikely to be related to retinal disease. The relevance of gly51-to-ala and val209-to-met remains to be determined. The finding of gln64-to-ter in a family with autosomal dominant RP is in contrast to a recent report of a recessive disease phenotype associated with the rhodopsin mutation glu249-to-ter. In the present screen, all of the mutations that cosegregate with retinal disease were found among patients with RP. The mutations described here bring to 35 the total number of amino acid substitutions identified thus far in rhodopsin that are associated with RP. The distribution of the substitutions along the polypeptide chain is significantly nonrandom: 63% of the substitutions involve those 19% of amino acids that are identical among vertebrate visual pigments sequenced to date.
Indexed as
Identifiers
8317502PMC1682214W1603150403What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.