Autosomal dominant retinitis pigmentosa: Four new mutations in rhodopsin, one of them in the retinal attachment site
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Cited by (126)
Naturally occurring mutations in G protein-coupled receptors associated with obesity and type 2 diabetes mellitus
2022, Pharmacology and TherapeuticsCitation Excerpt :Gain-of-function mutations will cause hyper-responsive phenotypes and there are three types of gain-of-function mutations: (1) increased constitutive activity, (2) reduced specificity, and (3) enhanced sensitivity to ligands (Schoneberg et al., 2004; Tao, 2008). K296E mutation in rhodopsin, constitutively active and causing retinitis pigmentosa, was the first gain-of-function mutation identified in GPCRs (Keen et al., 1991; Robinson, Cohen, Zhukovsky, & Oprian, 1992). Obesity, defined as a body mass index (BMI) of 30 or higher (Flegal, Carroll, Ogden, & Curtin, 2010), is characterized as the accumulation of excess fat mass in adipose tissue and other organs.
Spectrum-frequency and genotype–phenotype analysis of rhodopsin variants
2021, Experimental Eye ResearchCitation Excerpt :The 52 variants were classified into the categories of missense (45), splicing site (three), inframe (two), nonsense (one), and frameshift (one) changes. The phenotype analysis, segregation analysis, bioinformatics analysis, and previous evidence suggested that 17 of the 52 variants were potentially pathogenic (Table 1) (Dryja et al., 1991; Inglehearn et al., 1992; Sung et al., 1991; Xu et al., 2014; Zhou et al., 2018; Keen et al., 1991; Macke et al., 1993; Haim et al., 1996; Inglehearn et al., 1991; Souied et al., 1994; Li et al., 2010; Bunge et al., 1993; Dryja et al., 1990a). These include 15 missens, one inframe deletion and one nonsense variant for 33 families with RP.
Pathways and disease-causing alterations in visual chromophore production for vertebrate vision
2021, Journal of Biological ChemistryBiased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases
2021, Biochimica et Biophysica Acta - Molecular Basis of DiseaseCitation Excerpt :Gain-of-function mutations can be due to decreased specificity, enhanced sensitivity in response to ligands, increased basal activity (constitutive activation), or increased receptor expression, thereby causing hyper-responsive phenotypes [11,14]. The rhodopsin K296E is the first reported naturally occurring constitutively active mutation in GPCRs that is associated with human diseases [19]. Robinson et al. showed that the inverse agonist of rhodopsin, 11-cis-retinal, fails to suppress the constitutive activity of K296E since the retinal binding site is mutated, potentially explaining the mechanism that K296E causes retinitis pigmentosa with a persistent stimulation of phototransduction pathway [20].
Misfolded rhodopsin mutants display variable aggregation properties
2018, Biochimica et Biophysica Acta - Molecular Basis of DiseaseAdvances in ligase chain reaction and ligation-based amplifications for genotyping assays: Detection and applications
2017, Mutation Research - Reviews in Mutation Research
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Present address: MRC Human Genetics Unit, Crewe Road, Edinburgh, Scotland.