| The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy. | The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.
Wissinger B, Baumann B, Buena-Atienza E, Ravesh Z, Cideciyan AV, Stingl K, Audo I, Meunier I, Bocquet B, Traboulsi EI, Hardcastle AJ, Gardner JC, Michaelides M, Branham KE, Rosenberg T, Andreasson S, Dollfus H, Birch D, Vincent AL, Martorell L, Català Mora J, Kellner U, Rüther K, Lorenz B, Preising MN, Manfredini E, Zarate YA, Vijzelaar R, Zrenner E, Jacobson SG, Kohl S., Free PMC Article | 07/9/2022 |
| Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction. | Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction.
Stingl K, Baumann B, De Angeli P, Vincent A, Héon E, Cordonnier M, De Baere E, Raskin S, Sato MT, Shiokawa N, Kohl S, Wissinger B., Free PMC Article | 07/2/2022 |
| Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders. | Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders.
Neitz M, Neitz J., Free PMC Article | 02/12/2022 |
| These results suggest that O-glycosylation is a fundamental feature of red and green cone opsins, which may be relevant to their function or to cone cell development, and that differences in this post-translational modification also could contribute to the different morphologies of rod and cone photoreceptors. | Human red and green cone opsins are O-glycosylated at an N-terminal Ser/Thr-rich domain conserved in vertebrates.
Salom D, Jin H, Gerken TA, Yu C, Huang L, Palczewski K., Free PMC Article | 12/14/2019 |
| Molecular genetic analysis of the OPN1LW/OPN1MW gene cluster revealed a novel deletion of about 73 kb in the patient encompassing the LCR. | A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report.
Buena-Atienza E, Nasser F, Kohl S, Wissinger B., Free PMC Article | 04/20/2019 |
| conformational characterization of the two deutan green cone opsin mutants N94K and R330Q; provide novel insights into the mechanism of green cone opsin alterations; results, on the disruptive effect of single point mutants, provide further evidence of the sophisticated network of structural interactions that underlay -and differentiate- rhodopsin and cone opsins functions | Structural and functional alterations associated with deutan N94K and R330Q mutations of green cone opsin.
Srinivasan S, Fernández-Sampedro MA, Ramon E, Garriga P. | 01/26/2019 |
| OPN1LW and OPN1MW restore M-cone function in a mouse model of human blue cone monochromacy. | Human L- and M-opsins restore M-cone function in a mouse model for human blue cone monochromacy.
Deng WT, Li J, Zhu P, Chiodo VA, Smith WC, Freedman B, Baehr W, Pang J, Hauswirth WW., Free PMC Article | 11/17/2018 |
| By inserting five different thermostabilizing proteins (BRIL, T4L, PGS, RUB, and FLAV) into the recombinant green opsin sequence, constructs were created that were up to 9-fold more stable than WT. | Increasing the Stability of Recombinant Human Green Cone Pigment.
Owen TS, Salom D, Sun W, Palczewski K., Free PMC Article | 06/9/2018 |
| Investigated 24 affected males with blue cone monochromacy from 16 families with either a structurally intact gene cluster or at least one intact single (hybrid) gene but harbouring rare combinations of common SNPs in exon 3 in single or multiple OPN1LW and OPN1MW gene copies. We could establish intrachromosomal gene conversion in the male germline as underlying mechanism. | De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.
Buena-Atienza E, Rüther K, Baumann B, Bergholz R, Birch D, De Baere E, Dollfus H, Greally MT, Gustavsson P, Hamel CP, Heckenlively JR, Leroy BP, Plomp AS, Pott JW, Rose K, Rosenberg T, Stark Z, Verheij JB, Weleber R, Zobor D, Weisschuh N, Kohl S, Wissinger B., Free PMC Article | 04/28/2018 |
| Findings show that mutation in OPN1MW underlie the cone dysfunction in all of the subjects tested, the color vision defect can be caused either by the same mutation or a gene rearrangement at the same locus. | Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency.
Patterson EJ, Wilk M, Langlo CS, Kasilian M, Ring M, Hufnagel RB, Dubis AM, Tee JJ, Kalitzeos A, Gardner JC, Ahmed ZM, Sisk RA, Larsen M, Sjoberg S, Connor TB, Dubra A, Neitz J, Hardcastle AJ, Neitz M, Michaelides M, Carroll J., Free PMC Article | 06/24/2017 |
| Data suggest that OPN1MW exhibits a conserved Pro-Pro motif in extracellular loop 2 as observed in monostable visual G-protein-coupled receptors; comparison of deuterium uptake between inactive and active states of OPN1MW suggests a reduced solvent accessibility of the extracellular N-terminal region and an increased accessibility of the chromophore binding site. | Hydrogen/Deuterium Exchange Mass Spectrometry of Human Green Opsin Reveals a Conserved Pro-Pro Motif in Extracellular Loop 2 of Monostable Visual G Protein-Coupled Receptors.
Hofmann L, Alexander NS, Sun W, Zhang J, Orban T, Palczewski K., Free PMC Article | 06/24/2017 |
| Data suggest that insights into dimerization interface of red cone opsin should aid investigations of the structure and function of GPCR cell signaling. | A G Protein-Coupled Receptor Dimerization Interface in Human Cone Opsins.
Jastrzebska B, Comar WD, Kaliszewski MJ, Skinner KC, Torcasio MH, Esway AS, Jin H, Palczewski K, Smith AW., Free PMC Article | 05/27/2017 |
| The study reports on a different regeneration mechanism among red and green cone opsins with retinal analogs using UV-Vis/fluorescence spectroscopic analyses, molecular modeling and site-directed mutagenesis. | Beyond spectral tuning: human cone visual pigments adopt different transient conformations for chromophore regeneration.
Srinivasan S, Cordomí A, Ramon E, Garriga P. | 07/2/2016 |
| We identified 76 individuals with an L-M array. Four had exonic mutations, but the other 72 had no mutation in the exons or flanking introns. Sixty-nine of the 72 individuals had a -71A>C substitution in the M gene promoter. | A new subset of deutan colour vision defect associated with an L/M visual pigment gene array of normal order and -71C substitution in the Japanese population.
Ueyama H, Muraki S, Tanabe S, Yamade S, Ogita H. | 06/28/2016 |
| Identification of one single red-green OPN1LW/MW hybrid gene harboring a point mutation that associates with blue cone monochromatism. | Blue cone monochromatism in a female due to skewed X-inactivation.
Frederiksen AL, Duno M, Welinder LG. | 08/31/2013 |
| The photoreceptor phenotype associated with OPN1LW and OPN1MW mutations is highly variable. These findings have implications for the potential restoration of visual function in subjects with opsin mutations. | The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.
Carroll J, Dubra A, Gardner JC, Mizrahi-Meissonnier L, Cooper RF, Dubis AM, Nordgren R, Genead M, Connor TB Jr, Stepien KE, Sharon D, Hunt DM, Banin E, Hardcastle AJ, Moore AT, Williams DR, Fishman G, Neitz J, Neitz M, Michaelides M., Free PMC Article | 02/16/2013 |
| Missense mutatin in both OPN1LW and OPN1MW cause X-linked cone dystrophy. | A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5).
Gardner JC, Webb TR, Kanuga N, Robson AG, Holder GE, Stockman A, Ripamonti C, Ebenezer ND, Ogun O, Devery S, Wright GA, Maher ER, Cheetham ME, Moore AT, Michaelides M, Hardcastle AJ. | 04/14/2012 |
| Genomic rearrangements in the affected genes cause blue cone monochromatism. | Clinical utility gene card for: blue cone monochromatism.
Kohl S, Hamel CP., Free PMC Article | 09/17/2011 |
| Novel and known mutations affecting the L-M opsin gene array were identified in families with X-linked cone-dominated phenotypes. | Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array.
Mizrahi-Meissonnier L, Merin S, Banin E, Sharon D. | 08/23/2010 |
| Mutations in the LW/MW cone opsin gene array can, therefore, lead to a spectrum of disease, ranging from color blindness to progressive cone dystrophy (XLCOD5). | X-linked cone dystrophy caused by mutation of the red and green cone opsins.
Gardner JC, Webb TR, Kanuga N, Robson AG, Holder GE, Stockman A, Ripamonti C, Ebenezer ND, Ogun O, Devery S, Wright GA, Maher ER, Cheetham ME, Moore AT, Michaelides M, Hardcastle AJ., Free PMC Article | 08/2/2010 |
| Uncategorized study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Fulfilling the promise of personalized medicine? Systematic review and field synopsis of pharmacogenetic studies.
Holmes MV, Shah T, Vickery C, Smeeth L, Hingorani AD, Casas JP., Free PMC Article | 01/20/2010 |
| Results show that, although light absorption behaves differently in blue, green and red opsins, their low-frequency vibrational motions are similar. | Low-frequency vibrational modes and infrared absorbance of red, blue and green opsin.
Thirumuruganandham SP, Urbassek HM. | 01/21/2010 |
| 11-cis-retinol inactivates expressed cone opsins, acting an inverse agonist | The action of 11-cis-retinol on cone opsins and intact cone photoreceptors.
Ala-Laurila P, Cornwall MC, Crouch RK, Kono M., Free PMC Article | 01/21/2010 |
| In Japanese males with congenital red/green color blindness the mutation Asn94Lys (AAC-->AAA) occurred in the single green gene of a deutan subject (A155); and Arg330Gln (CGA-->CAA) in both green genes of another, affecting protein folding and function | Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies.
Ueyama H, Kuwayama S, Imai H, Tanabe S, Oda S, Nishida Y, Wada A, Shichida Y, Yamade S. | 01/21/2010 |
| Abnormal distribution of cone green opsin is associated with autosomal dominant cone dystrophy | Abnormal distribution of red/green cone opsins in a patient with an autosomal dominant cone dystrophy.
Bonilha VL, Hollyfield JG, Grover S, Fishman GA. | 01/21/2010 |