| Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism. | Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism.
Wang Y, Sun W, Xiao X, Jiang Y, Ouyang J, Wang J, Yi Z, Li S, Jia X, Wang P, Hejtmancik JF, Zhang Q., Free PMC Article | 04/28/2023 |
| 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 |
| Insight from OPN1LW Gene Haplotypes into the Cause and Prevention of Myopia. | Insight from OPN1LW Gene Haplotypes into the Cause and Prevention of Myopia.
Neitz M, Wagner-Schuman M, Rowlan JS, Kuchenbecker JA, Neitz J., 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 |
| Visual and ocular findings in a family with X-linked cone dysfunction and protanopia. | Visual and ocular findings in a family with X-linked cone dysfunction and protanopia.
Holmquist D, Epstein D, Olsson M, Wissinger B, Kohl S, Hengstler J, Tear-Fahnehjelm K. | 01/29/2022 |
| 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 |
| Differential stability of variant OPN1LW gene transcripts in myopic Australian islander patients has been reported. | Differential stability of variant OPN1LW gene transcripts in myopic patients.
Mountford JK, Davies WIL, Griffiths LR, Yazar S, Mackey DA, Hunt DM., Free PMC Article | 08/31/2019 |
| 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 |
| 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 |
| 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 |
| In conclusion, we showed that normal-order gene array is frequently found in Japanese men with protan color-vision defect and that three novel mutations, Trp177STOP, -99T>G and +3A>C (intron 2) could have caused protanopia in the recently analyzed cases. | Novel mutations in the L visual pigment gene found in Japanese men with protan color-vision defect having a normal order L/M gene array.
Muraki S, Ueyama H, Tanabe S, Yamade S, Ogita H, Ohji M. | 11/18/2017 |
| LVAVA haplotype of the OPN1LW gene and MVAVA haplotype of the OPN1MW gene cause apparently nonsyndromic high myopia in young patients but lead to progressive cone-rod dystrophy with deuteranopia and protanopia in middle-aged patients corresponding to a previously unknown disease course. | Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X.
Orosz O, Rajta I, Vajas A, Takács L, Csutak A, Fodor M, Kolozsvári B, Resch M, Sényi K, Lesch B, Szabó V, Berta A, Balogh I, Losonczy G. | 07/1/2017 |
| Findings show that OPN1LW mutations 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 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., Free PMC Article | 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 |
| The Ser180Ala polymorphisms on the L-opsin gene were found to influence the subject's color discrimination and their sensitivity to spatio-chromatic patterns. | The influence of L-opsin gene polymorphisms and neural ageing on spatio-chromatic contrast sensitivity in 20-71 year olds.
Dees EW, Gilson SJ, Neitz M, Baraas RC. | 05/21/2016 |
| Our study confirms the findings that unique variants in OPN1LW are responsible for both syndromic and nonsyndromic X-linked high myopia mapped to MYP1. | Unique Variants in OPN1LW Cause Both Syndromic and Nonsyndromic X-Linked High Myopia Mapped to MYP1.
Li J, Gao B, Guan L, Xiao X, Zhang J, Li S, Jiang H, Jia X, Yang J, Guo X, Yin Y, Wang J, Zhang Q. | 09/5/2015 |
| Using several human ROP enhancer/promoter-luciferase reporter constructs, the study found that thyroid hormone receptor beta 2 increased luciferase activities through the 5'-UTR and intron 3-4 region. | Enhancer/promoter activities of the long/middle wavelength-sensitive opsins of vertebrates mediated by thyroid hormone receptor β2 and COUP-TFII.
Iwagawa T, Tanaka Y, Iida A, Itoh T, Watanabe S., Free PMC Article | 06/28/2014 |
| 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 |
| These results suggest that complete skipping of exon 3 at splicing, due to the unique haplotype of the exon, causes loss of expression of L-opsin in 119 Japanise men with protanopia color vision defect. | Unique haplotype in exon 3 of cone opsin mRNA affects splicing of its precursor, leading to congenital color vision defect.
Ueyama H, Muraki-Oda S, Yamade S, Tanabe S, Yamashita T, Shichida Y, Ogita H. | 11/17/2012 |
| Missense mutation 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 |