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    OPN1LW opsin 1, long wave sensitive [ Homo sapiens (human) ]

    Gene ID: 5956, updated on 4-Feb-2018

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    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.

    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
    Opsin expression in terminally differentiated mammalian cones remains subject to control by thyroid hormone through its receptor TRbeta2.

    Thyroid hormone controls cone opsin expression in the retina of adult rodents.
    Glaschke A, Weiland J, Del Turco D, Steiner M, Peichl L, Glösmann M.

    06/4/2011
    Observational study of genetic testing. (HuGE Navigator)

    Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
    Booij JC, Bakker A, Kulumbetova J, Moutaoukil Y, Smeets B, Verheij J, Kroes HY, Klaver CC, van Schooneveld M, Bergen AA, Florijn RJ.

    12/5/2010
    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
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (2) articles04/7/2010
    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
    Immunoreactivity to anti-OPN1LW antibodies was seen in the basal layer of human epidermis & reconstructed skin. The opsin mRNA was seen in total RNA from human skin. Neither immunoreactivity nor mRNA expression was seen in cultured human keratinocytes.

    Expressions of rod and cone photoreceptor-like proteins in human epidermis.
    Tsutsumi M, Ikeyama K, Denda S, Nakanishi J, Fuziwara S, Aoki H, Denda M.

    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 a Japanese male with congenital protan red/green color blindness the mutation Gly338Glu (GGG-->GAG) occurred in the single red gene resulting in no absorbance and loss of 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 red 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
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