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Myopia is the dominant risk factor for leading causes of blindness, including myopic maculopathy and retinal detachment. The fundamental defect in myopia—an excessively elongated eyeball—causes blurry distance vision that is correctable with lenses or surgery, but the risk of blindness remains. Haplotypes of the long-wavelength and middle-wavelength cone opsin genes (OPN1LW and OPN1MW, respectively) that exhibit profound exon-3 skipping during pre-messenger RNA splicing are associated with high myopia. Cone photoreceptors expressing these haplotypes are nearly devoid of photopigment. Conversely, cones in the same retina that express non-skipping haplotypes are relatively full of photopigment. We hypothesized that abnormal contrast signals a...","author":[{"@context":"https://schema.org","@type":"Person","name":"Jay Neitz"}],"contributor":[],"dateCreated":"2022-07-11","dateModified":null,"datePublished":null,"headline":"Insight from OPN1LW Gene Haplotypes into the Cause and Prevention of Myopia","inLanguage":"en","keywords":["Genes"],"locationCreated":null,"publication":"Genes","publisher":{"@context":"https://schema.org","@type":"Organization","name":"MDPI AG"},"image":null,"thumbnailUrl":null,"url":"https://www.academia.edu/82967085/Insight_from_OPN1LW_Gene_Haplotypes_into_the_Cause_and_Prevention_of_Myopia","sourceOrganization":[{"@context":"https://schema.org","@type":"EducationalOrganization","name":"washington"}]}</script><link rel="stylesheet" media="all" href="//a.academia-assets.com/assets/single_work_page/loswp-352e32ba4e89304dc0b4fa5b3952eef2198174c54cdb79066bc62e91c68a1a91.css" /><link rel="stylesheet" media="all" 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window.loswp.translateUrl = "https://www.academia.edu/login?post_login_redirect_url=https%3A%2F%2Fwww.academia.edu%2F82967085%2FInsight_from_OPN1LW_Gene_Haplotypes_into_the_Cause_and_Prevention_of_Myopia%3Fshow_translation%3Dtrue"; window.loswp.previewableAttachments = [{"id":88487072,"identifier":"Attachment_88487072","shouldShowBulkDownload":false}]; window.loswp.shouldDetectTimezone = true; window.loswp.shouldShowBulkDownload = true; window.loswp.showSignupCaptcha = false window.loswp.willEdgeCache = false; window.loswp.work = {"work":{"id":82967085,"created_at":"2022-07-11T11:30:54.625-07:00","from_world_paper_id":210308771,"updated_at":"2022-07-11T19:08:50.884-07:00","_data":{"abstract":"Nearsightedness (myopia) is a global health problem of staggering proportions that has driven the hunt for environmental and genetic risk factors in hopes of gaining insight into the underlying mechanism and providing new avenues of intervention. Myopia is the dominant risk factor for leading causes of blindness, including myopic maculopathy and retinal detachment. The fundamental defect in myopia—an excessively elongated eyeball—causes blurry distance vision that is correctable with lenses or surgery, but the risk of blindness remains. Haplotypes of the long-wavelength and middle-wavelength cone opsin genes (OPN1LW and OPN1MW, respectively) that exhibit profound exon-3 skipping during pre-messenger RNA splicing are associated with high myopia. Cone photoreceptors expressing these haplotypes are nearly devoid of photopigment. Conversely, cones in the same retina that express non-skipping haplotypes are relatively full of photopigment. We hypothesized that abnormal contrast signals a...","publisher":"MDPI AG","publication_name":"Genes"},"document_type":"paper","pre_hit_view_count_baseline":null,"quality":"low","language":"en","title":"Insight from OPN1LW Gene Haplotypes into the Cause and Prevention of Myopia","broadcastable":false,"draft":null,"has_indexable_attachment":true,"indexable":true}}["work"]; window.loswp.workCoauthors = [38795542]; window.loswp.locale = "en"; window.loswp.countryCode = "SG"; window.loswp.cwvAbTestBucket = ""; window.loswp.designVariant = "ds_vanilla"; window.loswp.fullPageMobileSutdModalVariant = "control"; window.loswp.useOptimizedScribd4genScript = false; window.loswp.appleClientId = 'edu.academia.applesignon';</script><script defer="" src="https://accounts.google.com/gsi/client"></script><div class="ds-loswp-container"><div class="ds-work-card--grid-container"><div class="ds-work-card--container js-loswp-work-card"><div class="ds-work-card--cover"><div class="ds-work-cover--wrapper"><div class="ds-work-cover--container"><button class="ds-work-cover--clickable js-swp-download-button" data-signup-modal="{"location":"swp-splash-paper-cover","attachmentId":88487072,"attachmentType":"pdf"}"><img alt="First page of “Insight from OPN1LW Gene Haplotypes into the Cause and Prevention of Myopia”" class="ds-work-cover--cover-thumbnail" src="https://0.academia-photos.com/attachment_thumbnails/88487072/mini_magick20220711-8178-11tv69p.png?1657591884" /><img alt="PDF Icon" class="ds-work-cover--file-icon" src="//a.academia-assets.com/assets/single_work_splash/adobe.icon-574afd46eb6b03a77a153a647fb47e30546f9215c0ee6a25df597a779717f9ef.svg" /><div class="ds-work-cover--hover-container"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">download</span><p>Download Free PDF</p></div><div class="ds-work-cover--ribbon-container">Download Free PDF</div><div class="ds-work-cover--ribbon-triangle"></div></button></div></div></div><div class="ds-work-card--work-information"><h1 class="ds-work-card--work-title">Insight from OPN1LW Gene Haplotypes into the Cause and Prevention of Myopia</h1><div class="ds-work-card--work-authors ds-work-card--detail"><a class="ds-work-card--author js-wsj-grid-card-author ds2-5-body-md ds2-5-body-link" data-author-id="38795542" href="https://washington.academia.edu/JayNeitz"><img alt="Profile image of Jay Neitz" class="ds-work-card--author-avatar" src="https://0.academia-photos.com/38795542/10751984/12002008/s65_jay.neitz.jpg" />Jay Neitz</a></div><p class="ds-work-card--detail ds2-5-body-sm">Genes</p><p class="ds-work-card--work-abstract ds-work-card--detail ds2-5-body-md">Nearsightedness (myopia) is a global health problem of staggering proportions that has driven the hunt for environmental and genetic risk factors in hopes of gaining insight into the underlying mechanism and providing new avenues of intervention. Myopia is the dominant risk factor for leading causes of blindness, including myopic maculopathy and retinal detachment. The fundamental defect in myopia—an excessively elongated eyeball—causes blurry distance vision that is correctable with lenses or surgery, but the risk of blindness remains. Haplotypes of the long-wavelength and middle-wavelength cone opsin genes (OPN1LW and OPN1MW, respectively) that exhibit profound exon-3 skipping during pre-messenger RNA splicing are associated with high myopia. Cone photoreceptors expressing these haplotypes are nearly devoid of photopigment. Conversely, cones in the same retina that express non-skipping haplotypes are relatively full of photopigment. We hypothesized that abnormal contrast signals a...</p><div class="ds-work-card--button-container"><button class="ds2-5-button js-swp-download-button" data-signup-modal="{"location":"continue-reading-button--work-card","attachmentId":88487072,"attachmentType":"pdf","workUrl":"https://www.academia.edu/82967085/Insight_from_OPN1LW_Gene_Haplotypes_into_the_Cause_and_Prevention_of_Myopia"}">See full PDF</button><button class="ds2-5-button ds2-5-button--secondary js-swp-download-button" data-signup-modal="{"location":"download-pdf-button--work-card","attachmentId":88487072,"attachmentType":"pdf","workUrl":"https://www.academia.edu/82967085/Insight_from_OPN1LW_Gene_Haplotypes_into_the_Cause_and_Prevention_of_Myopia"}"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">download</span>Download PDF</button></div></div></div></div><div data-auto_select="false" data-client_id="331998490334-rsn3chp12mbkiqhl6e7lu2q0mlbu0f1b" data-doc_id="88487072" data-landing_url="https://www.academia.edu/82967085/Insight_from_OPN1LW_Gene_Haplotypes_into_the_Cause_and_Prevention_of_Myopia" data-login_uri="https://www.academia.edu/registrations/google_one_tap" data-moment_callback="onGoogleOneTapEvent" id="g_id_onload"></div><div class="ds-top-related-works--grid-container"><div class="ds-related-content--container ds-top-related-works--container"><h2 class="ds-related-content--heading">Related papers</h2><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="0" data-entity-id="64588865" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/64588865/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</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="38795542" href="https://washington.academia.edu/JayNeitz">Jay Neitz</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Genes</p><p class="ds-related-work--abstract ds2-5-body-sm">Light absorption by photopigment molecules expressed in the photoreceptors in the retina is the first step in seeing. Two types of photoreceptors in the human retina are responsible for image formation: rods, and cones. Except at very low light levels when rods are active, all vision is based on cones. Cones mediate high acuity vision and color vision. Furthermore, they are critically important in the visual feedback mechanism that regulates refractive development of the eye during childhood. The human retina contains a mosaic of three cone types, short-wavelength (S), long-wavelength (L), and middle-wavelength (M) sensitive; however, the vast majority (~94%) are L and M cones. The OPN1LW and OPN1MW genes, located on the X-chromosome at Xq28, encode the protein component of the light-sensitive photopigments expressed in the L and M cones. Diverse haplotypes of exon 3 of the OPN1LW and OPN1MW genes arose thru unequal recombination mechanisms that have intermixed the genes. A subset o...</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders","attachmentId":76555943,"attachmentType":"pdf","work_url":"https://www.academia.edu/64588865/Intermixing_the_OPN1LW_and_OPN1MW_Genes_Disrupts_the_Exonic_Splicing_Code_Causing_an_Array_of_Vision_Disorders","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/64588865/Intermixing_the_OPN1LW_and_OPN1MW_Genes_Disrupts_the_Exonic_Splicing_Code_Causing_an_Array_of_Vision_Disorders"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="1" data-entity-id="75854686" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/75854686/Role_of_a_Dual_Splicing_and_Amino_Acid_Code_in_Myopia_Cone_Dysfunction_and_Cone_Dystrophy_Associated_with_L_M_Opsin_Interchange_Mutations">Role of a Dual Splicing and Amino Acid Code in Myopia, Cone Dysfunction and Cone Dystrophy Associated with L/M Opsin Interchange Mutations</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="38795542" href="https://washington.academia.edu/JayNeitz">Jay Neitz</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Translational Vision Science & Technology, 2017</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Role of a Dual Splicing and Amino Acid Code in Myopia, Cone Dysfunction and Cone Dystrophy Associated with L/M Opsin Interchange Mutations","attachmentId":83483500,"attachmentType":"pdf","work_url":"https://www.academia.edu/75854686/Role_of_a_Dual_Splicing_and_Amino_Acid_Code_in_Myopia_Cone_Dysfunction_and_Cone_Dystrophy_Associated_with_L_M_Opsin_Interchange_Mutations","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/75854686/Role_of_a_Dual_Splicing_and_Amino_Acid_Code_in_Myopia_Cone_Dysfunction_and_Cone_Dystrophy_Associated_with_L_M_Opsin_Interchange_Mutations"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="2" data-entity-id="83753172" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/83753172/Differential_stability_of_variant_OPN1LW_gene_transcripts_in_myopic_patients">Differential stability of variant OPN1LW gene transcripts in myopic patients</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="237362" href="https://uwa.academia.edu/DavidMHunt">David Hunt</a></div><p class="ds-related-work--metadata ds2-5-body-xs">2019</p><p class="ds-related-work--abstract ds2-5-body-sm">Purpose In Bornholm eye disease, a defect in the splicing of transcripts from a variant OPN1LW opsin gene leads to a depletion in spliced transcript levels and, consequently, a reduction in photopigment in photoreceptors expressing the variant gene. Methods Myopic and age-matched control subjects were drawn from the Western Australian Pregnancy Cohort (Raine) Study and the Norfolk Island Eye Study groups. The OPN1LW opsin gene was amplified using long-range PCR methodology and was fully sequenced. Expression of variant opsins was evaluated using quantitative PCR (qPCR). RNA secondary structure changes arising from identified variants were predicted by modeling. Results Forty-two nucleotide sites were found to vary across the 111 subjects studied. Of these, 15 had not been previously reported, with three present only in myopic individuals. Expression of these variants in transfected human embryonic kidney (HEK293T) cells demonstrated that splicing efficiencies were not affected. 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class="ds-related-work--container js-wsj-grid-card" data-collection-position="6" data-entity-id="64588839" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/64588839/The_association_between_L_M_cone_ratio_cone_opsin_genes_and_myopia_susceptibility">The association between L:M cone ratio, cone opsin genes and myopia susceptibility</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="38795542" href="https://washington.academia.edu/JayNeitz">Jay Neitz</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Vision Research</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"The association between L:M cone ratio, cone opsin genes and myopia susceptibility","attachmentId":76556055,"attachmentType":"pdf","work_url":"https://www.academia.edu/64588839/The_association_between_L_M_cone_ratio_cone_opsin_genes_and_myopia_susceptibility","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/64588839/The_association_between_L_M_cone_ratio_cone_opsin_genes_and_myopia_susceptibility"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="7" data-entity-id="95195460" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/95195460/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</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="30427176" href="https://independent.academia.edu/AjoyVincent">Ajoy Vincent</a></div><p class="ds-related-work--metadata ds2-5-body-xs">International Journal of Molecular Sciences</p><p class="ds-related-work--abstract ds2-5-body-sm">Certain combinations of common variants in exon 3 of OPN1LW and OPN1MW, the genes encoding the apo-protein of the long- and middle-wavelength sensitive cone photoreceptor visual pigments in humans, induce splicing defects and have been associated with dyschromatopsia and cone dysfunction syndromes. Here we report the identification of a novel exon 3 haplotype, G-C-G-A-T-T-G-G (referring to nucleotide variants at cDNA positions c.453, c.457, c.465, c.511, c.513, c.521, c.532, and c.538) deduced to encode a pigment with the amino acid residues L-I-V-V-A at positions p.153, p.171, p.174, p.178, and p.180, in OPN1LW or OPN1MW or both in a series of seven patients from four families with cone dysfunction. Applying minigene assays for all observed exon 3 haplotypes in the patients, we demonstrated that the novel exon 3 haplotype L-I-V-V-A induces a strong but incomplete splicing defect with 3–5% of residual correctly spliced transcripts. Minigene splicing outcomes were similar in HEK293 c...</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction","attachmentId":97444023,"attachmentType":"pdf","work_url":"https://www.academia.edu/95195460/Novel_OPN1LW_OPN1MW_Exon_3_Haplotype_Associated_Splicing_Defect_in_Patients_with_X_Linked_Cone_Dysfunction","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/95195460/Novel_OPN1LW_OPN1MW_Exon_3_Haplotype_Associated_Splicing_Defect_in_Patients_with_X_Linked_Cone_Dysfunction"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="8" data-entity-id="22737790" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/22737790/Three_different_cone_opsin_gene_array_mutational_mechanisms_with_genotype_phenotype_correlation_and_functional_investigation_of_cone_opsin_variants">Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="43758500" href="https://independent.academia.edu/BurcuERMETAL">Burcu ERMETAL</a><span>, </span><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="44368937" href="https://independent.academia.edu/JessicaGardner2">Jessica Gardner</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Human mutation, 2014</p><p class="ds-related-work--abstract ds2-5-body-sm">Mutations in the OPN1LW (L-) and OPN1MW (M-)cone opsin genes underlie a spectrum of cone photoreceptor defects from stationary loss of color vision to progressive retinal degeneration. Genotypes of 22 families with a range of cone disorders were grouped into three classes: deletions of the locus control region (LCR); missense mutation (p.Cys203Arg) in an L-/M-hybrid gene; and exon 3 single-nucleotide polymorphism (SNP) interchange haplotypes in an otherwise normal gene array. Moderate-to-high myopia was observed in all mutation categories. Individuals with LCR deletions or p.Cys203Arg mutations were more likely to have nystagmus and poor vision, with disease progression in some p.Cys203Arg patients. Three disease-associated exon 3 SNP haplotypes encoding LIAVA, LVAVA, or MIAVA were identified in our cohort. These patients were less likely to have nystagmus but more likely to show progression, with all patients over the age of 40 years having marked macular abnormalities. 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