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(PDF) A two-step method for identifying photopigment opsin and rhodopsin gene sequences underlying human color vision phenotypes | Kimberly A. Jameson - Academia.edu
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Jameson - Academia.edu</title> <link rel="canonical" href="https://www.academia.edu/69850002/A_two_step_method_for_identifying_photopigment_opsin_and_rhodopsin_gene_sequences_underlying_human_color_vision_phenotypes" /> <script async src="https://www.googletagmanager.com/gtag/js?id=G-5VKX33P2DS"></script> <script> window.dataLayer = window.dataLayer || []; function gtag(){dataLayer.push(arguments);} gtag('js', new Date()); gtag('config', 'G-5VKX33P2DS', { cookie_domain: 'academia.edu', send_page_view: false, }); gtag('event', 'page_view', { 'controller': "single_work", 'action': "show", 'controller_action': 'single_work#show', 'logged_in': 'false', 'edge': 'unknown', // Send nil if there is no A/B test bucket, in case some records get logged // with missing data - that way we can distinguish between the two cases. // ab_test_bucket should be of the form <ab_test_name>:<bucket> 'ab_test_bucket': null, }) </script> <script> var $controller_name = 'single_work'; var $action_name = "show"; var $rails_env = 'production'; var $app_rev = '49879c2402910372f4abc62630a427bbe033d190'; var $domain = 'academia.edu'; var $app_host = "academia.edu"; var $asset_host = "academia-assets.com"; var $start_time = new Date().getTime(); var $recaptcha_key = "6LdxlRMTAAAAADnu_zyLhLg0YF9uACwz78shpjJB"; var $recaptcha_invisible_key = "6Lf3KHUUAAAAACggoMpmGJdQDtiyrjVlvGJ6BbAj"; var $disableClientRecordHit = false; </script> <script> window.require = { config: function() { return function() {} } } </script> <script> window.Aedu = window.Aedu || {}; window.Aedu.hit_data = null; window.Aedu.serverRenderTime = new Date(1732456522000); window.Aedu.timeDifference = new Date().getTime() - 1732456522000; </script> <script type="application/ld+json">{"@context":"https://schema.org","@type":"ScholarlyArticle","abstract":"Purpose To present a detailed, reliable long range-PCR and sequencing (LR-PCR-Seq) procedure to identify human opsin gene sequences for variations in the long wavelength-sensitive (OPN1LW), medium wavelength-sensitive (OPN1MW), short wavelength-sensitive (OPN1SW), and rhodopsin (RHO) genes. Methods Color vision was assessed for nine subjects using the Farnsworth-Munsell 100 hue test, Ishihara pseudoisochromatic plates, and the Rabin cone-contrast threshold procedure (ColorDX, Konan Medical). The color vision phenotypes were normal trichromacy (n = 3), potential tetrachromacy (n = 3), dichromacy (n = 2), and unexplained low color vision (n = 1). DNA was isolated from blood or saliva and LR-PCR amplified into individual products: OPN1LW (4,045 bp), OPN1MW (4,045 bp), OPN1SW (3,326 bp), and RHO (6,715 bp). Each product was sequenced using specific internal primer sets. Analysis was performed with Mutation Surveyor software. Results The LR-PCR-Seq technique identified known single nucle...","author":[{"@context":"https://schema.org","@type":"Person","name":"Kimberly A. Jameson"}],"contributor":[],"dateCreated":"2022-01-28","dateModified":"2022-01-29","datePublished":"2020-01-01","headline":"A two-step method for identifying photopigment opsin and rhodopsin gene sequences underlying human color vision phenotypes","inLanguage":"en","keywords":["Biology","Medicine"],"locationCreated":null,"publication":"Molecular Vision","publisher":{"@context":"https://schema.org","@type":"Organization","name":"Molecular vision"},"image":null,"thumbnailUrl":null,"url":"https://www.academia.edu/69850002/A_two_step_method_for_identifying_photopigment_opsin_and_rhodopsin_gene_sequences_underlying_human_color_vision_phenotypes","sourceOrganization":[{"@context":"https://schema.org","@type":"EducationalOrganization","name":null}]}</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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To present a detailed, reliable long range-PCR and sequencing (LR-PCR-Seq) procedure to identify human opsin gene sequences for variations in the long wavelength-sensitive (OPN1LW), medium wavelength-sensitive (OPN1MW), short wavelength-sensitive (OPN1SW), and rhodopsin (RHO) genes. Methods Color vision was assessed for nine subjects using the Farnsworth-Munsell 100 hue test, Ishihara pseudoisochromatic plates, and the Rabin cone-contrast threshold procedure (ColorDX, Konan Medical). The color vision phenotypes were normal trichromacy (n = 3), potential tetrachromacy (n = 3), dichromacy (n = 2), and unexplained low color vision (n = 1). DNA was isolated from blood or saliva and LR-PCR amplified into individual products: OPN1LW (4,045 bp), OPN1MW (4,045 bp), OPN1SW (3,326 bp), and RHO (6,715 bp). Each product was sequenced using specific internal primer sets. Analysis was performed with Mutation Surveyor software. Results The LR-PCR-Seq technique identified known single nucle...","publisher":"Molecular vision","publication_date":"2020,,","publication_name":"Molecular Vision"},"document_type":"paper","pre_hit_view_count_baseline":null,"quality":"high","language":"en","title":"A two-step method for identifying photopigment opsin and rhodopsin gene sequences underlying human color vision phenotypes","broadcastable":false,"draft":null,"has_indexable_attachment":true,"indexable":true}}["work"]; window.loswp.workCoauthors = [9685372]; window.loswp.locale = "en"; window.loswp.countryCode = "SG"; window.loswp.cwvAbTestBucket = ""; window.loswp.designVariant = "ds_vanilla"; window.loswp.fullPageMobileSutdModalVariant = "full_page_mobile_sutd_modal"; 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":79790206,"attachmentType":"pdf"}"><img alt="First page of “A two-step method for identifying photopigment opsin and rhodopsin gene sequences underlying human color vision phenotypes”" class="ds-work-cover--cover-thumbnail" src="https://0.academia-photos.com/attachment_thumbnails/79790206/mini_magick20220128-8780-11tv2im.png?1643432431" /><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">A two-step method for identifying photopigment opsin and rhodopsin gene sequences underlying human color vision phenotypes</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="9685372" href="https://independent.academia.edu/KimberlyAJameson"><img alt="Profile image of Kimberly A. Jameson" class="ds-work-card--author-avatar" src="https://0.academia-photos.com/9685372/13061174/62489880/s65_kimberly.a._jameson.jpeg" />Kimberly A. Jameson</a></div><p class="ds-work-card--detail ds2-5-body-sm">2020, Molecular Vision</p><p class="ds-work-card--work-abstract ds-work-card--detail ds2-5-body-md">Purpose To present a detailed, reliable long range-PCR and sequencing (LR-PCR-Seq) procedure to identify human opsin gene sequences for variations in the long wavelength-sensitive (OPN1LW), medium wavelength-sensitive (OPN1MW), short wavelength-sensitive (OPN1SW), and rhodopsin (RHO) genes. Methods Color vision was assessed for nine subjects using the Farnsworth-Munsell 100 hue test, Ishihara pseudoisochromatic plates, and the Rabin cone-contrast threshold procedure (ColorDX, Konan Medical). The color vision phenotypes were normal trichromacy (n = 3), potential tetrachromacy (n = 3), dichromacy (n = 2), and unexplained low color vision (n = 1). DNA was isolated from blood or saliva and LR-PCR amplified into individual products: OPN1LW (4,045 bp), OPN1MW (4,045 bp), OPN1SW (3,326 bp), and RHO (6,715 bp). Each product was sequenced using specific internal primer sets. Analysis was performed with Mutation Surveyor software. Results The LR-PCR-Seq technique identified known single nucle...</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":79790206,"attachmentType":"pdf","workUrl":"https://www.academia.edu/69850002/A_two_step_method_for_identifying_photopigment_opsin_and_rhodopsin_gene_sequences_underlying_human_color_vision_phenotypes"}">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":79790206,"attachmentType":"pdf","workUrl":"https://www.academia.edu/69850002/A_two_step_method_for_identifying_photopigment_opsin_and_rhodopsin_gene_sequences_underlying_human_color_vision_phenotypes"}"><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="79790206" data-landing_url="https://www.academia.edu/69850002/A_two_step_method_for_identifying_photopigment_opsin_and_rhodopsin_gene_sequences_underlying_human_color_vision_phenotypes" 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="6271932" 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/6271932/Long_Range_Polymerase_Chain_Reaction_Method_for_Detection_of_Human_Red_and_Green_Opsin_Gene_Polymorphisms">Long-Range Polymerase Chain Reaction Method for Detection of Human Red and Green Opsin Gene Polymorphisms</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="9685372" href="https://independent.academia.edu/KimberlyAJameson">Kimberly A. 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Jameson</a></div><p class="ds-related-work--metadata ds2-5-body-xs">2010</p><p class="ds-related-work--abstract ds2-5-body-sm">Human color-vision discriminates middlefrom long-wavelength spectral light 13 as a result of photopigment opsin genes found on the q-arm of the X-chromosome at 14 location Xq28. These so called ‘green’ and ‘red’ opsin gene sequences are 98% 15 homologous, producing middle-wavelength sensitive and long-wavelength sensitive 16 photopigment opsin gene sequences which differ by only seven locations at which 17 important amino-acid substitutions occur. Investigations of variations in green and red gene 18 arrays, and the consequences on phenotype expression, are the basis for color vision 19 anomalies, including those first described by Dalton in 1789 [1], and are important for 20 understanding expression mechanisms contributing to evolution of photopigment opsin 21 genotypes. Here we introduce a long-range polymerase chain reaction assay for specifying 22 the presence of genetic dimorphisms in human red and green gene sequences, and examine 23 the utility of the long-range PCR in predic...</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":"Long-Range Polymerase Chain Reaction Method for Detection 3 of Human Red and Green Opsin Gene Polymorphisms 4","attachmentId":79790201,"attachmentType":"pdf","work_url":"https://www.academia.edu/69849998/Long_Range_Polymerase_Chain_Reaction_Method_for_Detection_3_of_Human_Red_and_Green_Opsin_Gene_Polymorphisms_4","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/69849998/Long_Range_Polymerase_Chain_Reaction_Method_for_Detection_3_of_Human_Red_and_Green_Opsin_Gene_Polymorphisms_4"><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="33388197" 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/33388197/Opsin_genes_cone_photopigments_color_vision_and_color_blindness">Opsin genes, cone photopigments, color vision, and color blindness</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="65330324" href="https://independent.academia.edu/ArifRamli3">Arif Ramli</a></div><p class="ds-related-work--abstract ds2-5-body-sm">In this chapter, we introduce the molecular structure of the genes encoding the human cone photopig-ments and their expression in photoreceptor cells. We also consider the consequences that alterations in those genes have on the spectral sensitivity of the pho-topigments, the cone photoreceptor mosaic, and the perceptual worlds of the color normal and color blind individuals who possess them. Throughout, we highlight areas in which our knowledge is still incomplete.</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":"Opsin genes, cone photopigments, color vision, and color blindness","attachmentId":53443957,"attachmentType":"pdf","work_url":"https://www.academia.edu/33388197/Opsin_genes_cone_photopigments_color_vision_and_color_blindness","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/33388197/Opsin_genes_cone_photopigments_color_vision_and_color_blindness"><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="3" data-entity-id="18730221" 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/18730221/Molecular_Genetics_of_Color_Vision_and_Color_Vision_Defects">Molecular Genetics of Color Vision and Color Vision Defects</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">Archives of Ophthalmology, 2000</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":"Molecular Genetics of Color Vision and Color Vision 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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/18730284/The_genetics_of_normal_and_defective_color_vision"><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="5" data-entity-id="81810644" 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/81810644/Human_tritanopia_associated_with_two_amino_acid_substitutions_in_the_blue_sensitive_opsin">Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin</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="66859575" href="https://independent.academia.edu/KShin4">K Shin</a></div><p class="ds-related-work--metadata ds2-5-body-xs">American journal of human genetics, 1992</p><p class="ds-related-work--abstract ds2-5-body-sm">Tritanopia is an autosomal dominant genetic disorder of human vision characterize by a selective deficiency of blue spectral sensitivity. 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These results complete the genetic evidence for the trichromatic theory of human color vision.</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":"Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin","attachmentId":87725779,"attachmentType":"pdf","work_url":"https://www.academia.edu/81810644/Human_tritanopia_associated_with_two_amino_acid_substitutions_in_the_blue_sensitive_opsin","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/81810644/Human_tritanopia_associated_with_two_amino_acid_substitutions_in_the_blue_sensitive_opsin"><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="6" data-entity-id="18730291" 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/18730291/Genetic_basis_of_photopigment_variations_in_human_dichromats">Genetic basis of photopigment variations in human dichromats</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, 1995</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" 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href="https://www.academia.edu/15451405/Opsin_gene_and_photopigment_polymorphism_in_a_prosimian_primate"><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-related-work-sidebar-card" data-collection-position="15" data-entity-id="5727597" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/5727597/A_Three_Single_Nucleotide_Polymorphism_Haplotype_in_Intron_1_of_OCA2_Explains_Most_Human_Eye_Color_Variation">A Three–Single-Nucleotide Polymorphism Haplotype in Intron 1 of OCA2 Explains Most Human Eye-Color Variation</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="8320213" href="https://independent.academia.edu/DavidZhenZhen">David Zhen Zhen</a></div><p 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