{"id":{"repo_id":"cape-town","oai_identifier":"oai:open.uct.ac.za:11427/10007"},"canonical_url":"https://search.dev.ndltd.org/etd/cape-town/oai:open.uct.ac.za:11427/10007","repository":{"repo_id":"cape-town","name":"University of Cape Town","base_url":"https://open.uct.ac.za/oai/request"},"display":{"title":"Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype","abstract":"Retinitis Pigmentosa (RP) is a group of heterogeneous retinal degenerative diseases that predominantly affect rod photoreceptor cells. Symptoms include night blindness and gradual peripheral vision loss, which progresses to a complete loss of vision. Clinical, phenotypic and genetic heterogeneity are frequently observed in RP. Mutations in Rhodopsin (RHO) have been identified as a major cause of RP. A sequence variant identified in the 5' untranslated region of RHO, g.269A>G, also known as c.-26A>G, was proposed to increase the risk of developing RP. In this study, the functional effect of this variant, individually and in cis with known pathogenic variants, was investigated using mammalian cell lines in order to determine whether the variant is a modifier of disease phenotype.","abstract_html":"Retinitis Pigmentosa (RP) is a group of heterogeneous retinal degenerative diseases that predominantly affect rod photoreceptor cells. Symptoms include night blindness and gradual peripheral vision loss, which progresses to a complete loss of vision. Clinical, phenotypic and genetic heterogeneity are frequently observed in RP. Mutations in Rhodopsin (RHO) have been identified as a major cause of RP. A sequence variant identified in the 5' untranslated region of RHO, g.269A>G, also known as c.-26A>G, was proposed to increase the risk of developing RP. In this study, the functional effect of this variant, individually and in cis with known pathogenic variants, was investigated using mammalian cell lines in order to determine whether the variant is a modifier of disease phenotype.","abstract_has_math":false,"creators":["Akinyi, Maureen Veronica"],"institution":"Division of Human Genetics","degree_name":null,"degree_level":null,"degree_discipline":null,"degree_department":null,"school":null,"contributors":[],"advisors":["Ramesar, Raj"],"committee_chairs":[],"committee_members":[],"year":2011,"date_issued":"2011","date_published":"2011","updated_at":"2026-07-22T22:22:46Z","subjects":[],"languages":["eng"],"rights":[],"rights_urls":[],"identifier_entries":[]},"links":{"outbound_url":"http://hdl.handle.net/11427/10007","outbound_label":"Handle","outbound_source":"dc:identifier.uri"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:contributor.advisor","label":"Advisor","values":["Ramesar, Raj"]},{"key":"dc:creator","label":"Author","values":["Akinyi, Maureen Veronica"]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:date.accessioned","label":"Dc Date Accessioned","values":["2014-12-25T15:54:11Z"]},{"key":"dc:date.available","label":"Dc Date Available","values":["2014-12-25T15:54:11Z"]},{"key":"dc:date.issued","label":"Date","values":["2011"]},{"key":"dc:publisher.department","label":"Dc Publisher Department","values":["Division of Human Genetics"]},{"key":"dc:publisher.institution","label":"Dc Publisher Institution","values":["University of Cape Town"]},{"key":"dc:type","label":"Dc Type","values":["Master Thesis"]},{"key":"dc:type.qualificationlevel","label":"Dc Type Qualificationlevel","values":["Masters"]},{"key":"dc:type.qualificationname","label":"Dc Type Qualificationname","values":["MSc"]}]},{"id":"language_rights","label":"Language and Rights","entries":[{"key":"dc:language.iso","label":"Language (ISO)","values":["eng"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier.uri","label":"Identifier URI","values":["http://hdl.handle.net/11427/10007"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description.abstract","label":"Abstract","values":["Retinitis Pigmentosa (RP) is a group of heterogeneous retinal degenerative diseases that predominantly affect rod photoreceptor cells. Symptoms include night blindness and gradual peripheral vision loss, which progresses to a complete loss of vision. Clinical, phenotypic and genetic heterogeneity are frequently observed in RP. Mutations in Rhodopsin (RHO) have been identified as a major cause of RP. A sequence variant identified in the 5' untranslated region of RHO, g.269A>G, also known as c.-26A>G, was proposed to increase the risk of developing RP. In this study, the functional effect of this variant, individually and in cis with known pathogenic variants, was investigated using mammalian cell lines in order to determine whether the variant is a modifier of disease phenotype."]},{"key":"dc:title","label":"Title","values":["Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype"]}]}],"canonical_facts":{"dc:contributor.advisor":["Ramesar, Raj"],"dc:creator":["Akinyi, Maureen Veronica"],"dc:date.accessioned":["2014-12-25T15:54:11Z"],"dc:date.available":["2014-12-25T15:54:11Z"],"dc:date.issued":["2011"],"dc:description.abstract":["Retinitis Pigmentosa (RP) is a group of heterogeneous retinal degenerative diseases that predominantly affect rod photoreceptor cells. Symptoms include night blindness and gradual peripheral vision loss, which progresses to a complete loss of vision. Clinical, phenotypic and genetic heterogeneity are frequently observed in RP. Mutations in Rhodopsin (RHO) have been identified as a major cause of RP. A sequence variant identified in the 5' untranslated region of RHO, g.269A>G, also known as c.-26A>G, was proposed to increase the risk of developing RP. In this study, the functional effect of this variant, individually and in cis with known pathogenic variants, was investigated using mammalian cell lines in order to determine whether the variant is a modifier of disease phenotype."],"dc:identifier.uri":["http://hdl.handle.net/11427/10007"],"dc:language.iso":["eng"],"dc:publisher.department":["Division of Human Genetics"],"dc:publisher.institution":["University of Cape Town"],"dc:title":["Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype"],"dc:type":["Master Thesis"],"dc:type.qualificationlevel":["Masters"],"dc:type.qualificationname":["MSc"]},"updated_at":"2026-07-22T22:22:46Z"}