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Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype
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 ar...
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| Format: | Thesis |
| Language: | English |
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Division of Human Genetics
2014
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| _version_ | 1867613189002231808 |
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| access_status_str | Open Access |
| author | Akinyi, Maureen Veronica |
| author2 | Ramesar, Raj |
| author_browse | Akinyi, Maureen Veronica Ramesar, Raj |
| author_facet | Ramesar, Raj Akinyi, Maureen Veronica |
| author_sort | Akinyi, Maureen Veronica |
| collection | Thesis |
| description | 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. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/10007 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:32:11.035Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2014 |
| publishDateRange | 2014 |
| publishDateSort | 2014 |
| publisher | Division of Human Genetics |
| publisherStr | Division of Human Genetics |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/10007 Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype Akinyi, Maureen Veronica Ramesar, Raj Human Genetics 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. 2014-12-25T15:54:11Z 2014-12-25T15:54:11Z 2011 Master Thesis Masters MSc http://hdl.handle.net/11427/10007 eng application/pdf Division of Human Genetics Faculty of Health Sciences University of Cape Town |
| spellingShingle | Human Genetics Akinyi, Maureen Veronica Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype |
| thesis_degree_str | Master's |
| title | Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype |
| title_full | Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype |
| title_fullStr | Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype |
| title_full_unstemmed | Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype |
| title_short | Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype |
| title_sort | functional analysis of a 5 untranslated variant in rhodopsin implications for the retinitis pigmentosa phenotype |
| topic | Human Genetics |
| url | http://hdl.handle.net/11427/10007 |
| work_keys_str_mv | AT akinyimaureenveronica functionalanalysisofa5untranslatedvariantinrhodopsinimplicationsfortheretinitispigmentosaphenotype |