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COL5A1 encodes the α1 chain of type V collagen, a minor fibrillar collagen that is an important regulator of collagen fibril assembly. A polymorphism (rs12722, C/T) within the 3'-untranslated region (UTR) of COL5A1 is associated with chronic Achilles tendinopathy (TEN) and other soft tissue injuries...
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| Format: | Thesis |
| Language: | English |
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MRC/UCT RU for Exercise and Sport Medicine
2015
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| _version_ | 1867613216382648320 |
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| access_status_str | Open Access |
| author | Laguette, Mary-Jessica Nancy |
| author2 | Collins, Malcolm |
| author_browse | Collins, Malcolm Laguette, Mary-Jessica Nancy |
| author_facet | Collins, Malcolm Laguette, Mary-Jessica Nancy |
| author_sort | Laguette, Mary-Jessica Nancy |
| collection | Thesis |
| description | COL5A1 encodes the α1 chain of type V collagen, a minor fibrillar collagen that is an important regulator of collagen fibril assembly. A polymorphism (rs12722, C/T) within the 3'-untranslated region (UTR) of COL5A1 is associated with chronic Achilles tendinopathy (TEN) and other soft tissue injuries as well as exercise-related phenotypes. These phenotypes are directly or indirectly associated with the mechanical properties of musculoskeletal soft tissue. It has therefore been hypothesised that variants in the COL5A1 gene, specifically the 3'-UTR, regulate synthesis of the α1(V) chain and type V collagen production. Type V collagen levels in turn regulate fibril architecture and structure and, thereby, mechanical properties of musculoskeletal soft tissues. Although the 3'-UTR of many eukaryotic genes have been shown to play an important regulatory role, the function of the COL5A1 3'-UTR is currently unknown. Aim. The primary aim of this thesis was therefore to determine whether the COL5A1 3'-UTR was functional and to identify functional differences between the COL5A1 3'-UTR cloned from participants with TEN and healthy asymptomatic control individuals. The secondary aim was to start mapping the functional regions within the 3'-UTR, focusing on regions which are potentially responsible for contributing to the tendinopathic phenotype. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/15716 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:32:37.404Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2015 |
| publishDateRange | 2015 |
| publishDateSort | 2015 |
| publisher | MRC/UCT RU for Exercise and Sport Medicine |
| publisherStr | MRC/UCT RU for Exercise and Sport Medicine |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/15716 Characterisation of the 3'-UTR of the COL5A1 gene: implication for musculoskeletal soft tissue injuries Laguette, Mary-Jessica Nancy Collins, Malcolm Prince, Sharon Exercise Science and Sports Medicine COL5A1 encodes the α1 chain of type V collagen, a minor fibrillar collagen that is an important regulator of collagen fibril assembly. A polymorphism (rs12722, C/T) within the 3'-untranslated region (UTR) of COL5A1 is associated with chronic Achilles tendinopathy (TEN) and other soft tissue injuries as well as exercise-related phenotypes. These phenotypes are directly or indirectly associated with the mechanical properties of musculoskeletal soft tissue. It has therefore been hypothesised that variants in the COL5A1 gene, specifically the 3'-UTR, regulate synthesis of the α1(V) chain and type V collagen production. Type V collagen levels in turn regulate fibril architecture and structure and, thereby, mechanical properties of musculoskeletal soft tissues. Although the 3'-UTR of many eukaryotic genes have been shown to play an important regulatory role, the function of the COL5A1 3'-UTR is currently unknown. Aim. The primary aim of this thesis was therefore to determine whether the COL5A1 3'-UTR was functional and to identify functional differences between the COL5A1 3'-UTR cloned from participants with TEN and healthy asymptomatic control individuals. The secondary aim was to start mapping the functional regions within the 3'-UTR, focusing on regions which are potentially responsible for contributing to the tendinopathic phenotype. 2015-12-09T14:39:20Z 2015-12-09T14:39:20Z 2015 Doctoral Thesis Doctoral PhD http://hdl.handle.net/11427/15716 eng application/pdf MRC/UCT RU for Exercise and Sport Medicine Faculty of Health Sciences University of Cape Town |
| spellingShingle | Exercise Science and Sports Medicine Laguette, Mary-Jessica Nancy Characterisation of the 3'-UTR of the COL5A1 gene: implication for musculoskeletal soft tissue injuries |
| thesis_degree_str | Doctoral |
| title | Characterisation of the 3'-UTR of the COL5A1 gene: implication for musculoskeletal soft tissue injuries |
| title_full | Characterisation of the 3'-UTR of the COL5A1 gene: implication for musculoskeletal soft tissue injuries |
| title_fullStr | Characterisation of the 3'-UTR of the COL5A1 gene: implication for musculoskeletal soft tissue injuries |
| title_full_unstemmed | Characterisation of the 3'-UTR of the COL5A1 gene: implication for musculoskeletal soft tissue injuries |
| title_short | Characterisation of the 3'-UTR of the COL5A1 gene: implication for musculoskeletal soft tissue injuries |
| title_sort | characterisation of the 3 utr of the col5a1 gene implication for musculoskeletal soft tissue injuries |
| topic | Exercise Science and Sports Medicine |
| url | http://hdl.handle.net/11427/15716 |
| work_keys_str_mv | AT laguettemaryjessicanancy characterisationofthe3utrofthecol5a1geneimplicationformusculoskeletalsofttissueinjuries |