Characterisation of the 3'-UTR of the COL5A1 gene: implication for musculoskeletal soft tissue injuries

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dc.contributor.advisorCollins, Malcolmen_ZA
dc.contributor.advisorPrince, Sharonen_ZA
dc.contributor.authorLaguette, Mary-Jessica Nancyen_ZA
dc.date.accessioned2015-12-09T14:39:20Z
dc.date.available2015-12-09T14:39:20Z
dc.date.issued2015en_ZA
dc.description.abstractCOL5A1 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.en_ZA
dc.identifier.apacitationLaguette, M. N. (2015). <i>Characterisation of the 3'-UTR of the COL5A1 gene: implication for musculoskeletal soft tissue injuries</i>. (Thesis). University of Cape Town ,Faculty of Health Sciences ,MRC/UCT RU for Exercise and Sport Medicine. Retrieved from http://hdl.handle.net/11427/15716en_ZA
dc.identifier.chicagocitationLaguette, Mary-Jessica Nancy. <i>"Characterisation of the 3'-UTR of the COL5A1 gene: implication for musculoskeletal soft tissue injuries."</i> Thesis., University of Cape Town ,Faculty of Health Sciences ,MRC/UCT RU for Exercise and Sport Medicine, 2015. http://hdl.handle.net/11427/15716en_ZA
dc.identifier.citationLaguette, M. 2015. Characterisation of the 3'-UTR of the COL5A1 gene: implication for musculoskeletal soft tissue injuries. University of Cape Town.en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - Laguette, Mary-Jessica Nancy AB - 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. DA - 2015 DB - OpenUCT DP - University of Cape Town LK - https://open.uct.ac.za PB - University of Cape Town PY - 2015 T1 - Characterisation of the 3'-UTR of the COL5A1 gene: implication for musculoskeletal soft tissue injuries TI - Characterisation of the 3'-UTR of the COL5A1 gene: implication for musculoskeletal soft tissue injuries UR - http://hdl.handle.net/11427/15716 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/15716
dc.identifier.vancouvercitationLaguette MN. Characterisation of the 3'-UTR of the COL5A1 gene: implication for musculoskeletal soft tissue injuries. [Thesis]. University of Cape Town ,Faculty of Health Sciences ,MRC/UCT RU for Exercise and Sport Medicine, 2015 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/15716en_ZA
dc.language.isoengen_ZA
dc.publisher.departmentMRC/UCT RU for Exercise and Sport Medicineen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.subject.otherExercise Science and Sports Medicineen_ZA
dc.titleCharacterisation of the 3'-UTR of the COL5A1 gene: implication for musculoskeletal soft tissue injuriesen_ZA
dc.typeDoctoral Thesis
dc.type.qualificationlevelDoctoral
dc.type.qualificationnamePhDen_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceThesisen_ZA
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