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

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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Main Author: Laguette, Mary-Jessica Nancy
Other Authors: Collins, Malcolm
Format: Thesis
Language:English
Published: MRC/UCT RU for Exercise and Sport Medicine 2015
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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