The functional significance of the G to A point mutation in the promoter region of the Apolipoprotein AI gene

Simple item page
dc.contributor.advisorJeenah, Mohammeden_ZA
dc.contributor.authorWells, Carol Dawnen_ZA
dc.date.accessioned2018-01-30T14:00:35Z
dc.date.available2018-01-30T14:00:35Z
dc.date.issued1993en_ZA
dc.description.abstractAG to A transition at position -76 in the promoter region of the apoAI gene was previously identified, and the A-76 has been shown to be associated with high apoAI levels. The functional significance of the point mutation was assessed by analysing the DNA-protein binding and promoter activities of the different alleles. This data would suggest that the point mutation alters the function of the apoAI promoter as gel retention assays revealed that the G fragment (-140 to +10) formed an extra DNA-protein complex compared to the A fragment (-140 to +10). Concurrent with the altered DNA-protein interaction between the G and the A fragments, the transcriptional activities of the apoAI gene were found to also be altered. CAT assays have indicated a 1.91 fold increase in promoter activity of the A fragment as compared to the G fragment (-256 to +397). The difference in promoter activity was, however, highly dependent on the particular fragment used, as no difference was observed between the alleles when a fragment {-256 to +68) was used. In this study elements were identified in the region +68 to +397 that causes a reduction in the promoter activity of the G allele by 3.6 fold, whilst reducing the A allele activity by 2 fold. This data would suggest that the point mutation functionally alters the apoAI promoter activity via its interaction with other sequences especially in the region +68 to +397.en_ZA
dc.identifier.apacitationWells, C. D. (1993). <i>The functional significance of the G to A point mutation in the promoter region of the Apolipoprotein AI gene</i>. (Thesis). University of Cape Town ,Faculty of Health Sciences ,Division of Medical Biochemistry & Structural Biology. Retrieved from http://hdl.handle.net/11427/27143en_ZA
dc.identifier.chicagocitationWells, Carol Dawn. <i>"The functional significance of the G to A point mutation in the promoter region of the Apolipoprotein AI gene."</i> Thesis., University of Cape Town ,Faculty of Health Sciences ,Division of Medical Biochemistry & Structural Biology, 1993. http://hdl.handle.net/11427/27143en_ZA
dc.identifier.citationWells, C. 1993. The functional significance of the G to A point mutation in the promoter region of the Apolipoprotein AI gene. University of Cape Town.en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - Wells, Carol Dawn AB - AG to A transition at position -76 in the promoter region of the apoAI gene was previously identified, and the A-76 has been shown to be associated with high apoAI levels. The functional significance of the point mutation was assessed by analysing the DNA-protein binding and promoter activities of the different alleles. This data would suggest that the point mutation alters the function of the apoAI promoter as gel retention assays revealed that the G fragment (-140 to +10) formed an extra DNA-protein complex compared to the A fragment (-140 to +10). Concurrent with the altered DNA-protein interaction between the G and the A fragments, the transcriptional activities of the apoAI gene were found to also be altered. CAT assays have indicated a 1.91 fold increase in promoter activity of the A fragment as compared to the G fragment (-256 to +397). The difference in promoter activity was, however, highly dependent on the particular fragment used, as no difference was observed between the alleles when a fragment {-256 to +68) was used. In this study elements were identified in the region +68 to +397 that causes a reduction in the promoter activity of the G allele by 3.6 fold, whilst reducing the A allele activity by 2 fold. This data would suggest that the point mutation functionally alters the apoAI promoter activity via its interaction with other sequences especially in the region +68 to +397. DA - 1993 DB - OpenUCT DP - University of Cape Town LK - https://open.uct.ac.za PB - University of Cape Town PY - 1993 T1 - The functional significance of the G to A point mutation in the promoter region of the Apolipoprotein AI gene TI - The functional significance of the G to A point mutation in the promoter region of the Apolipoprotein AI gene UR - http://hdl.handle.net/11427/27143 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/27143
dc.identifier.vancouvercitationWells CD. The functional significance of the G to A point mutation in the promoter region of the Apolipoprotein AI gene. [Thesis]. University of Cape Town ,Faculty of Health Sciences ,Division of Medical Biochemistry & Structural Biology, 1993 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/27143en_ZA
dc.language.isoengen_ZA
dc.publisher.departmentDivision of Medical Biochemistry and Structural Biology
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.subject.otherApolipoproteins - geneticsen_ZA
dc.subject.otherDNA-Binding Proteins - analysisen_ZA
dc.subject.otherGenetic engineeringen_ZA
dc.subject.otherPoint Mutationen_ZA
dc.subject.otherPromoter Regions (Genetics)en_ZA
dc.subject.otherProtein engineeringen_ZA
dc.titleThe functional significance of the G to A point mutation in the promoter region of the Apolipoprotein AI geneen_ZA
dc.typeMaster Thesis
dc.type.qualificationlevelMasters
dc.type.qualificationnameMSc (Med)en_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceThesisen_ZA
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
thesis_hsf_1993_wells_carol_dawn.pdf
Size:
4.05 MB
Format:
Adobe Portable Document Format
Description:
Download
Collections
Masters