This dissertation describes pharmacological studies of the functional consequences of the Cys23Ser single nucleotide polymorphism (SNP) in two different edited versions of the human 5-HT2C receptor as well as evaluation of this SNP in a population of well characterized depressed patients. I discovered that the Cys23Ser SNP has no functional consequences when expressed in a variety of cells in culture, although there were positive associations with endophenotypes of major depressive disorder (MDD). Upon examining other SNPs that could be in linkage disequilibrium with the Cys23Ser SNP, I found that a functional SNP in the 5-HT2C promoter (-697G/C) is closely linked to the Cys23Ser SNP. Therefore, these results suggest the non-functional Cys23Ser SNP associates with disease states because it is closely linked to the functional -697G/C promoter polymorphism in the 5-HT2C receptor.
| Identifer | oai:union.ndltd.org:VANDERBILT/oai:VANDERBILTETD:etd-06202005-085733 |
| Date | 12 July 2005 |
| Creators | Fentress, Hugh Montrell |
| Contributors | Rich Breyer, Randy Blakely, Ronald Emeson, Alfred George, Elaine Sanders-Bush |
| Publisher | VANDERBILT |
| Source Sets | Vanderbilt University Theses |
| Language | English |
| Detected Language | English |
| Type | text |
| Format | application/pdf |
| Source | http://etd.library.vanderbilt.edu/available/etd-06202005-085733/ |
| Rights | unrestricted, I hereby certify that, if appropriate, I have obtained and attached hereto a written permission statement from the owner(s) of each third party copyrighted matter to be included in my thesis, dissertation, or project report, allowing distribution as specified below. I certify that the version I submitted is the same as that approved by my advisory committee. I hereby grant to Vanderbilt University or its agents the non-exclusive license to archive and make accessible, under the conditions specified below, my thesis, dissertation, or project report in whole or in part in all forms of media, now or hereafter known. I retain all other ownership rights to the copyright of the thesis, dissertation or project report. I also retain the right to use in future works (such as articles or books) all or part of this thesis, dissertation, or project report. |
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