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dc.contributor.advisorHoldener, Bernadette C, Brown, Deborah Aen_US
dc.contributor.authorTaibi, Andrewen_US
dc.contributor.otherDepartment of Biochemistry and Cell Biologyen_US
dc.date.accessioned2013-05-22T17:35:41Z
dc.date.available2013-05-22T17:35:41Z
dc.date.issued1-Dec-12en_US
dc.date.submitted12-Decen_US
dc.identifierTaibi_grad.sunysb_0771M_11222en_US
dc.identifier.urihttp://hdl.handle.net/1951/59884
dc.description39 pg.en_US
dc.description.abstractADAMTSL2 has been shown to play a role in regulation of Transforming Growth Factor β (TGFβ) signaling through binding Latent TGFβ Binding Protein 1 (LTBP1) and Fibrillin 1 (FBN1) in the extracellular matrix. A genetic screen revealed mutations to Adamtsl2 cause a rare growth disorder called Geleophysic Dysplasia (GD). Multiple GD mutations fall within ADAMTSL2's seven Thrombospondin Type 1 Repeats (TSRs). TSRs often undergo a form of glycosylation called O-fucosylation. The addition of a fucose sugar to TSRs has been shown to be a necessary process in the secretion of related proteins. Among several mutations to ADAMTSL2 within TSRs which cause GD, two are predicted to interfere with O-fucosylation. In this study we reproduced these two GD-associated mutations as well as three additional mutations predicted to interfere with glycosylation in an unusual O-fucosylation site on TSR6. The predicted O-fucose site on TSR6 actually overlaps with a predicted site of N-glycosylation. Our three TSR6 mutant constructs were designed to both address which type of modification is occurring as well as its importance in protein secretion. We utilized expression constructs incorporating these mutations in parallel transactions to assay their effect on protein secretion in 293T cells. We predict that mutations predicted to affect O-fucosylation will impair secretion, while our mutation interfering with N-glycosylation will not. In this way we hope to provide a functional link between mutations to ADAMTSL2 and GD.en_US
dc.description.sponsorshipStony Brook University Libraries. SBU Graduate School in Department of Biochemistry and Cell Biology. Charles Taber (Dean of Graduate School).en_US
dc.formatElectronic Resourceen_US
dc.language.isoen_USen_US
dc.publisherThe Graduate School, Stony Brook University: Stony Brook, NY.en_US
dc.subject.lcshBiology--Biochemistryen_US
dc.titleIdentification of Functional Glycosylation of ADAMTSL2en_US
dc.typeThesisen_US
dc.description.advisorAdvisor(s): Holdener, Bernadette C; Brown, Deborah A. Committee Member(s):en_US
dc.mimetypeApplication/PDFen_US


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