Item type:Thesis, Open Access

Analyse von Proteininteraktionen beim Bardet-Biedl-Syndrom mit Hilfe des Yeast-Two-Hybrid-Systems

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Date

2006-12-21

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Philipps-Universität Marburg
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Abstract

Bardet-Biedl syndrome is a rare, developmental disorder characterized by six major symptoms: rod-cone dystrophy, obesity, postaxial polydactyly, renal abnormalities, learning difficulties and hypogonadism in males. Secondary features include cardiac and hepatic anomalies, hypertension, diabetes and hearing loss. BBS is genetically heterogeneous with 11 disease genes (BBS1 – BBS11) described thus far. Current data suggest a functional disturbance in ciliary function and intraflagellar transport being associated with the phenotype. However, the precise functions of the BBS proteins have yet to be elucidated. This study focuses on the detection of protein factors interacting with BBS proteins. Applying yeast two-hybrid (Y2H) technology we found a series of novel, functionally plausible binding partners of BBS4. These factors include enzymes like aldolase B (ALDOB) or aminoacylase 1 (ACY1), transcription factors (EPAS1, FHOD1, FLOT1, PAX2) and components of the cytoskeleton (ACTB, KRT18). Furthermore interactions between BBS4 protein and BBS2 and BBS7 proteins has been detected. Our work provides new insights into the understanding of BBS interactions and thus their biological function.

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Dates
Created: 2006Issued: 2006-12-21Updated: 2011-08-10
DOI
https://doi.org/10.17192/z2006.0860
Faculty
Medizin
Publisher
Philipps-Universität Marburg
Language
ger
Data types
DoctoralThesis
Keywords
BBSEPAS1BBSBardet-Biedl-syndromeACTBEPAS1ACTBBardet-Biedl-Syndrom
DFG-subjects
ZellskelettYeast-Two-Hybrid-System
DDC-Numbers
610
License
https://rightsstatements.org/vocab/InC-NC/1.0/
URI
https://open.uni-marburg.de/handle/10.17192/z2006.0860
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Hermesmeier, Andrea (132363577): Analyse von Proteininteraktionen beim Bardet-Biedl-Syndrom mit Hilfe des Yeast-Two-Hybrid-Systems. : Philipps-Universität Marburg 2006-12-21. DOI: https://doi.org/10.17192/z2006.0860.

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This item has been published with the following license: In Copyright