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

Das Bardet-Biedl-Syndrom ist eine seltene Entwicklungsstörung mit sechs Kardinalsymptomen: Adipositas, Retinopathie, Polydaktylie, Nephropathien, Hypogenitalismus und mentale Retardierung. Es sind elf Gene detektiert worden, deren Mutation einzeln oder kombiniert zur Ausprägung des Bardet-Biedl-Synd...

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Bibliographic Details
Main Author: Hermesmeier, Andrea
Contributors: Grzeschik, Karl-Heinz (Prof. Dr.) (Thesis advisor)
Format: Dissertation
Language:German
Published: Philipps-Universität Marburg 2006
Humangenetik
Subjects:
BBS
Online Access:PDF Full Text
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Table of Contents: 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.