Novel interaction partners of Bardet‐Biedl syndrome proteins

F Oeffner, C Moch, A Neundorf… - Cell Motility and the …, 2008 - Wiley Online Library
F Oeffner, C Moch, A Neundorf, J Hofmann, M Koch, KH Grzeschik
Cell Motility and the Cytoskeleton, 2008Wiley Online Library
Bardet‐Biedl syndrome (BBS) is a rare, developmental disorder characterized by six major
symptoms: rod‐cone dystrophy, obesity, polydactyly, renal abnormalities, learning
difficulties, and hypogonadism. Secondary features include cardiac and hepatic anomalies,
metabolic disturbancies, and hearing loss. BBS is genetically heterogeneous with 12
disease genes (BBS1–BBS12) described thus far. Current data suggest a functional
disturbance in ciliary function and intraflagellar transport being associated with the …
Abstract
Bardet‐Biedl syndrome (BBS) is a rare, developmental disorder characterized by six major symptoms: rod‐cone dystrophy, obesity, polydactyly, renal abnormalities, learning difficulties, and hypogonadism. Secondary features include cardiac and hepatic anomalies, metabolic disturbancies, and hearing loss. BBS is genetically heterogeneous with 12 disease genes (BBS1BBS12) 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 potentially plausible binding partners of BBS1, BBS2, BBS4, and BBS7. Protein interactions were supported by coimmunoprecipitation analyses (ALDOB, EPAS1) and substantiated by colocalization studies at the subcellular level (ALDOB, EXOC7, FLOT1, KRT18, PAX2). Our work provides new insights into the understanding of BBS interactions and thus their biological function. Cell Motil. Cytoskeleton 2007. © 2007 Wiley‐Liss, Inc.
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