Article
Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport.
Genes & development - 1 Jul 2004
Blacque Oliver E, Reardon Michael J, Li Chunmei, McCarthy Jonathan, Mahjoub Moe R, Ansley Stephen J, Badano Jose L, Mah Allan K, Beales Philip L, Davidson William S, Johnsen Robert C, Audeh Mark, Plasterk Ronald H A, Baillie David L, Katsanis Nicholas, Quarmby Lynne M, Wicks Stephen R, Leroux Michel R
Abstract excerpt
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous developmental disorder whose molecular basis is largely unknown. Here, we show that mutations in the Caenorhabditis elegans bbs-7 and bbs-8 genes cause structural and functional defects in cilia. C. elegans BBS proteins localize predominantly at the base of cilia, and like proteins involved in intraflagellar transport (IFT), a process necessary for cilia...
Topics
- Adaptor Proteins, Signal Transducing
- Animals
- Animals, Genetically Modified
- Caenorhabditis elegans
- Caenorhabditis elegans Proteins
- Chemotaxis
- Cilia
- Cytoskeletal Proteins