Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport

Oliver E. Blacque, Michael J. Reardon, Chunmei Li, Jonathan McCarthy, Moe R. Mahjoub, Stephen J. Ansley, Jose L. Badano, Allan K. Mah, Philip L. Beales, William S. Davidson, Robert C. Johnsen, Mark Audeh, Ronald H.A. Plasterk, David L. Baillie, Elias Nicholas Katsanis, Lynne M. Quarmby, Stephen R. Wicks, Michel R. Leroux*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

262 Scopus citations

Abstract

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 biogenesis and maintenance, move bidirectionally along the ciliary axoneme. Importantly, we demonstrate that BBS-7 and BBS-8 are required for the normal localization/motility of the IFT proteins OSM-5/Polaris and CHE-11, and to a notably lesser extent, CHE-2. We propose that BBS proteins play important, selective roles in the assembly and/or function of IFT particle components. Our findings also suggest that some of the cardinal and secondary symptoms of BBS, such as obesity, diabetes, cardiomyopathy, and learning defects may result from cilia dysfunction.

Original languageEnglish (US)
Pages (from-to)1630-1642
Number of pages13
JournalGenes and Development
Volume18
Issue number13
DOIs
StatePublished - Jul 1 2004

Keywords

  • BBS proteins
  • Bardet-Biedl syndrome
  • Basal body
  • Caenorhabditis elegans
  • Cilia and flagella
  • Intraflagellar transport

ASJC Scopus subject areas

  • Genetics
  • Developmental Biology

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