Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome

Stephen J. Ansley, Jose L. Badano, Oliver E. Blacque, Josephine Hill, Bethan E. Hoskins, Carmen C. Leitch, Jun Chul Kim, Alison J. Ross, Erica R. Eichers, Tanya M. Teslovich, Allan K. Mah, Robert C. Johnsen, John C. Cavender, Richard Alan Lewis, Michel R. Leroux, Philip L. Beales and Nicholas Katsanis ()
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Stephen J. Ansley: Institute of Genetic Medicine, Johns Hopkins University
Jose L. Badano: Institute of Genetic Medicine, Johns Hopkins University
Oliver E. Blacque: Simon Fraser University
Josephine Hill: University College London
Bethan E. Hoskins: Institute of Genetic Medicine, Johns Hopkins University
Carmen C. Leitch: Institute of Genetic Medicine, Johns Hopkins University
Jun Chul Kim: Simon Fraser University
Alison J. Ross: University College London
Erica R. Eichers: Baylor College of Medicine
Tanya M. Teslovich: Institute of Genetic Medicine, Johns Hopkins University
Allan K. Mah: Simon Fraser University
Robert C. Johnsen: Simon Fraser University
John C. Cavender: King Khaled Eye Hospital
Richard Alan Lewis: Baylor College of Medicine
Michel R. Leroux: Simon Fraser University
Philip L. Beales: University College London
Nicholas Katsanis: Institute of Genetic Medicine, Johns Hopkins University

Nature, 2003, vol. 425, issue 6958, 628-633

Abstract: Abstract Bardet–Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized primarily by retinal dystrophy, obesity, polydactyly, renal malformations and learning disabilities. Although five BBS genes have been cloned1,2,3,4,5,6, the molecular basis of this syndrome remains elusive. Here we show that BBS is probably caused by a defect at the basal body of ciliated cells. We have cloned a new BBS gene, BBS8, which encodes a protein with a prokaryotic domain, pilF, involved in pilus formation and twitching mobility. In one family, a homozygous null BBS8 mutation leads to BBS with randomization of left–right body axis symmetry, a known defect of the nodal cilium. We have also found that BBS8 localizes specifically to ciliated structures, such as the connecting cilium of the retina and columnar epithelial cells in the lung. In cells, BBS8 localizes to centrosomes and basal bodies and interacts with PCM1, a protein probably involved in ciliogenesis. Finally, we demonstrate that all available Caenorhabditis elegans BBS homologues are expressed exclusively in ciliated neurons, and contain regulatory elements for RFX, a transcription factor that modulates the expression of genes associated with ciliogenesis and intraflagellar transport.

Date: 2003
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DOI: 10.1038/nature02030

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