Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

Jin Billy Li, Jantje M. Gerdes, Courtney J. Haycraft, Yanli Fan, Tanya M. Teslovich, Helen May-Simera, Haitao Li, Oliver E. Blacque, Linya Li, Carmen C. Leitch, Richard Allan Lewis, Jane S. Green, Patrick S. Parfrey, Michel R. Leroux, William S. Davidson, Philip L. Beales, Lisa M. Guay-Woodford, Bradley K. Yoder, Gary D. Stormo, Nicholas KatsanisSusan K. Dutcher

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567 Scopus citations

Abstract

Cilia and flagella are microtubule-based structures nucleated by modified centrioles termed basal bodies. These biochemically complex organelles have more than 250 and 150 polypeptides, respectively. To identify the proteins involved in ciliary and basal body biogenesis and function, we undertook a comparative genomics approach that subtracted the nonflagellated proteome of Arabidopsis from the shared proteome of the ciliated/flagellated organisms Chlamydomonas and human. We identified 688 genes that are present exclusively in organisms with flagella and basal bodies and validated these data through a series of in silico, in vitro, and in vivo studies. We then applied this resource to the study of human ciliation disorders and have identified BBS5, a novel gene for Bardet-Biedl syndrome. We show that this novel protein localizes to basal bodies in mouse and C. elegans, is under the regulatory control of daf-19, and is necessary for the generation of both cilia and flagella.

Original languageEnglish
Pages (from-to)541-552
Number of pages12
JournalCell
Volume117
Issue number4
DOIs
StatePublished - May 14 2004

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    Li, J. B., Gerdes, J. M., Haycraft, C. J., Fan, Y., Teslovich, T. M., May-Simera, H., Li, H., Blacque, O. E., Li, L., Leitch, C. C., Lewis, R. A., Green, J. S., Parfrey, P. S., Leroux, M. R., Davidson, W. S., Beales, P. L., Guay-Woodford, L. M., Yoder, B. K., Stormo, G. D., ... Dutcher, S. K. (2004). Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell, 117(4), 541-552. https://doi.org/10.1016/S0092-8674(04)00450-7