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


Journal Article

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.

Full Text

Cited Authors

  • Li, JB; Gerdes, JM; Haycraft, CJ; Fan, Y; Teslovich, TM; May-Simera, H; Li, H; Blacque, OE; Li, L; Leitch, CC; Lewis, RA; Green, JS; Parfrey, PS; Leroux, MR; Davidson, WS; Beales, PL; Guay-Woodford, LM; Yoder, BK; Stormo, GD; Katsanis, N; Dutcher, SK

Published Date

  • May 14, 2004

Published In

Volume / Issue

  • 117 / 4

Start / End Page

  • 541 - 552

PubMed ID

  • 15137946

Pubmed Central ID

  • 15137946

International Standard Serial Number (ISSN)

  • 0092-8674

Digital Object Identifier (DOI)

  • 10.1016/s0092-8674(04)00450-7


  • eng

Conference Location

  • United States