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

JB Li, JM Gerdes, CJ Haycraft, Y Fan, TM Teslovich… - Cell, 2004 - cell.com
JB Li, JM Gerdes, CJ Haycraft, Y Fan, TM Teslovich, H May-Simera, H Li, OE Blacque, L Li…
Cell, 2004cell.com
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 …
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.
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