Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.
Cell
; 117(4): 541-52, 2004 May 14.
Article
em En
| MEDLINE
| ID: mdl-15137946
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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Base de dados:
MEDLINE
Assunto principal:
Proteínas
/
Cílios
/
Síndrome de Bardet-Biedl
/
Proteoma
/
Flagelos
Tipo de estudo:
Prognostic_studies
Limite:
Animals
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Cell
Ano de publicação:
2004
Tipo de documento:
Article
País de afiliação:
Estados Unidos