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Trends Mol Med. 2004 Mar;10(3):106-9.

Establishing a connection between cilia and Bardet-Biedl Syndrome.

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1
Department of Pharmacology and Division of Human Genetics, Ohio State University, Columbus, 43210, USA.

Abstract

Bardet-Biedl Syndrome (BBS) is a gentic disorder with primary features of retinal dystrophy, obesity, polydactyly, structural and functional renal abnormalities, and learning disabilities. In addition to displaying remarkable pleiotropy, BBS is a heterogeneous disorder with linkage to at least eight loci. The identification of the first five BBS genes provided little insight into BBS protein function. Ansley at al. have now identified a sixth BBS gene (BBS8) and provide evidence that the BBS8 protein and other BBS proteins localize to the basal body of ciliated cells, suggesting that BBS is a ciliary dysfunction disorder.

PMID:
15106604
[Indexed for MEDLINE]
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