Establishing a connection between cilia and Bardet-Biedl Syndrome |
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Authors: | Mykytyn Kirk Sheffield Val C |
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Affiliation: | Department of Pharmacology and Division of Human Genetics, Ohio State University, Columbus, 43210, USA. |
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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. |
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