Establishing a connection between cilia and Bardet-Biedl Syndrome

被引：65

作者：

Mykytyn, K

Sheffield, VC ^{[1
]}

机构：

[1] Univ Iowa, Howard Hughes Med Inst, Div Med Genet, Dept Pediat, Iowa City, IA 52242 USA

[2] Ohio State Univ, Dept Pharmacol, Columbus, OH 43210 USA

[3] Ohio State Univ, Div Human Genet, Columbus, OH 43210 USA

来源：

TRENDS IN MOLECULAR MEDICINE | 2004年 / 10卷 / 03期

关键词：

D O I：

10.1016/j.molmed.2004.01.003

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Bardet-Biedl Syndrome (BBS) is a genetic disorder with the 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 BIBS protein function. Ansley et 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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页码：106 / 109

页数：4

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