Establishing a connection between cilia and Bardet-Biedl Syndrome
Establishing a connection between cilia and Bardet-Biedl Syndrome
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DOI：
10.1016/j.molmed.2004.01.003
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发表时间：
2004-03-01
影响因子：
13.6
通讯作者：
Sheffield, VC
中科院分区：
文献类型：
--
作者：
Mykytyn, K;Sheffield, VC
Bardet-Biedl 综合征 (BBS) 是一种遗传性疾病，主要特征为视网膜营养不良、肥胖、多指、肾结构和功能异常以及学习障碍。除了表现出显着的多效性外，BBS 是一种与至少 8 个基因座连锁的异质性疾病。前五个 BBS 基因的鉴定对 BIBS 蛋白功能的了解很少。安斯利等人。现在已经确定了第六个 BBS 基因（BBS8），并提供了 BBS8 蛋白和其他 BBS 蛋白定位于纤毛细胞基体的证据，表明 BBS 是一种纤毛功能障碍性疾病。
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.