Zeng Peng, Shen Tao
Medical School, Kunming University of Technology, Kunming, Yunnan 650594, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Apr 10;35(2):288-292. doi: 10.3760/cma.j.issn.1003-9406.2018.02.033.
Bardet-Biedl syndrome (BBS) is a rare genetic disease caused by ciliary structure abnormality or dysfunction. To date, more than 21 BBS genes (BBS1 - 21) have been reported to independently cause the disorder. Although the cellular functions of BBS proteins are not yet fully understood, model organisms have revealed that such proteins are involved in ciliary functions and intracellular transport. Among the 21 BBS genes, BBS7 is unique in that its product is a subunit of the BBSome and can directly interact with the BBS chaperonin complex. Previous studies using animal models showed that BBS7 mutation can cause similar phenotypes to human patients, and human disease caused by BBS7 variants are special and more complex. This article reviewed recent progresses on BBS7.
巴德-比埃尔综合征（BBS）是一种由纤毛结构异常或功能障碍引起的罕见遗传病。迄今为止，已有超过21个BBS基因（BBS1 - 21）被报道可独立导致该疾病。尽管BBS蛋白的细胞功能尚未完全明确，但模式生物研究表明，这些蛋白参与纤毛功能和细胞内运输。在这21个BBS基因中，BBS7独具特色，其产物是BBSome的一个亚基，并且能直接与BBS伴侣蛋白复合体相互作用。以往利用动物模型开展的研究表明，BBS7突变可导致与人类患者相似的表型，且由BBS7变异引起的人类疾病具有特殊性和复杂性。本文综述了BBS7的最新研究进展。
