摘要
【摘要】巴德-毕氏综合征(Bardet-Biedlsyndrome,BBS)是一种罕见的遗传病,其发病机制为纤毛结构或功能异常。研究者迄今已发现21种基因(BBS1~21)可独立导致BBS表型。尽管BBS基因的蛋白质产物的功能尚不完全清楚,但借助模式生物,研究者已揭示BBS蛋白参与纤毛功能及细胞内运输等,其中BBS7既是BBSome的一个的独立亚基,又可以通过直接结合BBS的分子伴侣形成复合物,参与相关的调控活动。携带BBS7突变的动物的病理特征与人类患者十分接近,而人类BBS7的发病尚有许多未知的领域。本文对BBS7的研究进行了综述。
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 .
作者
曾鹏
沈涛
Zeng Peng , Shen Tao(Medical School, Kunming University of Technology, Kunming, Yunnan 650594, China (Zeng P); The First People's Hospital of Yunnan Province, Yunnan Provincial Institute of Clinical and Basic Medicine, Yunnan Provincial Key Laboratory for Birth Defect and Genetic Disease Research, Kunming, Yunnan 650032, China (Zeng P, Shen T)
出处
《中华医学遗传学杂志》
CAS
CSCD
2018年第2期288-292,共5页
Chinese Journal of Medical Genetics
基金
国家自然科学基金(81360102)
云南省卫生厅人才培养计划(D-201203)
云南省科技厅后备人才培养计划(2013HB084)