Cilia and centrosomes: A unifying pathogenic concept for cystic kidney disease?

被引：225

作者：

Hildebrandt, F

Otto, E

机构：

[1] Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA

[2] Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA

来源：

NATURE REVIEWS GENETICS | 2005年 / 6卷 / 12期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1038/nrg1727

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Cystic kidney diseases are among the most frequent lethal genetic diseases. Positional cloning of novel cystic kidney disease genes revealed that their products (cystoproteins) are expressed in sensory organelles called primary cilia, in basal bodies or in centrosomes. Primary cilia link mechanosensory, visual, osmotic, gustatory and other stimuli to mechanisms of cell-cycle control and epithelial cell polarity. The ciliary expression of cystoproteins explains why many other organs might be also affected in patients with cystic kidney disease. Protein-protein interactions among cystoproteins, and their strong evolutionary conservation, provide a basis for a multidisciplinary approach to unravelling the novel signalling mechanisms that are involved in this disease group.

引用

页码：928 / 940

页数：13

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