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纤毛与纤毛病:从衣藻说起及其他

Cilia and ciliopathies: from Chlamydomonas and beyond.

作者信息

Pan Junmin

机构信息

Department of Biological Sciences and Biotechnology, Tsinghua University, Beijing 100084, China.

出版信息

Sci China C Life Sci. 2008 Jun;51(6):479-86. doi: 10.1007/s11427-008-0071-3. Epub 2008 May 17.

Abstract

The biological function of motile cilia/flagella has long been recognized. The non-motile primary cilium, once regarded as a vestigial organelle, however, has been found recently to play unexpected roles in mammalian physiology and development. Defects in cilia have profound impact on human health. Diseases related to cilia, collectively called ciliopathies include male infertility, primary cilia dyskinesia, renal cyst formation, blindness, polydactyly, obesity, hypertension, and even mental retardation. Our current understanding of cilia and ciliopathies has been fueled by basic research employing various model organisms including Chlamydomonas, a unicellular green alga. This review article provides a general introduction to the cell biology of cilia and an overview of various cilia-related diseases.

摘要

运动性纤毛/鞭毛的生物学功能早已为人所知。然而,曾经被视为残余细胞器的非运动性初级纤毛,最近被发现在哺乳动物的生理和发育过程中发挥着意想不到的作用。纤毛缺陷对人类健康有深远影响。与纤毛相关的疾病统称为纤毛病,包括男性不育、原发性纤毛运动障碍、肾囊肿形成、失明、多指畸形、肥胖、高血压,甚至智力迟钝。我们目前对纤毛和纤毛病的理解得益于使用包括单细胞绿藻衣藻在内的各种模式生物进行的基础研究。这篇综述文章对纤毛的细胞生物学进行了总体介绍,并概述了各种与纤毛相关的疾病。

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