Making Sense of Cilia in Disease: The Human Cilloplathies
Making Sense of Cilia in Disease: The Human Cilloplathies
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DOI：
10.1002/ajmg.c.30231
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发表时间：
2009-11-15
影响因子：
3.1
通讯作者：
Beales, Philip L.
中科院分区：
文献类型：
--
作者：
Baker, Kate;Beales, Philip L.
在自然界中，纤毛和鞭毛是由几乎相同的结构和相似的功能组成的。后者最明显的例子是运动性：在固定结构中驱动生物体或颗粒流过上皮表面的运动。在脊椎动物中，这种可运动的纤毛在呼吸上皮、室管膜和输卵管中很明显。一个多世纪以来，人们在大多数脊椎动物细胞表面观察到非运动纤毛，但直到最近，我们才发现它们的功能。现在，越来越多的证据表明，单纤毛在感知细胞外环境方面起着关键作用，这种功能的扰动会引起一系列可预测的临床问题。我们回顾了与纤毛病相关的常见临床表型，并询问了人类在线孟德尔遗传（OMIM），以编制一份全面的假定疾病清单，其中纤毛功能障碍可能起作用。(C) 2009 Wiley-Liss, Inc。
Ubiquitous in nature, cilia and flagella comprise nearly identical structures with similar functions. The most obvious example of the latter is motility: driving movement of the organism or particle flow across the epithelial surface in fixed structures. In vertebrates, such motile cilia are evident in the respiratory epithelia, ependyma, and oviducts. For over a century, non-motile cilia have been observed on the surface of most vertebrate cells but until recently their function has eluded us. Gathering evidence now points to critical roles for the mono-cilium in sensing the extracellular environment, and perturbation of this function gives rise to a predictable panoply of clinical problems. We review the common clinical phenotypes associated with ciliopathies and interrogate Online Mendelian Inheritance in Man (OMIM) to compile a comprehensive list of putative disorders in which ciliary dysfunction may play a role. (C) 2009 Wiley-Liss, Inc.