Adams M, Smith U M, Logan C V, Johnson C A
Section of Opthalmology & Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK.
J Med Genet. 2008 May;45(5):257-67. doi: 10.1136/jmg.2007.054999. Epub 2008 Jan 4.
Primary cilia have a broad tissue distribution and are present on most cell types in the human body. Until recently, they were considered to be redundant organelles, but progress over the past 5 years has led to an understanding of their role in normal mammalian development. The class of inherited disorders that involve aberrant ciliary function are known as ciliopathies, and although their range of severity can vary, they share some common and unexpected clinical phenotypes. The aim of this review is to assess recent insights into the structure, function and formation of primary cilia, and relate this to the pathology, molecular genetics and cell biology of the ciliopathies.
原发性纤毛具有广泛的组织分布，存在于人体的大多数细胞类型上。直到最近，它们还被认为是多余的细胞器，但过去5年的研究进展使人们对其在正常哺乳动物发育中的作用有了认识。涉及纤毛功能异常的一类遗传性疾病被称为纤毛病，尽管其严重程度范围有所不同，但它们具有一些共同且意想不到的临床表型。本综述的目的是评估对原发性纤毛的结构、功能和形成的最新见解，并将其与纤毛病的病理学、分子遗传学和细胞生物学联系起来。
