Garcia-Gonzalo Francesc R, Reiter Jeremy F
Departamento de Bioquímica, Facultad de Medicina, and Instituto de Investigaciones Biomédicas Alberto Sols UAM-CSIC, Universidad Autónoma de Madrid, 28029 Madrid, Spain.
Department of Biochemistry and Biophysics, and Cardiovascular Research Institute, University of California, San Francisco, San Francisco, California 94158.
Cold Spring Harb Perspect Biol. 2017 Feb 1;9(2):a028134. doi: 10.1101/cshperspect.a028134.
Cilia are plasma membrane protrusions that act as cellular propellers or antennae. To perform these functions, cilia must maintain a composition distinct from those of the contiguous cytosol and plasma membrane. The specialized composition of the cilium depends on the ciliary gate, the region at the ciliary base separating the cilium from the rest of the cell. The ciliary gate's main structural features are electron dense struts connecting microtubules to the adjacent membrane. These structures include the transition fibers, which connect the distal basal body to the base of the ciliary membrane, and the Y-links, which connect the proximal axoneme and ciliary membrane within the transition zone. Both transition fibers and Y-links form early during ciliogenesis and play key roles in ciliary assembly and trafficking. Accordingly, many human ciliopathies are caused by mutations that perturb ciliary gate function.
纤毛是作为细胞推进器或天线的质膜突起。为了执行这些功能,纤毛必须维持与相邻细胞质和质膜不同的组成。纤毛的特殊组成取决于纤毛门,即纤毛基部将纤毛与细胞其余部分分隔开的区域。纤毛门的主要结构特征是将微管连接到相邻膜的电子致密支柱。这些结构包括将远端基体连接到纤毛膜基部的过渡纤维,以及在过渡区内连接近端轴丝和纤毛膜的Y形连接。过渡纤维和Y形连接均在纤毛发生早期形成,并在纤毛组装和运输中起关键作用。因此,许多人类纤毛病是由扰乱纤毛门功能的突变引起的。