CINBIO, Biomedical Research Centre, University of Vigo, 36310 Vigo, Spain.
Galicia Sur Health Research Institute (IIS-GS), 36310 Vigo, Spain.
Biomolecules. 2022 Jun 17;12(6):847. doi: 10.3390/biom12060847.
Primary cilia are non-motile organelles associated with the cell cycle, which can be found in most vertebrate cell types. Cilia formation occurs through a process called ciliogenesis, which involves several mechanisms including planar cell polarity (PCP) and the Hedgehog (Hh) signaling pathway. Some gene complexes, such as BBSome or CPLANE (ciliogenesis and planar polarity effector), have been linked to ciliogenesis. CPLANE complex is composed of , and , which bind to and for cilia formation. Defects in these genes have been linked to a malfunction of intraflagellar transport and defects in the planar cell polarity, as well as defective activation of the Hedgehog signalling pathway. These faults lead to defective cilium formation, resulting in ciliopathies, including orofacial-digital syndrome (OFDS) and Bardet-Biedl syndrome (BBS). Considering the close relationship, between the CPLANE complex and cilium formation, it can be expected that defects in the genes that encode subunits of the CPLANE complex may be related to other ciliopathies.
原发性纤毛是与细胞周期相关的非运动细胞器，可在大多数脊椎动物细胞类型中找到。纤毛的形成是通过一个称为纤毛发生的过程来实现的，该过程涉及几个机制，包括平面细胞极性（PCP）和 Hedgehog（Hh）信号通路。一些基因复合物，如 BBSome 或 CPLANE（纤毛发生和平面极性效应物），与纤毛发生有关。CPLANE 复合物由 、 和 组成，它们与 和 结合以形成纤毛。这些基因的缺陷与内鞭毛运输的功能障碍和平面细胞极性的缺陷以及 Hedgehog 信号通路的缺陷激活有关。这些缺陷导致纤毛形成缺陷，导致纤毛病，包括口面指（趾）综合征（OFDS）和 Bardet-Biedl 综合征（BBS）。考虑到 CPLANE 复合物与纤毛形成之间的密切关系，可以预期编码 CPLANE 复合物亚基的基因缺陷可能与其他纤毛病有关。
