Erratum: Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery
Erratum: Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery
复制标题
勘误表：勘误表：纤毛病相关的 CPLANE 蛋白直接募集鞭毛内运输机制
DOI：
10.1038/ng0816-970b
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发表时间：
2016
期刊：
影响因子：
30.8
通讯作者：
Toriyama M
中科院分区：
文献类型：
--
作者：
Toriyama M
纤毛利用微管为基础的鞭毛内运输（IFT）组织细胞间的信号。纤毛病是由纤毛结构或功能缺陷引起的一系列人类疾病。调节纤毛多蛋白复合物的组装和这些复合物运输到纤毛基部的机制在很大程度上仍然未知。结合蛋白质组学，在体内成像和蛋白质的遗传分析与平面细胞极性（反转，模糊和Wdpcp），我们确定和表征了一个新的遗传模块，我们称之为CPLANE（纤毛发生和平面极性效应），和广泛的相关蛋白质网络。CPLANE蛋白质在基体上与知之甚少的纤毛病变相关蛋白Jbts 17在物理和功能上相互作用，在那里它们起作用以招募特定的IFT-A蛋白亚群。在没有CPLANE的情况下，有缺陷的IFT-A颗粒进入轴丝，IFT-B运输受到严重干扰。因此，CPLANE基因的突变在小鼠模型中引起特异性纤毛病变表型，并且与人类患者中的纤毛病变相关。
Cilia use microtubule-based intraflagellar transport (IFT) to organize intercellular signaling. Ciliopathies are a spectrum of human diseases resulting from defects in cilia structure or function. The mechanisms regulating the assembly of ciliary multiprotein complexes and the transport of these complexes to the base of cilia remain largely unknown. Combining proteomics,in vivoimaging and genetic analysis of proteins linked to planar cell polarity (Inturned, Fuzzy and Wdpcp), we identified and characterized a new genetic module, which we term CPLANE (ciliogenesis and planar polarity effector), and an extensive associated protein network. CPLANE proteins physically and functionally interact with the poorly understood ciliopathy-associated protein Jbts17 at basal bodies, where they act to recruit a specific subset of IFT-A proteins. In the absence of CPLANE, defective IFT-A particles enter the axoneme and IFT-B trafficking is severely perturbed. Accordingly, mutation of CPLANE genes elicits specific ciliopathy phenotypes in mouse models and is associated with ciliopathies in human patients.