Department of Genetics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
G3 (Bethesda). 2013 Jun 21;3(6):979-91. doi: 10.1534/g3.113.006338.
Cilia are microtubule based organelles that project from cells. Cilia are found on almost every cell type of the human body and numerous diseases, collectively termed ciliopathies, are associated with defects in cilia, including respiratory infections, male infertility, situs inversus, polycystic kidney disease, retinal degeneration, and Bardet-Biedl Syndrome. Here we show that Illumina-based whole-genome transcriptome analysis in the biflagellate green alga Chlamydomonas reinhardtii identifies 1850 genes up-regulated during ciliogenesis, 4392 genes down-regulated, and 4548 genes with no change in expression during ciliogenesis. We examined four genes up-regulated and not previously known to be involved with cilia (ZMYND10, NXN, GLOD4, SPATA4) by knockdown of the human orthologs in human retinal pigment epithelial cells (hTERT-RPE1) cells to ask whether they are involved in cilia-related processes that include cilia assembly, cilia length control, basal body/centriole numbers, and the distance between basal bodies/centrioles. All of the genes have cilia-related phenotypes and, surprisingly, our data show that knockdown of GLOD4 and SPATA4 also affects the cell cycle. These results demonstrate that whole-genome transcriptome analysis during ciliogenesis is a powerful tool to gain insight into the molecular mechanism by which centrosomes and cilia are assembled.
纤毛是从细胞中伸出的微管细胞器。纤毛几乎存在于人体的每一种细胞类型中,许多疾病,统称为纤毛病,与纤毛缺陷有关,包括呼吸道感染、男性不育、 situs inversus、多囊肾病、视网膜变性和 Bardet-Biedl 综合征。在这里,我们展示了基于 Illumina 的全基因组转录组分析在双鞭毛绿藻衣藻中确定了 1850 个在纤毛发生过程中上调的基因,4392 个下调的基因,以及 4548 个在纤毛发生过程中表达没有变化的基因。我们通过在人视网膜色素上皮细胞(hTERT-RPE1)中敲低人类同源基因,检查了四个上调且以前未知与纤毛有关的基因(ZMYND10、NXN、GLOD4、SPATA4),以询问它们是否参与包括纤毛组装、纤毛长度控制、基体/中心体数量和基体/中心体之间距离在内的与纤毛相关的过程。所有这些基因都具有与纤毛相关的表型,令人惊讶的是,我们的数据显示 GLOD4 和 SPATA4 的敲低也会影响细胞周期。这些结果表明,在纤毛发生过程中进行全基因组转录组分析是一种深入了解中心体和纤毛组装的分子机制的强大工具。