Oral-Facial-Digital type I (OFD1) is a rare inherited form of renal cystic disease associated with ciliary dysfunction. This disorder is due to mutations in the OFD1 gene that encodes a protein localized to centrosomes and basal bodies in different cell types. Immunofluorescence analysis demonstrated that OFD1 displays a dynamic distribution during cell cycle. High-content microscopy analysis of Ofd1-depleted fibroblasts revealed impaired cell cycle progression. Immunofluorescence analysis and cell proliferation assays also indicated the presence of a variety of defects such as centrosome accumulation, nuclear abnormalities and aneuploidy. In addition, Ofd1-depleted cells displayed an abnormal microtubule network that may underlie these defects. All together our results suggest that OFD1 contributes to the function of the microtubule organizing center (MTOC) in the cell, controlling cell cycle progression both in vitro and in vivo.

中文翻译：

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中心体/基础体蛋白OFD1是微管组织和细胞周期进程所必需的。

I型口面部数字型（OFD1）是与睫状功能障碍相关的肾囊性疾病的罕见遗传形式。这种疾病是由于OFD1基因的突变所致，该基因编码位于不同细胞类型中中心体和基底体的蛋白质。免疫荧光分析表明，OFD1在细胞周期中显示动态分布。Ofd1耗尽的成纤维细胞的高含量显微镜分析显示受损的细胞周期进程。免疫荧光分析和细胞增殖测定还表明存在多种缺陷，例如中心体积累，核异常和非整倍性。此外，Ofd1耗尽的细胞显示出异常的微管网络，可能是这些缺陷的基础。