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Primary Ciliary Dyskinesia in Mice Lacking the Novel Ciliary Protein Pcdp1

机译：缺乏新型睫状蛋白Pcdp1的小鼠原发性睫状运动障碍。

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Primary ciliary dyskinesia (PCD) results from ciliary dysfunction and is commonly characterized by sinusitis, male infertility, hydrocephalus, and situs inversus. Mice homozygous for the nm1054 mutation develop phenotypes associated with PCD. On certain genetic backgrounds, homozygous mutants die perinatally from severe hydrocephalus, while mice on other backgrounds have an accumulation of mucus in the sinus cavity and male infertility. Mutant sperm lack mature flagella, while respiratory epithelial cilia are present but beat at a slower frequency than wild-type cilia. Transgenic rescue demonstrates that the PCD in nm1054 mutants results from the loss of a single gene encoding the novel primary ciliary dyskinesia protein 1 (Pcdp1). The Pcdp1 gene is expressed in spermatogenic cells and motile ciliated epithelial cells. Immunohistochemistry shows that Pcdp1 protein localizes to sperm flagella and the cilia of respiratory epithelial cells and brain ependymal cells in both mice and humans. This study demonstrates that Pcdp1 plays an important role in ciliary and flagellar biogenesis and motility, making the nm1054 mutant a useful model for studying the molecular genetics and pathogenesis of PCD.
机译：原发性睫状运动障碍（PCD）是由睫状功能障碍引起的，通常以鼻窦炎，男性不育，脑积水和逆位为特征。 nm1054 突变的纯合小鼠表现出与PCD相关的表型。在某些遗传背景下，纯合突变体会因严重的脑积水而在围产期死亡，而其他背景下的小鼠则在窦腔内积聚了粘液，并导致男性不育。突变的精子缺乏成熟的鞭毛，而存在呼吸道上皮纤毛，但搏动的频率比野生型纤毛慢。转基因抢救表明， nm1054 突变体中的PCD是由编码新的初级睫状运动障碍蛋白1（Pcdp1）的单个基因的丢失导致的。 Pcdp1 基因在生精细胞和活动性纤毛上皮细胞中表达。免疫组织化学显示，Pcdp1蛋白在小鼠和人类中均定位于精子鞭毛和呼吸道上皮细胞和脑室管膜细胞的纤毛。这项研究表明，Pcdp1在睫毛和鞭毛的生物发生和运动中起着重要作用，使 nm1054 突变体成为研究PCD分子遗传学和发病机理的有用模型。

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