Motile cilia and flagella require ATP for their formation and function. Although glycolytic enzymes are components of flagellar proteomes, how they translocate to flagella is unknown. Here we show that the expression pattern of the functionally nonannotated gene 4833427G06Rik (C11orf88), which is found only in vertebrates and is designated here as Hoatzin (Hoatz), suggests a functional association of its product with motile cilia and flagella. Hoatz knockout (KO) mice developed hydrocephalus and male infertility in an autosomal recessive manner, and the ependymal cilia frequently showed disorganized axonemes, reducing motility associated with collapsed spermatid flagella during cytodifferentiation. HOATZ was associated with certain proteins, including the flagellar glycolytic enzyme ENO4. In the testes of the Hoatz KO mice, the immature form of ENO4 accumulated in abnormal cytoplasmic puncta of developing spermatids. These data indicate that HOATZ is required for motile ciliogenesis and flagellar genesis in vertebrates by mediating the maturation of ENO4.

运动性纤毛和鞭毛需要ATP才能形成和发挥功能。尽管糖酵解酶是鞭毛蛋白质组的组成部分，但如何转运到鞭毛尚不清楚。在这里，我们显示仅在脊椎动物中发现的功能非注释基因4833427G06Rik（C11orf88）的表达模式在这里被称为Hoatzin（Hoatz），表明其产物与活动纤毛和鞭毛具有功能关联。霍茨敲除（KO）小鼠以常染色体隐性方式发展为脑积水和男性不育，并且室管膜纤毛经常显示出杂乱的轴突，从而减少了与细胞分化过程中精子鞭毛塌陷相关的运动。HOATZ与某些蛋白质相关，包括鞭毛糖酵解酶ENO4。在Hoatz KO小鼠的睾丸中，未成熟形式的ENO4积累在发育中的精子的异常细胞质点中。这些数据表明，HOATZ通过介导ENO4的成熟对于脊椎动物的运动性睫毛发生和鞭毛发生是必需的。