摘要：SummaryMotile 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 gene4833427G06Rik(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.Hoatzknockout (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 theHoatzKO 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.Graphical AbstractDisplay OmittedHighlights•Knockout ofHoatzcauses hydrocephalus and oligo-astheno-terato-zoospermia•Motile cilia are variably affected by theHoatzmutation depending on tissue type•Candidate HOATZ-interacting proteins including ENO4 are identified•Knockout ofHoatzalters the western blot profile of ENO4Rodent Genetics; Rodent Reproduction; Developmental Genetics
