title: Structural basis of the Inv compartment and ciliary abnormalities in Inv/nphp2 mutant mice.
abstract: The primary cilium is a hair like structure protruding from most mammalian cells. The basic design of the primary cilium consists of a nine microtubule doublet structure (the axoneme). The Inv compartment, a distinct proximal segment of the ciliary body, is defined as the region in which the Inv protein is localized. Inv gene is a responsible gene for human nephronophthisis type2 (NPHP2). Here, we show that renal cilia have a short proximal microtubule doublet region and a long distal microtubule singlet region. The length of the Inv compartment was similar to that of the microtubule doublet region, suggesting a possibility that the doublet region is the structural basis of the Inv compartment. Respiratory cilia of inv mouse mutants had ciliary rootlet malformation and showed reduced ciliary beating frequency and ciliary beating angle, which may explain recurrent bronchitis in NPHP2 patients. In multiciliated tracheal cells, most Inv proteins were retained in the basal body and did not accumulate in the Inv compartment. These results suggest that the machinery to transport and retain Inv in cilia is different between renal and tracheal cilia and that Inv may function in the basal body of tracheal cells.
authors.affiliation: Division of Anatomy and Developmental Biology, Department of Anatomy, Graduate School of Medicine, Kyoto Prefectural University of Medicine, Kyoto, 602-8566, Japan.
authors.forename: Takuma
authors.initials: T
authors.lastname: Tsuji
authors.affiliation: Division of Anatomy and Developmental Biology, Department of Anatomy, Graduate School of Medicine, Kyoto Prefectural University of Medicine, Kyoto, 602-8566, Japan.
authors.forename: Kazuhiko
authors.initials: K
authors.lastname: Matsuo
authors.affiliation: Division of Molecular Cell Physiology, Department of Physiology, Graduate School of Medicine, Kyoto Prefectural University of Medicine, Kyoto, 602-8566, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Nakahari
authors.affiliation: Division of Molecular Cell Physiology, Department of Physiology, Graduate School of Medicine, Kyoto Prefectural University of Medicine, Kyoto, 602-8566, Japan.
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Marunaka
authors.affiliation: Division of Anatomy and Developmental Biology, Department of Anatomy, Graduate School of Medicine, Kyoto Prefectural University of Medicine, Kyoto, 602-8566, Japan.
authors.forename: Takahiko
authors.initials: T
authors.lastname: Yokoyama
mesh_terms: D000818:Animals; D002465:Cell Movement; D002923:Cilia / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D007668:Kidney / Q000378:metabolism / Q000473:pathology*; D051379:Mice; D018345:Mice, Knockout; D008854:Microscopy, Electron; D008856:Microscopy, Fluorescence; D008870:Microtubules / Q000378:metabolism; D009154:Mutation / Q000235:genetics*; D013347:Subcellular Fractions; D014132:Trachea / Q000378:metabolism / Q000473:pathology*; D014157:Transcription Factors / Q000502:physiology*
chemical_list: C491947:Invs protein, mouse; D014157:Transcription Factors
keywords: Inv; Inv compartment; NPHP2; axoneme; primary cilia