RRC ID 3836
著者 Omran H, Kobayashi D, Olbrich H, Tsukahara T, Loges NT, Hagiwara H, Zhang Q, Leblond G, O'Toole E, Hara C, Mizuno H, Kawano H, Fliegauf M, Yagi T, Koshida S, Miyawaki A, Zentgraf H, Seithe H, Reinhardt R, Watanabe Y, Kamiya R, Mitchell DR, Takeda H.
タイトル Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.
ジャーナル Nature
Abstract Cilia and flagella are highly conserved organelles that have diverse roles in cell motility and sensing extracellular signals. Motility defects in cilia and flagella often result in primary ciliary dyskinesia. However, the mechanisms underlying cilia formation and function, and in particular the cytoplasmic assembly of dyneins that power ciliary motility, are only poorly understood. Here we report a new gene, kintoun (ktu), involved in this cytoplasmic process. This gene was first identified in a medaka mutant, and found to be mutated in primary ciliary dyskinesia patients from two affected families as well as in the pf13 mutant of Chlamydomonas. In the absence of Ktu/PF13, both outer and inner dynein arms are missing or defective in the axoneme, leading to a loss of motility. Biochemical and immunohistochemical studies show that Ktu/PF13 is one of the long-sought proteins involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transport loads them for the ciliary compartment.
巻・号 456(7222)
ページ 611-6
公開日 2008-12-4
DOI 10.1038/nature07471
PII nature07471
PMID 19052621
PMC PMC3279746
MeSH Animals Axoneme / chemistry Axoneme / genetics Axoneme / metabolism* Axoneme / pathology Chlamydomonas / genetics Chlamydomonas / metabolism Cilia / chemistry Cilia / genetics Cilia / metabolism* Cilia / pathology Cloning, Molecular Dyneins / metabolism* Epithelial Cells / cytology Fish Proteins / genetics Fish Proteins / metabolism* Genes, Recessive / genetics HSP70 Heat-Shock Proteins / metabolism Humans Kartagener Syndrome / genetics Kartagener Syndrome / pathology Male Mice Molecular Sequence Data Mutation / genetics Oryzias* / embryology Oryzias* / genetics Oryzias* / metabolism Protein Binding Proteins / genetics Proteins / metabolism* Sequence Homology, Amino Acid Sperm Motility Testis / cytology
IF 42.779
引用数 221
WOS 分野 CELL BIOLOGY
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