Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins

Article

关键词: PRIMARY CILIARY DYSKINESIA;    CHLAMYDOMONAS-REINHARDTII;    KUPFFERS VESICLE;    FLUID-FLOW;    ARM DYNEIN;    MUTATIONS;    MEDAKA;    PROTEIN;    CHAIN;    MUTANT;   

DOI  :  10.1038/nature07471

来源: SCIE

【 摘 要 】

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.

【 授权许可】

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