Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus

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Cilia are small, specialized projections extending from a cell's surface that play key sensory and sometimes motility functions, such as generating fluid flow for clearing airways or sperm propulsion necessary for male fertility. Ciliary motility is defective in the inherited disease, Primary Ciliary Dyskinesia (PCD). Although the basic cilium blueprint has been elaborated on during evolution, many of the core genes involved in building or maintaining functional cilia have been conserved. We have used the comparatively simple fruit fly, which has motile cilia on only a handful of touch-sensitive sensory cells, to identify genes involved in ciliary motility and which are therefore candidate genes for causing PCD. We show here that when one such gene (CG31320/HEATR2) is disrupted in either flies or in human PCD patients, cilia form but they cannot move. We show this protein stays in the cytoplasm, where it is acts like a flexible scaffold stabilizing and facilitating interactions during the assembly of large multi-component ciliary motor complexes needed to power cilia movement.

Vyšlo v časopise: Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus. PLoS Genet 10(9): e32767. doi:10.1371/journal.pgen.1004577
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1004577

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