PuSH - Publikationsserver des Helmholtz Zentrums München: Pitchfork regulates primary cilia disassembly and left-right asymmetry.

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Kinzel, D. ; Boldt, K. ; Davis, E.E.* ; Burtscher, I. ; Trümbach, D. ; Diplas, B.* ; Attie-Bitach, T.* ; Wurst, W. ; Katsanis, N.* ; Ueffing, M. ; Lickert, H.

Pitchfork regulates primary cilia disassembly and left-right asymmetry.

Dev. Cell 19, 66-77 (2010)

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Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.

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A variety of developmental disorders have been associated with ciliary defects, yet the controls that govern cilia disassembly are largely unknown. Here we report a mouse embryonic node gene, which we named Pitchfork (Pifo). Pifo associates with ciliary targeting complexes and accumulates at the basal body during cilia disassembly. Haploinsufficiency causes a unique node cilia duplication phenotype, left-right asymmetry defects, and heart failure. This phenotype is likely relevant in humans, because we identified a heterozygous R80K PIFO mutation in a fetus with situs inversus and cystic liver and kidneys, and in patient with double-outflow right ventricle. We show that PIFO, but not R80K PIFO, is sufficient to activate Aurora A, a protooncogenic kinase that induces cilia retraction, and that Pifo/PIFO mutation causes cilia retraction, basal body liberation, and overreplication defects. Thus, the observation of a disassembly phenotype in vivo provides an entry point to understand and categorize ciliary disease.

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