Article
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
Nature genetics - 4 Mar 2012
Mitchison Hannah M, Schmidts Miriam, Loges Niki T, Freshour Judy, Dritsoula Athina, Hirst Rob A, O'Callaghan Christopher, Blau Hannah, Al Dabbagh Maha, Olbrich Heike, Beales Philip L, Yagi Toshiki, Mussaffi Huda, Chung Eddie M K, Omran Heymut, Mitchell David R
Abstract excerpt
Primary ciliary dyskinesia most often arises from loss of the dynein motors that power ciliary beating. Here we show that DNAAF3 (also known as PF22), a previously uncharacterized protein, is essential for the preassembly of dyneins into complexes before their transport into cilia. We identified loss-of-function mutations in the human DNAAF3 gene in individuals from families with situs inversus and defects in the...
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