Ontology highlight
ABSTRACT:
SUBMITTER: Mitchison HM
PROVIDER: S-EPMC3315610 | biostudies-literature | 2012 Mar
REPOSITORIES: biostudies-literature
Mitchison Hannah M HM Schmidts Miriam M Loges Niki T NT Freshour Judy J Dritsoula Athina A Hirst Rob A RA O'Callaghan Christopher C Blau Hannah H Al Dabbagh Maha M Olbrich Heike H Beales Philip L PL Yagi Toshiki T Mussaffi Huda H Chung Eddie M K EM Omran Heymut H Mitchell David R DR
Nature genetics 20120304 4
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 assembly of inner and outer dynein arms. Knockdown of dnaaf3 in zebrafish likewise ...[more]