CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.

ABSTRACT: A diverse family of cytoskeletal dynein motors powers various cellular transport systems, including axonemal dyneins generating the force for ciliary and flagellar beating essential to movement of extracellular fluids and of cells through fluid. Multisubunit outer dynein arm (ODA) motor complexes, produced and preassembled in the cytosol, are transported to the ciliary or flagellar compartment and anchored into the axonemal microtubular scaffold via the ODA docking complex (ODA-DC) system. In humans, defects in ODA assembly are the major cause of primary ciliary dyskinesia (PCD), an inherited disorder of ciliary and flagellar dysmotility characterized by chronic upper and lower respiratory infections and defects in laterality. Here, by combined high-throughput mapping and sequencing, we id

SUBMITTER: Hjeij R 

PROVIDER: S-EPMC4157146 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature