We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.
- Authors
Wirschell, Maureen; Olbrich, Heike; Werner, Claudius; Tritschler, Douglas; Bower, Raqual; Sale, Winfield S; Loges, Niki T; Pennekamp, Petra; Lindberg, Sven; Stenram, Unne; Carlén, Birgitta; Horak, Elisabeth; Köhler, Gabriele; Nürnberg, Peter; Nürnberg, Gudrun; Porter, Mary E; Omran, Heymut
- Abstract
Primary ciliary dyskinesia (PCD) is characterized by dysfunction of respiratory cilia and sperm flagella and random determination of visceral asymmetry. Here, we identify the DRC1 subunit of the nexin-dynein regulatory complex (N-DRC), an axonemal structure critical for the regulation of dynein motors, and show that mutations in the gene encoding DRC1, CCDC164, are involved in PCD pathogenesis. Loss-of-function mutations disrupting DRC1 result in severe defects in assembly of the N-DRC structure and defective ciliary movement in Chlamydomonas reinhardtii and humans. Our results highlight a role for N-DRC integrity in regulating ciliary beating and provide the first direct evidence that mutations in DRC genes cause human disease.
- Subjects
MOVEMENT disorders; CILIARY body; FLAGELLA (Microbiology); DYNEIN; ALGAE
- Publication
Nature Genetics, 2013, Vol 45, Issue 3, p262
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng.2533