The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans
(2013) In Nature Genetics 45(3). p.262-268- 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.
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https://lup.lub.lu.se/record/3670182
- author
- organization
- publishing date
- 2013
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Nature Genetics
- volume
- 45
- issue
- 3
- pages
- 262 - 268
- publisher
- Nature Publishing Group
- external identifiers
-
- wos:000315664800009
- scopus:84874658994
- pmid:23354437
- ISSN
- 1546-1718
- DOI
- 10.1038/ng.2533
- language
- English
- LU publication?
- yes
- additional info
- The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Pathology, (Lund) (013030000), Otorhinolaryngology (Lund) (013044000)
- id
- 10f0d528-7883-4463-8078-ffac08d8a0d6 (old id 3670182)
- date added to LUP
- 2016-04-01 14:48:17
- date last changed
- 2022-04-14 19:40:18
@article{10f0d528-7883-4463-8078-ffac08d8a0d6, 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.}}, author = {{Wirschell, Maureen and Olbrich, Heike and Werner, Claudius and Tritschler, Douglas and Bower, Raqual and Sale, Winfield S. and Loges, Niki T. and Pennekamp, Petra and Lindberg, Sven and Stenram, Unne and Carlén, Birgitta and Horak, Elisabeth and Koehler, Gabriele and Nuernberg, Peter and Nuernberg, Gudrun and Porter, Mary E. and Omran, Heymut}}, issn = {{1546-1718}}, language = {{eng}}, number = {{3}}, pages = {{262--268}}, publisher = {{Nature Publishing Group}}, series = {{Nature Genetics}}, title = {{The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans}}, url = {{http://dx.doi.org/10.1038/ng.2533}}, doi = {{10.1038/ng.2533}}, volume = {{45}}, year = {{2013}}, }