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CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs
Open accessAbstract
Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by recurrent infections of the upper and lower respiratory tract, reduced fertility in males and situs inversus in about 50% of affected individuals (Kartagener syndrome). It is caused by motility defects in the respiratory cilia that are responsible for airway clearance, the flagella that propel sperm cells and the nodal monocilia that determine left-right asymmetry. Recessive mutations that cause PCD have been identified in genes encoding components of the outer dynein arms, radial spokes and cytoplasmic pre-assembly factors of axonemal dyneins, but these mutations account for only about 50% of cases of PCD. We exploited the unique properties of dog populations to positionally clone a new PCD gene, CCDC39. We found that loss-of-function mutations in the human ortholog underlie a substantial fraction of PCD cases with axonemal disorganization and abnormal ciliary beating. Functional analyses indicated that CCDC39 localizes to ciliary axonemes and is essential for assembly of inner dynein arms and the dynein regulatory complex.
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Cited by
European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia
Lucas, J. S., Barbato, A., Collins, S. A., Goutaki, M., Behan, L., Caudri, D., Dell, S., Eber, E., Escudier, E., Hirst, R. A., et al. (2017) · European Respiratory Journal · doi:10.1183/13993003.01090-2016 · Cited by 698
Self-citationPierpont, M. E., Brueckner, M., Chung, W. K., Garg, V., Lacro, R. V., McGuire, A. L., Mital, S., Priest, J. R., Pu, W. T., Roberts, A., et al. (2018) · Circulation · doi:10.1161/cir.0000000000000606 · Cited by 654
Ben Khelifa, M., Coutton, C., Zouari, R., Karaouzène, T., Rendu, J., Bidart, M., Yassine, S., Pierre, V., Delaroche, J., Hennebicq, S., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.11.017 · Cited by 474
Self-citationWallmeier, J., Nielsen, K. G., Kuehni, C. E., Lucas, J. S., Leigh, M. W., Zariwala, M. A., & Omran, H. (2020) · Nature Reviews Disease Primers · doi:10.1038/s41572-020-0209-6 · Cited by 403
Self-citationTeratozoospermia: spotlight on the main genetic actors in the human
Coutton, C., Escoffier, J., Martinez, G., Arnoult, C., & Ray, P. F. (2015) · Human Reproduction Update · doi:10.1093/humupd/dmv020 · Cited by 352
Metadata
- Authors
- Merveille, A.-C., Davis, E. E., Becker-Heck, A., Legendre, M., Amirav, I., Bataille, G., Belmont, J., Beydon, N., Billen, F., Clément, A., Clercx, C., Coste, A., Crosbie, R., de Blic, J., Deleuze, S., Duquesnoy, P., Escalier, D., Escudier, E., Fliegauf, M., Horvath, J., Hill, K., Jorissen, M., Just, J., Kispert, A., Lathrop, M., Loges, N. T., Marthin, J. K., Momozawa, Y., Montantin, G., Nielsen, K. G., Olbrich, H., Papon, J.-F., Rayet, I., Roger, G., Schmidts, M., Tenreiro, H., Towbin, J. A., Zelenika, D., Zentgraf, H., Georges, M., Lequarré, A.-S., Katsanis, N., Omran, H., & Amselem, S.
- Venue
- Nature Genetics
- Published
- 2010-12-05
- Volume
- 43
- Issue
- 1
- Pages
- 72-78
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2028183762
- Cited by
- 350
- References
- 0
- FWCI
- 17.71
- Type
- journal article
- Language
- en
- Open access
- green
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- The paper
- Merveille, A.-C., Davis, E. E., Becker-Heck, A., Legendre, M., Amirav, I., Bataille, G., Belmont, J., Beydon, N., Billen, F., Clément, A., Clercx, C., Coste, A., Crosbie, R., de Blic, J., Deleuze, S., Duquesnoy, P., Escalier, D., Escudier, E., Fliegauf, M., . . . Amselem, S. (2011). CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nature Genetics. https://doi.org/10.1038/ng.726
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
