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PMID:21131972

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Citation

Merveille, AC, Davis, EE, 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, NT, Marthin, JK, Momozawa, Y, Montantin, G, Nielsen, KG, Olbrich, H, Papon, JF, Rayet, I, Roger, G, Schmidts, M, Tenreiro, H, Towbin, JA, Zelenika, D, Zentgraf, H, Georges, M, Lequarré, AS, Katsanis, N, Omran, H and 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. Nat. Genet. 43:72-8

Abstract

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.

Links

PubMed Online version:10.1038/ng.726

Keywords

Animals; Base Sequence; Cells, Cultured; Cilia/physiology; Ciliary Motility Disorders/genetics; Dogs; Dyneins/genetics; Humans; Microscopy, Electron, Transmission; Molecular Sequence Data; Mutation; Proteins/analysis; Proteins/genetics; Proteins/physiology

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

CANLF:CCD39

involved_in

GO:0060287: epithelial cilium movement involved in determination of left/right asymmetry

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

CANLF:CCD39

involved_in

GO:0060285: cilium-dependent cell motility

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

DANRE:CCD39

involved_in

GO:0060287: epithelial cilium movement involved in determination of left/right asymmetry

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

DANRE:CCD39

involved_in

GO:0060285: cilium-dependent cell motility

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

DANRE:CCD39

involved_in

GO:0007368: determination of left/right symmetry

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-MRPHLNO-110606-1

P

Seeded From UniProt

complete

HUMAN:CCD39

located_in

GO:0005930: axoneme

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:CCD39

involved_in

GO:0060287: epithelial cilium movement involved in determination of left/right asymmetry

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:CCD39

involved_in

GO:0060285: cilium-dependent cell motility

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:CCD39

involved_in

GO:0070286: axonemal dynein complex assembly

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

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