Reference : CCDC39 is required for assembly of inner dynein arms and the dynein regulatory comple...
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/2268/101930
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
English
Merveille, Anne-Christine mailto [Université de Liège - ULg > Département clinique des animaux de compagnie et des équidés > Pathologie médicale des petits animaux]
Davis, Erica E [> > > >]
Becker-Heck, Anita [> > > >]
Legendre, Marie [> > > >]
Amirav, Israel [> > > >]
Bataille, Geraldine [> > > >]
Belmont, John [> > > >]
Beydon, Nicole [> > > >]
Billen, Frédéric mailto [Université de Liège - ULg > Département clinique des animaux de compagnie et des équidés > Pathologie médicale des petits animaux]
Clement, Annick [> > > >]
Clercx, Cécile mailto [Université de Liège - ULg > Département clinique des animaux de compagnie et des équidés > Pathologie médicale des petits animaux]
Coste, Andre [> > > >]
Crosbie, Rachelle [> > > >]
de Blic, Jacques [> > > >]
Deleuze, Stefan mailto [> > > >]
Duquesnoy, Philippe [> > > >]
Escalier, Denise [> > > >]
Escudier, Estelle [> > > >]
Fliegauf, Manfred [> > > >]
Horvath, Judith [> > > >]
Hill, Kent [> > > >]
Jorissen, Mark [> > > >]
Just, Jocelyne [> > > >]
Kispert, Andreas [> > > >]
Lathrop, Mark [> > > >]
Loges, Niki Tomas [> > > >]
Marthin, June K [> > > >]
Momozawa, Yukihide [> > > >]
Montantin, Guy [> > > >]
Nielsen, Kim G [> > > >]
Olbrich, Heike [> > > >]
Papon, Jean*-Francois [> > > >]
Rayet, Isabelle [> > > >]
Roger, Gilles [> > > >]
Schmidts, Miriam [> > > >]
Tenreiro, Henrique [> > > >]
Towbin, Jeffrey A [> > > >]
Zelenika, Diana [> > > >]
Zentgraf, Hanswalter [> > > >]
Georges, Michel mailto [Université de Liège - ULg > Département clinique des animaux de compagnie et des équidés > Pathologie médicale des petits animaux]
Lequarré, Anne-Sophie mailto [> > > >]
Katsanis, Nicholas [> > > >]
Omran, Heymut [> > > >]
Amselem, Serge [> >]
2011
Nature Genetics
Nature Publishing Group
43
1
72-8
Yes (verified by ORBi)
International
1061-4036
1546-1718
New York
NY
[en] Animals ; Base Sequence ; Cells, Cultured ; Cilia/physiology ; Ciliary Motility Disorders/genetics ; Dogs ; Dyneins/genetics ; Humans ; Microscopy, Electron, Transmission ; Molecular Sequence Data ; Mutation ; Proteins/analysis/genetics/physiology
[en] 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.
Researchers ; Professionals ; Students
http://hdl.handle.net/2268/101930
10.1038/ng.726

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