Mutation of FOP/FGFR1OP in mice recapitulates human short rib-polydactyly ciliopathy - CNRS - Centre national de la recherche scientifique Accéder directement au contenu
Article Dans Une Revue Human Molecular Genetics Année : 2018

Mutation of FOP/FGFR1OP in mice recapitulates human short rib-polydactyly ciliopathy

Résumé

Skeletal dysplasias are a clinically and genetically heterogeneous group of bone and cartilage disorders. A total of 436 skeletal dysplasias are listed in the 2015 revised version of the nosology and classification of genetic skeletal disorders, of which nearly 20% are still genetically and molecularly uncharacterized. We report the clinical and molecular characterization of a lethal skeletal dysplasia of the short-rib group caused by mutation of the mouse Fop gene. Fop encodes a centrosomal and centriolar satellite (CS) protein. We show that Fop mutation perturbs ciliogenesis in vivo and that this leads to the alteration of the Hedgehog signaling pathway. Fop mutation reduces CSs movements and affects pericentriolar material composition, which probably participates to the ciliogenesis defect. This study highlights the role of a centrosome and CSs protein producing phenotypes in mice that recapitulate a short rib-polydactyly syndrome when mutated.

Dates et versions

hal-02143648 , version 1 (29-05-2019)

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Citer

Olivier Cabaud, Regine Roubin, Audrey Comte, Virginie Bascunana, Arnauld Serge, et al.. Mutation of FOP/FGFR1OP in mice recapitulates human short rib-polydactyly ciliopathy. Human Molecular Genetics, 2018, 27 (19), pp.3377-3391. ⟨10.1093/hmg/ddy246⟩. ⟨hal-02143648⟩

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