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C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle

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Floriot, Sandrine | Vesque, Christine | Rodriguez, Sabrina | Bourgain-Guglielmetti, Florence | Karaiskou, Anthi | Gautier, Mathieu | Duchesne, Amandine | Barbey, Sarah | Fritz, Sebastien | Vasilescu, Alexandre | Bertaud, Maud | Moudjou, Mohammed | Halliez, Sophie | Cormier-Daire, Valérie | E L Hokayem, Joyce | Nigg, Erich A | Manciaux, Luc | Guatteo, Raphaël | Cesbron, Nora | Toutirais, Geraldine | Eggen, Andre | Schneider-Maunoury, Sylvie | Boichard, Didier | Sobczak-Thépot, Joelle | Schibler, Laurent

Edité par CCSD ; Nature Publishing Group -

Caprine-like Generalized Hypoplasia Syndrome (SHGC) is an autosomal-recessive disorder in Montbéliarde cattle. Affected animals present a wide range of clinical features that include the following: delayed development with low birth weight, hind limb muscular hypoplasia, caprine-like thin head and partial coat depigmentation. Here we show that SHGC is caused by a truncating mutation in the CEP250 gene that encodes the centrosomal protein C-Nap1. This mutation results in centrosome splitting, which neither affects centriole ultrastructure and duplication in dividing cells nor centriole function in cilium assembly and mitotic spindle organization. Loss of C-Nap1-mediated centriole cohesion leads to an altered cell migration phenotype. This discovery extends the range of loci that constitute the spectrum of autosomal primary recessive microcephaly (MCPH) and Seckel-like syndromes.

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