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

Sandrine Floriot 1 Christine Vesque 2, 3 Sabrina Rodriguez 1, 4 Florence Bourgain-Guglielmetti 2, 5 Anthi Karaiskou 2 Mathieu Gautier 1, 6 Amandine Duchesne 1 Sarah Barbey 7 Sebastien Fritz 1, 8 Alexandre Vasilescu 9 Maud Bertaud 1 Mohammed Moudjou 10 Sophie Halliez 10 Valérie Cormier-Daire 11 Joyce E L Hokayem 11 Erich A Nigg 12 Luc Manciaux 13 Raphaël Guatteo 14, 15 Nora Cesbron 15 Geraldine Toutirais 16 Andre Eggen 1 Sylvie Schneider-Maunoury 2, 3 Didier Boichard 1 Joelle Sobczak-Thépot 2, 5, * Laurent Schibler 1, 8 
Abstract : 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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Sandrine Floriot, Christine Vesque, Sabrina Rodriguez, Florence Bourgain-Guglielmetti, Anthi Karaiskou, et al.. C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle. Nature Communications, Nature Publishing Group, 2015, 6, pp.1-9. ⟨10.1038/ncomms7894⟩. ⟨hal-01194104⟩



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