C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle - Archive ouverte HAL Access content directly
Journal Articles Nature Communications Year : 2015

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

Sarah Barbey
Geraldine Toutirais
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  • PersonId : 1267455

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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hal-01194104 , version 1 (06-04-2016)

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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, 2015, 6, pp.1-9. ⟨10.1038/ncomms7894⟩. ⟨hal-01194104⟩
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