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Nature Research, Nature Communications, 1(6), 2015

DOI: 10.1038/ncomms7894

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

Journal article published in 2015 by Sandrine Floriot, Christine Vesque, Sabrina Rodriguez, Florence Bourgain-Guglielmetti, Anthi Karaiskou, Mathieu Gautier, Amandine Duchesne ORCID, Sarah Barbey, Sebastien Fritz, Alexandre Vasilescu, Maud Bertaud, Mohammed Moudjou, Sophie Halliez, Valérie Cormier-Daire ORCID, Joyce E. L. Hokayem and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

AbstractCaprine-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.