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

Floriot, Sandrine and Vesque, Christine and Rodriguez, Sabrina and Bourgain-Guglielmetti, Florence and Karaiskou, Anthi and Gautier, Mathieu and Duchesne, Amandine and Barbey, Sarah and Fritz, Sébastien and Vasilescu, Alexandre and Bertaud, Maud and Moudjou, Mohammed and Halliez, Sophie and Cormier-Daire, Valérie and E. L. Hokayem, Joyce and Nigg, Erich A. and Manciaux, Luc and Guatteo, Raphaël and Cesbron, Nora and Toutirais, Geraldine and Eggen, André and Schneider-Maunoury, Sylvie and Boichard, Didier and Sobczak-Thépot, Joelle and Schibler, Laurent. (2015) C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle. Nature communications, Vol. 6 , Article Nr. 6894.

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Official URL: http://edoc.unibas.ch/dok/A6381797

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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.
Faculties and Departments:05 Faculty of Science > Departement Biozentrum > Former Organization Units Biozentrum > Cell Biology (Nigg)
UniBasel Contributors:Nigg, Erich A.
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Nature Publishing Group
ISSN:2041-1723
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:05 Jun 2015 08:53
Deposited On:05 Jun 2015 08:53

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