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C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle
JournalArticle (Originalarbeit in einer wissenschaftlichen Zeitschrift)
 
ID 3031815
Author(s) Floriot, Sandrine; Vesque, Christine; Rodriguez, Sabrina; Bourgain-Guglielmetti, Florence; Karaiskou, Anthi; Gautier, Mathieu; Duchesne, Amandine; Barbey, Sarah; Fritz, Sébastien; 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, André; Schneider-Maunoury, Sylvie; Boichard, Didier; Sobczak-Thépot, Joelle; Schibler, Laurent
Author(s) at UniBasel Nigg, Erich
Year 2015
Title C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle
Journal Nature communications
Volume 6
Pages / Article-Number 6894
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.

Publisher Nature Publishing Group
ISSN/ISBN 2041-1723
edoc-URL http://edoc.unibas.ch/dok/A6381797
Full Text on edoc No
Digital Object Identifier DOI 10.1038/ncomms7894
PubMed ID http://www.ncbi.nlm.nih.gov/pubmed/25902731
ISI-Number WOS:000353704100002
Document type (ISI) Journal Article
 
   

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