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- W2091137701 abstract "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." @default.
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- W2091137701 date "2015-04-23" @default.
- W2091137701 modified "2023-10-13" @default.
- W2091137701 title "C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle" @default.
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- W2091137701 doi "https://doi.org/10.1038/ncomms7894" @default.
- W2091137701 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4423223" @default.
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