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

Nat Commun. 2015 Apr 23:6:6894. doi: 10.1038/ncomms7894.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cattle
  • Cattle Diseases / genetics*
  • Cell Cycle Proteins / genetics*
  • Cell Movement / genetics*
  • Centrioles / metabolism*
  • Hypopigmentation / genetics
  • Hypopigmentation / veterinary*
  • Microcephaly / genetics
  • Microcephaly / veterinary*
  • Morphogenesis / genetics*
  • Muscular Diseases / genetics
  • Muscular Diseases / veterinary*
  • Mutation
  • Syndrome

Substances

  • Cell Cycle Proteins

Associated data

  • SRA/SRS845153
  • SRA/SRS845154
  • SRA/SRS845156
  • SRA/SRS845157