[HTML][HTML] CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination

M Marjanović, C Sánchez-Huertas, B Terré… - Nature …, 2015 - nature.com
M Marjanović, C Sánchez-Huertas, B Terré, R Gómez, JF Scheel, S Pacheco, PA Knobel…
Nature communications, 2015nature.com
CEP63 is a centrosomal protein that facilitates centriole duplication and is regulated by the
DNA damage response. Mutations in CEP63 cause Seckel syndrome, a human disease
characterized by microcephaly and dwarfism. Here we demonstrate that Cep63-deficient
mice recapitulate Seckel syndrome pathology. The attrition of neural progenitor cells
involves p53-dependent cell death, and brain size is rescued by the deletion of p53. Cell
death is not the result of an aberrant DNA damage response but is triggered by centrosome …
Abstract
CEP63 is a centrosomal protein that facilitates centriole duplication and is regulated by the DNA damage response. Mutations in CEP63 cause Seckel syndrome, a human disease characterized by microcephaly and dwarfism. Here we demonstrate that Cep63-deficient mice recapitulate Seckel syndrome pathology. The attrition of neural progenitor cells involves p53-dependent cell death, and brain size is rescued by the deletion of p53. Cell death is not the result of an aberrant DNA damage response but is triggered by centrosome-based mitotic errors. In addition, Cep63 loss severely impairs meiotic recombination, leading to profound male infertility. Cep63-deficient spermatocytes display numerical and structural centrosome aberrations, chromosome entanglements and defective telomere clustering, suggesting that a reduction in centrosome-mediated chromosome movements underlies recombination failure. Our results provide novel insight into the molecular pathology of microcephaly and establish a role for the centrosome in meiotic recombination.
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