The centrosome is essential for reproductive biology. The centrosome is a subcellular organelle composed of two centrioles embedded in pericentriolar material that is present in most eukaryotic cells and plays a critical role in various cellular processes, including cell division, motility, and cilia formation ( 4). Collectively, our findings identified nonfunctional CEP78 as an indispensable factor contributing to male infertility and revealed a role for this gene in regulating retinal and outer hair cell function in mice. Cep78 knockout mice also exhibited impairments in retina and outer hair cells of the cochlea. Mechanistically, CEP78 might regulate USP16 expression, which further stabilizes Tektin levels via the ubiquitination pathway. The infertility of the patients and knockout mice could not be rescued by an intracytoplasmic sperm injection treatment. We further created Cep78 knockout mice, which showed an extremely low sperm count, completely aberrant sperm morphology, and approximately null sperm motility. Here, we identified a pathogenic splicing mutation in CEP78 in male infertile patients with severely reduced sperm number and motility, and the typical multiple morphological abnormalities of the sperm flagella phenotype. However, the role of centrosomal proteins in male infertility remains poorly defined. Centrosomal protein dysfunction might cause ciliopathies.
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