Cep112-KO Mouse

CEP112, known as centrosomal protein 112, is essential in multiple biological processes. It is involved in the post-transcriptional regulation of gene expression, especially during spermiogenesis. It also has potential roles in host-pathogen interactions, and is associated with sperm morphological abnormalities and oncogenesis [1,2].

Mutations in CEP112 are found in oligoasthenoteratospermic patients, and Cep112-deficient male mice recapitulate key phenotypes of human asthenoteratozoospermia. CEP112 localizes to the neck and atypical centrioles of mature sperm, forms RNA granules during spermiogenesis, and enriches target mRNAs. It orchestrates the translation of these target mRNAs through liquid-liquid phase separation. In addition, loss-of-function mutations in CEP112 are associated with the human acephalic spermatozoa phenotype [1,2].

In conclusion, CEP112 plays a crucial role in regulating the post-transcriptional expression of fertility-related genes during spermiogenesis. The study of CEP112-deficient mouse models has provided insights into male infertility, highlighting the importance of CEP112 in sperm development and suggesting it as a potential therapeutic target for male infertility treatment [1,2].

References:

1. Zhang, Xueguang, Huang, Gelin, Jiang, Ting, Tan, Yueqiu, Xu, Wenming. 2024. CEP112 coordinates translational regulation of essential fertility genes during spermiogenesis through phase separation in humans and mice. In Nature communications, 15, 8465. doi:10.1038/s41467-024-52705-8. https://pubmed.ncbi.nlm.nih.gov/39349455/

2. Sha, Yanwei, Wang, Xiong, Yuan, JinTing, Xu, Xiaohui, Wei, Xiaoli. 2019. Loss-of-function mutations in centrosomal protein 112 is associated with human acephalic spermatozoa phenotype. In Clinical genetics, 97, 321-328. doi:10.1111/cge.13662. https://pubmed.ncbi.nlm.nih.gov/31654588/