Ccdc157-KO Mouse

CCDC157, a chromosomal protein, is involved in multiple biological processes. It plays a crucial role in sperm differentiation, and is also associated with protein transport and secretion as it is an important factor for the fusion of transport carriers to Golgi membranes [3]. In addition, it has been linked to the regulation of genes involved in cell migration/motility and Golgi components [1]. Genetic models, such as mouse models, have been valuable in studying its functions.

In a mouse model, loss of Ccdc157 led to male sterility with oligoasthenoteratozoospermia (OAT)-like phenotypes. Electron microscopy revealed misstructured acrosome and abnormal head-tail coupling apparatus in the sperm of Ccdc157-null mice. Comparative transcriptome analysis showed that the Ccdc157 mutation alters the expressions of genes involved in cell migration/motility and Golgi components. Abnormal Golgi apparatus and decreased expressions of genes involved in acrosome formation and lipid metabolism were detected in Ccdc157-deprived mouse germ cells [1]. In Drosophila, the homolog of CCDC157, Pif1A, is essential for spermatide individualization and involved in the regulation of lipid metabolism genes [2].

In conclusion, CCDC157 is essential for sperm maturation as demonstrated through mouse and Drosophila models. The gene knockout studies in mice have revealed its significance in male fertility, specifically in relation to OAT. These findings suggest CCDC157 may serve as a diagnostic marker for OAT and provide insights into the mechanisms underlying male infertility [1].

References:

1. Zheng, Huimei, Gong, Chenjia, Li, Jingping, Yang, Xiaohang, Xi, Yongmei. . CCDC157 is essential for sperm differentiation and shows oligoasthenoteratozoospermia-related mutations in men. In Journal of cellular and molecular medicine, 28, e18215. doi:10.1111/jcmm.18215. https://pubmed.ncbi.nlm.nih.gov/38509755/

2. Yuan, Xin, Zheng, Huimei, Su, Yang, Xi, Yongmei, Yang, Xiaohang. 2019. Drosophila Pif1A is essential for spermatogenesis and is the homolog of human CCDC157, a gene associated with idiopathic NOA. In Cell death & disease, 10, 125. doi:10.1038/s41419-019-1398-3. https://pubmed.ncbi.nlm.nih.gov/30741974/

3. Bassaganyas, Laia, Popa, Stephanie J, Horlbeck, Max, Moreau, Kevin, Villeneuve, Julien. 2019. New factors for protein transport identified by a genome-wide CRISPRi screen in mammalian cells. In The Journal of cell biology, 218, 3861-3879. doi:10.1083/jcb.201902028. https://pubmed.ncbi.nlm.nih.gov/31488582/