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Publication : CCDC38 is required for sperm flagellum biogenesis and male fertility in mice.

First Author  Zhang R Year  2022
Journal  Development Volume  149
Issue  11 PubMed ID  35587122
Mgi Jnum  J:325559 Mgi Id  MGI:7286438
Doi  10.1242/dev.200516 Citation  Zhang R, et al. (2022) CCDC38 is required for sperm flagellum biogenesis and male fertility in mice. Development 149(11):dev200516
abstractText  The sperm flagellum is essential for male fertility, and defects in flagellum biogenesis are associated with male infertility. Deficiency of coiled-coil domain-containing (CCDC) 42 (CCDC42) is specifically associated with malformation of mouse sperm flagella. Here, we find that the testis-specific protein CCDC38 interacts with CCDC42, localizing on the manchette and sperm tail during spermiogenesis. Inactivation of CCDC38 in male mice results in a distorted manchette, multiple morphological abnormalities of the flagella of spermatozoa and eventually male sterility. Furthermore, we find that CCDC38 interacts with intraflagellar transport protein 88 (IFT88), as well as outer dense fibrous 2 (ODF2), and the knockout of Ccdc38 reduces transport of ODF2 to the flagellum. Altogether, our results uncover the essential role of CCDC38 in sperm flagellum biogenesis, and suggest that some mutations of these genes might be associated with male infertility in humans.
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