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Publication : Genetic mutation of Cep76 results in male infertility due to abnormal sperm tail composition.

First Author  Houston BJ Year  2024
Journal  Life Sci Alliance Volume  7
Issue  6 PubMed ID  38570187
Mgi Jnum  J:392670 Mgi Id  MGI:7619347
Doi  10.26508/lsa.202302452 Citation  Houston BJ, et al. (2024) Genetic mutation of Cep76 results in male infertility due to abnormal sperm tail composition. Life Sci Alliance 7(6)
abstractText  The transition zone is a specialised gate at the base of cilia/flagella, which separates the ciliary compartment from the cytoplasm and strictly regulates protein entry. We identified a potential new regulator of the male germ cell transition zone, CEP76. We demonstrated that CEP76 was involved in the selective entry and incorporation of key proteins required for sperm function and fertility into the ciliary compartment and ultimately the sperm tail. In the mutant, sperm tails were shorter and immotile as a consequence of deficits in essential sperm motility proteins including DNAH2 and AKAP4, which accumulated at the sperm neck in the mutant. Severe annulus, fibrous sheath, and outer dense fibre abnormalities were also detected in sperm lacking CEP76. Finally, we identified that CEP76 dictates annulus positioning and structure. This study suggests CEP76 as a male germ cell transition zone protein and adds further evidence to the hypothesis that the spermatid transition zone and annulus are part of the same functional structure.
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