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Publication : BBOF1 is required for sperm motility and male fertility by stabilizing the flagellar axoneme in mice.

First Author  Cao H Year  2023
Journal  Cell Mol Life Sci Volume  80
Issue  6 Pages  152
PubMed ID  37198331 Mgi Jnum  J:343412
Mgi Id  MGI:7565919 Doi  10.1007/s00018-023-04800-0
Citation  Cao H, et al. (2023) BBOF1 is required for sperm motility and male fertility by stabilizing the flagellar axoneme in mice. Cell Mol Life Sci 80(6):152
abstractText  The sperm flagellum is a specialized type of motile cilium composed of a typical "9 + 2" axonemal structure with peri-axonemal structures, such as outer dense fibers (ODFs). This flagellar arrangement is crucial for sperm movement and fertilization. However, the association of axonemal integrity with ODFs remains poorly understood. Here, we demonstrate that mouse BBOF1 could interact with both MNS1, an axonemal component, and ODF2, an ODF protein, and is required for sperm flagellar axoneme maintenance and male fertility. BBOF1 is expressed exclusively in male germ cells from the pachytene stage onwards and is detected in sperm axoneme fraction. Spermatozoa derived from Bbof1-knockout mice exhibit a normal morphology, however, reduced motility due to the absence of certain microtubule doublets, resulting in the failure to fertilize mature oocytes. Furthermore, BBOF1 is found to interact with ODF2 and MNS1 and is also required for their stability. Our findings in mice suggest that Bbof1 could also be essential for human sperm motility and male fertility, thus is a novel potential candidate gene for asthenozoospermia diagnosis.
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