• PMID: 19091768
• Gene Name: HOOK1
• Condition: Manchette-associated protein essential for spermiogenesis
• Association: Associated
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Manchette-associated protein essential for spermiogenesis

RIM-BP3 is a manchette-associated protein essential for spermiogenesis

Zhou J, Du YR, Qin WH, Hu YG, Huang YN, Bao L, Han D, Mansouri A, Xu GL.

During spermiogenesis, round spermatids are converted into motile sperm in mammals. The mechanisms responsible for sperm morphogenesis are poorly understood. We have characterized a novel protein, RIM-BP3, with a specialized function in spermatid development in mice. The RIM-BP3 protein is associated with the manchette, a transient microtubular structure believed to be important for morphogenesis during spermiogenesis. Targeted deletion of the RIM-BP3 gene resulted in male infertility owing to abnormal sperm heads, which are characterized by a deformed nucleus and a detached acrosome. Consistent with its role in morphogenesis, the RIM-BP3 protein physically associates with Hook1, a known manchette-bound protein required for sperm head morphogenesis. Interestingly, RIM-BP3 does not interact with the truncated Hook1 protein characterized in azh (abnormal spermatozoon head) mutant mice. Moreover, RIM-BP3 and Hook1 mutant mice display several common abnormalities, in particular with regard to the ectopic positioning of the manchette within the spermatid, a presumed cause of sperm head deformities. These observations suggest an essential role for RIM-BP3 in manchette development and function through its interaction with Hook1. As the occurrence of deformed spermatids is one of the common abnormalities leading to malfunctional sperm, identification of RIM-BP3 might provide insight into the molecular cue underlying causes of male infertility in humans. FAU - Zhou, Jing AU - Zhou J AD - The State Key Laboratory of Molecular Biology, Institute of Biochemistry and Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, 320 Yueyang Road, Shanghai 200031, China. FAU - Du, Ya-Rui AU - Du YR FAU - Qin, Wei-Hua AU - Qin WH FAU - Hu, Ye-Guang AU - Hu YG FAU - Huang, Yan-Nv AU - Huang YN FAU - Bao, Lan AU - Bao L FAU - Han, Daishu AU - Han D FAU - Mansouri, Ahmed AU - Mansouri A