Zhu Yun, Lin Tingting, Yin Guoliang, Tai Linhua, Chen Lianwan, Ma Jing, Huang Guoning, Lu Yi, Zhang Zhiyong, Wang Binbin, Chen Suren, Sun Fei
National Laboratory of Biomacromolecules, Institute of Biophysics, Chinese Academy of Sciences, Beijing, China.
Chongqing Key Laboratory of Human Embryo Engineering and Precision Medicine, Center for Reproductive Medicine, Women and Children's Hospital of Chongqing Medical University, Chongqing, China.
Cell Res. 2025 Jun 5. doi: 10.1038/s41422-025-01135-2.
The central apparatus (CA) within the sperm axoneme is vital for sperm motility, yet its molecular architecture and functional mechanisms remain incompletely understood. Combining cryo-electron tomography and AlphaFold2, we resolved the in-cell structure of mouse sperm CA at a subnanometer resolution and built a near-complete atomic model. Our analysis identified 39 CA-associated proteins, including eight previously unreported components. By presenting the full-length structures of CFAP47 and HYDIN, we elucidate their molecular roles in tethering the C1 and C2 microtubules within the CA. Specifically, HYDIN forms a semicircular chain that encircles C1 and C2, with its N-terminal half driving the C1-C2 connection and its C-terminal half providing axial support in C2. CFAP47, the core structural component of the bridge, binds C1 through its N-terminal domains, interacts with HYDIN via its central CFAP47-ring, and anchors to C2 through its C-terminal region. The significantly reduced sperm motility and impaired CA structure observed in Cfap47-knockout mice confirmed the important role of CFAP47. Furthermore, genetic analysis of infertile Chinese men with asthenozoospermia identified previously unreported mutations in the CFAP47. The CA structural model elucidates the pathogenic mechanisms of these mutations, establishing a direct link between CFAP47 dysfunction and impaired sperm motility. Therefore, our study provides mechanistic insights into CA-related fertility disorders.
精子轴丝中的中心装置(CA)对精子运动至关重要,但其分子结构和功能机制仍未完全明确。结合冷冻电子断层扫描和AlphaFold2,我们以亚纳米分辨率解析了小鼠精子CA的细胞内结构,并构建了一个近乎完整的原子模型。我们的分析鉴定出39种与CA相关的蛋白质,包括8种先前未报道的成分。通过展示CFAP47和HYDIN的全长结构,我们阐明了它们在连接CA内C1和C2微管中的分子作用。具体而言,HYDIN形成一个环绕C1和C2的半圆形链,其N端驱动C1-C2连接,C端在C2中提供轴向支撑。CFAP47作为桥的核心结构成分,通过其N端结构域与C1结合,通过其中心CFAP47环与HYDIN相互作用,并通过其C端区域锚定到C2。在Cfap47基因敲除小鼠中观察到精子运动显著降低和CA结构受损,证实了CFAP47的重要作用。此外,对中国弱精子症不育男性的基因分析发现了CFAP47中先前未报道的突变。CA结构模型阐明了这些突变的致病机制,建立了CFAP47功能障碍与精子运动受损之间的直接联系。因此,我们的研究为与CA相关的生育障碍提供了机制性见解。