This study identifies DNAH3 variants in infertile men and shows that DNAH3 deficiency causes flagellar inner dynein arm loss and male infertility in humans and mice.

eLife · Nov 6, 2024Peer-reviewedGenetics

Deficiency of IQCH causes male infertility in humans and mice

Tiechao Ruan, Ruixi Zhou, Yihong Yang, Junchen Guo, Chuan Jiang, Xiang Wang, Gan Shen, Siyu Dai, Su‐Ren Chen, Ying Shen

This study identifies IQCH as a gene critical for male fertility, showing that its deficiency causes infertility in humans and mice through defects in sperm structure and function.

eLife · Jul 19, 2024Peer-reviewedGenetics

Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function.

Denis Dacheux, Guillaume Martinez, Christine E. Broster Reix, Julie Beurois, Patrick Lorès, Magamba Tounkara, Jean‐William Dupuy, Derrick Roy Robinson, Corinne Loeuillet, Emeline Lambert, Zeina Wehbe, Jessica Escoffier, Amir Amiri‐Yekta, Abbas Daneshipour, Seyedeh‐Hanieh Hosseini, , Charles Coutton

The paper identifies ZMYND12 as a gene associated with male infertility and flagellum function through genetic and functional studies in humans and Trypanosoma brucei.

eLife · Nov 7, 2023Peer-reviewedGenetics

Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella development

Hui-Juan Jin, Tiechao Ruan, Siyu Dai, Xinyan Geng, Yihong Yang, Ying Shen, Su‐Ren Chen

This study identifies CFAP52 mutations as a cause of male infertility with sperm head-tail connection and flagella defects in humans and mice, showing CFAP52's role in sperm development and potential as a diagnostic target.

bioRxiv · Oct 8, 2023 · PreprintGenetics