Pathogenic <i>TDRD12</i> variants cause defective piRNA pathway and male infertility in humans and mice

Ziyou Bao; Yan Wang; Renxue Wang; Fan Dong; Tongtong Li; Wai-Yee Chan; Zi-Jiang Chen; Gang Lu; Hongbin Liu; Xiangfeng Chen

doi:10.1016/j.jgg.2024.06.014

Volume 51 Issue 11

Nov. 2024

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Pathogenic TDRD12 variants cause defective piRNA pathway and male infertility in humans and mice

doi: 10.1016/j.jgg.2024.06.014

Ziyou Bao^{1,2,3,4,5,6,7},
Yan Wang^{1,2,3,4,5,6,7},
Renxue Wang^{1,2,3,4,5,6,7},
Fan Dong^8,9,
Tongtong Li^{10,11,12,13,14,15,16},
Wai-Yee Chan¹⁷,
Zi-Jiang Chen^{18,19,20,21,22,23,24,25,26,27},
Gang Lu²⁸,
Hongbin Liu^{29,30,31,32,33,34,35,36,37},
Xiangfeng Chen^38,39,40

1. State Key Laboratory of Reproductive Medicine and Offspring Health, Center for Reproductive Medicine, Institute of Women, Children and Reproductive Health, Shandong University, Jinan, Shandong 250012, China;
2. National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Shandong University, Jinan, Shandong 250012, China;
3. Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Jinan, Shandong 250012, China;
4. Shandong Technology Innovation Center for Reproductive Health, Jinan, Shandong 250012, China;
5. Shandong Provincial Clinical Research Center for Reproductive Health, Jinan, Shandong 250012, China;
6. Shandong Key Laboratory of Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong 250012, China;
7. Research Unit of Gametogenesis and Health of ART-Offspring, Chinese Academy of Medical Sciences (No. 2021RU001), Jinan, Shandong 250012, China;
8. Department of Reproductive Medicine, Ren Ji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200000, China;
9. Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai 200000, China;
10. State Key Laboratory of Reproductive Medicine and Offspring Health, Center for Reproductive Medicine, Institute of Women, Children and Reproductive Health, Shandong University, Jinan, Shandong 250012, China;
11. National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Shandong University, Jinan, Shandong 250012, China;
12. Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Jinan, Shandong 250012, China;
13. Shandong Technology Innovation Center for Reproductive Health, Jinan, Shandong 250012, China;
14. Shandong Provincial Clinical Research Center for Reproductive Health, Jinan, Shandong 250012, China;
15. Shandong Key Laboratory of Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong 250012, China;
16. Research Unit of Gametogenesis and Health of ART-Offspring, Chinese Academy of Medical Sciences (No. 2021RU001), Jinan, Shandong 250012, China;
17. CUHK-SDU Joint Laboratory on Reproductive Genetics, School of Biomedical Sciences, the Chinese University of Hong Kong, Hong Kong, China;
18. State Key Laboratory of Reproductive Medicine and Offspring Health, Center for Reproductive Medicine, Institute of Women, Children and Reproductive Health, Shandong University, Jinan, Shandong 250012, China;
19. National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Shandong University, Jinan, Shandong 250012, China;
20. Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Jinan, Shandong 250012, China;
21. Shandong Technology Innovation Center for Reproductive Health, Jinan, Shandong 250012, China;
22. Shandong Provincial Clinical Research Center for Reproductive Health, Jinan, Shandong 250012, China;
23. Shandong Key Laboratory of Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong 250012, China;
24. Research Unit of Gametogenesis and Health of ART-Offspring, Chinese Academy of Medical Sciences (No. 2021RU001), Jinan, Shandong 250012, China;
25. Department of Reproductive Medicine, Ren Ji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200000, China;
26. Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai 200000, China;
27. CUHK-SDU Joint Laboratory on Reproductive Genetics, School of Biomedical Sciences, the Chinese University of Hong Kong, Hong Kong, China;
28. CUHK-SDU Joint Laboratory on Reproductive Genetics, School of Biomedical Sciences, the Chinese University of Hong Kong, Hong Kong, China;
29. State Key Laboratory of Reproductive Medicine and Offspring Health, Center for Reproductive Medicine, Institute of Women, Children and Reproductive Health, Shandong University, Jinan, Shandong 250012, China;
30. National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Shandong University, Jinan, Shandong 250012, China;
31. Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Jinan, Shandong 250012, China;
32. Shandong Technology Innovation Center for Reproductive Health, Jinan, Shandong 250012, China;
33. Shandong Provincial Clinical Research Center for Reproductive Health, Jinan, Shandong 250012, China;
34. Shandong Key Laboratory of Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong 250012, China;
35. Research Unit of Gametogenesis and Health of ART-Offspring, Chinese Academy of Medical Sciences (No. 2021RU001), Jinan, Shandong 250012, China;
36. CUHK-SDU Joint Laboratory on Reproductive Genetics, School of Biomedical Sciences, the Chinese University of Hong Kong, Hong Kong, China;
37. Advanced Medical Research Institute, Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250012, China;
38. State Key Laboratory of Reproductive Medicine and Offspring Health, Center for Reproductive Medicine, Institute of Women, Children and Reproductive Health, Shandong University, Jinan, Shandong 250012, China;
39. Department of Reproductive Medicine, Ren Ji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200000, China;
40. Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai 200000, China

Funds:

This work was supported by the National Key R&D Program of China (2023YFC2705503), Major Innovation Projects in Shandong Province (2021ZDSYS16), the National Natural Science Foundation of China (82071699 and 82371619), CAMS Innovation Fund for Medical Sciences (2021-I2M-5-001), the Basic Science Center Program of NSFC (31988101), Science Foundation for Distinguished Young Scholars of Shandong (ZR2021JQ27), and Taishan Scholars Program for Young Experts of Shandong Province (tsqn202103192).

Received Date: 2024-04-17
Accepted Date: 2024-06-24
Rev Recd Date: 2024-06-21

Available Online: 2025-06-06

Publish Date: 2024-07-01

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References(15)

References

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