A homozygous frameshift mutation in <i>ADAD2</i> causes male infertility with spermatogenic impairments

Shixiong Tian; Ziqi Wang; Liting Liu; Yiling Zhou; Yue Lv; Dongdong Tang; Jiaxiong Wang; Jing Jiang; Huan Wu; Shuyan Tang; Guanxiong Wang; Hao Geng; Fangbiao Tao; Hongbin Liu; Xiaojin He; Feng Zhang; Jinsong Li; Li Jin; Tao Huang; Chunyu Liu; Yunxia Cao

doi:10.1016/j.jgg.2022.12.004

Volume 50 Issue 4

Apr. 2023

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Article Navigation > Journal of Genetics and Genomics > 2023 > 50(4): 284-288

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A homozygous frameshift mutation in ADAD2 causes male infertility with spermatogenic impairments

doi: 10.1016/j.jgg.2022.12.004

Shixiong Tian^1,2,
Ziqi Wang^3,4,
Liting Liu^5,6,
Yiling Zhou⁷,
Yue Lv^9,10,11,
Dongdong Tang^12,13,14,
Jiaxiong Wang¹⁵,
Jing Jiang¹⁶,
Huan Wu^17,18,19,
Shuyan Tang²⁰,
Guanxiong Wang^21,22,
Hao Geng^23,24,25,
Fangbiao Tao^23,24,25,
Hongbin Liu^26,27,
Xiaojin He^28,29,30,
Feng Zhang^31,32,
Jinsong Li³³,
Li Jin³⁴,
Tao Huang^35,36,
Chunyu Liu^37,38,
Yunxia Cao^39,40,41

1. Institute of Metabolism and Integrative Biology, State Key Laboratory of Genetic Engineering, Human Phenome Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai 200011, China;
2. Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Institute of Reproduction and Development, Fudan University, Shanghai 200011, China;
3. Center for Reproductive Medicine, Shandong University, Jinan, Shandong 250012, China;
4. Key Laboratory of Reproductive Endocrinology of Ministry of Education, Shandong University, Jinan, Shandong 250012, China;
5. Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230022, China;
6. NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, Anhui 230032, China;
7. Institute of Metabolism and Integrative Biology, State Key Laboratory of Genetic Engineering, Human Phenome Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai 200011, China;
9. Center for Reproductive Medicine, Shandong University, Jinan, Shandong 250012, China;
10. Key Laboratory of Reproductive Endocrinology of Ministry of Education, Shandong University, Jinan, Shandong 250012, China;
11. Shandong Key Laboratory of Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong 250012, China;
12. Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230022, China;
13. NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, Anhui 230032, China;
14. Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, Anhui 230032, China;
15. Center for Reproduction and Genetics, State Key Laboratory of Reproductive Medicine, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Suzhou, Jiangsu 215002, China;
16. Genome Tagging Project (GTP) Center, Shanghai Institute of Biochemistry and Cell Biology, Center for Excellence in Molecular Cell Science, Chinese Academy of Sciences, Shanghai 200031, China;
17. Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230022, China;
18. Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, Anhui 230032, China;
19. NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, Anhui 230032, China;
20. Institute of Metabolism and Integrative Biology, State Key Laboratory of Genetic Engineering, Human Phenome Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai 200011, China;
21. Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230022, China;
22. NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, Anhui 230032, China;
23. Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230022, China;
24. NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, Anhui 230032, China;
25. Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, Anhui 230032, China;
26. Center for Reproductive Medicine, Shandong University, Jinan, Shandong 250012, China;
27. Key Laboratory of Reproductive Endocrinology of Ministry of Education, Shandong University, Jinan, Shandong 250012, China;
28. Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230022, China;
29. NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, Anhui 230032, China;
30. Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, Anhui 230032, China;
31. Institute of Metabolism and Integrative Biology, State Key Laboratory of Genetic Engineering, Human Phenome Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai 200011, China;
32. Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Institute of Reproduction and Development, Fudan University, Shanghai 200011, China;
33. Genome Tagging Project (GTP) Center, Shanghai Institute of Biochemistry and Cell Biology, Center for Excellence in Molecular Cell Science, Chinese Academy of Sciences, Shanghai 200031, China;
34. Institute of Metabolism and Integrative Biology, State Key Laboratory of Genetic Engineering, Human Phenome Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai 200011, China;
35. Center for Reproductive Medicine, Shandong University, Jinan, Shandong 250012, China;
36. Key Laboratory of Reproductive Endocrinology of Ministry of Education, Shandong University, Jinan, Shandong 250012, China;
37. Institute of Metabolism and Integrative Biology, State Key Laboratory of Genetic Engineering, Human Phenome Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai 200011, China;
38. Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Institute of Reproduction and Development, Fudan University, Shanghai 200011, China

Funds:

the Shanghai Municipal Science and Technology Major Project (2017SHZDZX01) and the Scientific Research (TP202002) from Anhui Medical University, the China Postdoctoral Science Foundation (2020TQ0072), the Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences (2019PT310002). We would like to thank the families for participating and supporting this investigation. Adad2-C-HA mice were supplied by Genome Tagging Project (GTP) Center, CEMCS, CAS, which was supported by Shanghai Municipal Commission for Science and Technology Grants (19411951800). We also thank the Center of Cryo-electron Microscopy at Zhejiang University for technical support.

This study was supported by the National Key Research and Development Program of China (2021YFC2701400 and 2021YFC2700901), the National Natural Science Foundation of China (32100480, 82171607, and 81971441)

Received Date: 2022-08-26
Accepted Date: 2022-12-23
Rev Recd Date: 2022-12-15
Publish Date: 2023-04-30

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References(15)

References

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