Murakami H, Keeney S. Regulating the formation of DNA double-strand breaks in meiosis. Genes Dev. 2008;22:286–92. https://doi.org/10.1101/gad.1642308.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kim S, Peterson SE, Jasin M, Keeney S. Mechanisms of germ line genome instability. Semin Cell Dev Biol. 2016;54:177–87. https://doi.org/10.1016/j.semcdb.2016.02.019.

Article  CAS  PubMed  Google Scholar 

C. O’Connor, ‘Meiosis, genetic recombination, and sexual reproduction’. In Nature Education, 2008. http://www.nature.com/scitable/topicpage/meiosis-genetic-recombination-and-sexual-reproduction-210/. Accessed 03 Oct 2025.

Huang Y, Roig I. Genetic control of meiosis surveillance mechanisms in mammals. Front Cell Dev Biol. 2023;11:1127440. https://doi.org/10.3389/fcell.2023.1127440.

Article  PubMed  PubMed Central  Google Scholar 

Talibova G, Bilmez Y, Ozturk S. DNA double-strand break repair in male germ cells during spermatogenesis and its association with male infertility development. DNA Repair Amst. 2022;118:103386. https://doi.org/10.1016/j.dnarep.2022.103386.

Article  CAS  PubMed  Google Scholar 

Wu D, Liu C, Ding L. Follicular metabolic dysfunction, oocyte aneuploidy and ovarian aging: a review. J Ovarian Res. 2025;18:53. https://doi.org/10.1186/s13048-025-01633-2.

Article  PubMed  PubMed Central  Google Scholar 

Wang Y, Guo T, Ke H, Zhang Q, Li S, Luo W, et al. Pathogenic variants of meiotic double strand break (DSB) formation genes PRDM9 and ANKRD31 in premature ovarian insufficiency. Genet Med. 2021;23:2309–15. https://doi.org/10.1038/s41436-021-01266-y.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fakhro KA, Elbardisi H, Arafa M, Robay A, Rodriguez-Flores JL, Al-Shakaki A, et al. Point-of-care whole-exome sequencing of idiopathic male infertility. Genet Med. 2018;20:1365–73. https://doi.org/10.1038/gim.2018.10.

Article  CAS  PubMed  Google Scholar 

Ben Khelifa M, Ghieh F, Boudjenah R, Hue C, Fauvert D, Dard R, et al. A MEI1 homozygous missense mutation associated with meiotic arrest in a consanguineous family. Hum Reprod. 2018;33:1034–7. https://doi.org/10.1093/humrep/dey073.

Article  CAS  PubMed  Google Scholar 

Zangen D, Kaufman Y, Zeligson S, Perlberg S, Fridman H, Kanaan M, et al. XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription. Am J Hum Genet. 2011;89:572–9. https://doi.org/10.1016/j.ajhg.2011.09.006.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Riera-Escamilla A, Enguita-Marruedo A, Moreno-Mendoza D, Chianese C, Sleddens-Linkels E, Contini E, et al. Sequencing of a “mouse azoospermia” gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest. Hum Reprod. 2019;34:978–88. https://doi.org/10.1093/humrep/dez042.

Article  CAS  PubMed  Google Scholar 

Yang F, Silber S, Leu NA, Oates RD, Marszalek JD, Skaletsky H, et al. TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse. EMBO Mol Med. 2015;7:1198–210. https://doi.org/10.15252/emmm.201404967.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nawaz S, Ullah MI, Hamid BS, Nargis J, Nawaz M, Hussain S, et al. A loss-of-function variant in DNA mismatch repair gene MLH3 underlies severe oligozoospermia. J Hum Genet. 2021;66:725–30. https://doi.org/10.1038/s10038-021-00907-z.

Article  CAS  PubMed  Google Scholar 

Wan Y, Hong Z, Ma B, He X, Ma L, Wang M, et al. Identification of compound heterozygous variants in MSH4 as a novel genetic cause of diminished ovarian reserve. Reprod Biol Endocrinol. 2023;21:76. https://doi.org/10.1186/s12958-023-01127-0.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, et al. Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men. Genet Med. 2020;22:1956–66. https://doi.org/10.1038/s41436-020-0907-1.

Article  CAS  PubMed  PubMed Central  Google Scholar 

He W-B, Tu C-F, Liu Q, Meng L-L, Yuan S-M, Luo A-X, et al. DMC1 mutation that causes human non-obstructive azoospermia and premature ovarian insufficiency identified by whole-exome sequencing. J Med Genet. 2018;55:198–204. https://doi.org/10.1136/jmedgenet-2017-104992.

Article  CAS  PubMed  Google Scholar 

Gershoni M, Hauser R, Barda S, Lehavi O, Arama E, Pietrokovski S, et al. A new MEIOB mutation is a recurrent cause for azoospermia and testicular meiotic arrest. Hum Reprod. 2019;34:666–71. https://doi.org/10.1093/humrep/dez016.

Article  CAS  PubMed  Google Scholar 

Caburet S, Todeschini A-L, Petrillo C, Martini E, Farran ND, Legois B, et al. A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand breaks. EBioMedicine. 2019;42:524–31. https://doi.org/10.1016/j.ebiom.2019.03.075.

Article  PubMed  PubMed Central  Google Scholar 

Geoffroy V, Pizot C, Redin C, Piton A, Vasli N, Stoetzel C, et al. VaRank: a simple and powerful tool for ranking genetic variants. PeerJ. 2015;3:e796. https://doi.org/10.7717/peerj.796.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Backenroth D, Homsy J, Murillo LR, Glessner J, Lin E, Brueckner M, et al. CANOES: detecting rare copy number variants from whole exome sequencing data. Nucleic Acids Res. 2014;42:e97. https://doi.org/10.1093/nar/gku345.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Geoffroy V, Guignard T, Kress A, Gaillard J-B, Solli-Nowlan T, Schalk A, et al. AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis. Nucleic Acids Res. 2021;49:W21–8. https://doi.org/10.1093/nar/gkab402.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, et al. A genomic mutational constraint map using variation in 76,156 human genomes. Nature. 2024;625:92–100. https://doi.org/10.1038/s41586-023-06045-0.

Article  CAS  PubMed  Google Scholar 

Smith ED, Radtke K, Rossi M, Shinde DN, Darabi S, El-Khechen D, et al. Classification of genes: standardized clinical validity assessment of gene-disease associations aids diagnostic exome analysis and reclassifications. Hum Mutat. 2017;38:600–8. https://doi.org/10.1002/humu.23183.

Article  CAS  PubMed  Google Scholar 

Oud MS, Volozonoka L, Smits RM, Vissers LELM, Ramos L, Veltman JA. A systematic review and standardized clinical validity assessment of male infertility genes. Hum Reprod. 2019;34(5):932–41. https://doi.org/10.1093/humrep/dez022.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, et al. A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships. Hum Reprod Update. 2021;28:15–29. https://doi.org/10.1093/humupd/dmab030.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhao Q, Peng H, Chen J, Zhang H, Ma Y, Jiang H. A systematic review and evidence assessment of monogenic gene-disease relationships in human male infertility. Front Endocrinol (Lausanne). 2025;16:1643543. https://doi.org/10.3389/fendo.2025.1643543.

Article  PubMed