Mascarenhas MN, Flaxman SR, Boerma T, Vanderpoel S, Stevens GA. National, regional, and global trends in infertility prevalence since 1990: a systematic analysis of 277 health surveys. PLoS Med. 2012;9(12): e1001356.

Article  PubMed  PubMed Central  Google Scholar 

Schlegel PN, Sigman M, Collura B, De Jonge CJ, Eisenberg ML, Lamb DJ, et al. Diagnosis and Treatment of Infertility in Men: AUA/ASRM Guideline PART II. J Urol. 2021Jan;205(1):44–51.

Article  PubMed  Google Scholar 

Gunes S, Al-Sadaan M, Agarwal A. Spermatogenesis, DNA damage and DNA repair mechanisms in male infertility. Reprod Biomed Online. 2015Sep;31(3):309–19.

Article  CAS  PubMed  Google Scholar 

Qin J, Huang T, Wang J, Xu L, Dang Q, Xu X, et al. RAD51 is essential for spermatogenesis and male fertility in mice. Cell Death Discov. 2022Mar 15;8(1):118.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kottemann MC, Smogorzewska A. Fanconi anaemia and the repair of Watson and Crick DNA crosslinks. Nature. 2013Jan 17;493(7432):356–63.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Semlow DR, Walter JC. Mechanisms of Vertebrate DNA Interstrand Cross-Link Repair. Annu Rev Biochem. 2021;20(90):107–35.

Article  Google Scholar 

Tsui V, Crismani W. The Fanconi Anemia Pathway and Fertility. Trends Genet. 2019;35(3):199–214. https://doi.org/10.1016/j.tig.2018.12.007.

Article  CAS  PubMed  Google Scholar 

Krausz C, Riera-Escamilla A, Chianese C, Moreno-Mendoza D, Ars E, Rajmil O, Pujol R, et al. From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia. Genet Med. 2019Jan;21(1):189–94.

Article  CAS  PubMed  Google Scholar 

Yin H, Ma H, Hussain S, Zhang H, Xie X, Jiang L, et al. A homozygous FANCM frameshift pathogenic variant causes male infertility. Genet Med. 2019Jan;21(1):62–70.

Article  PubMed  Google Scholar 

Yang Y, Guo J, Dai L, Zhu Y, Hu H, Tan L, et al. XRCC2 mutation causes meiotic arrest, azoospermia and infertility. J Med Genet. 2018Sep;55(9):628–36.

Article  CAS  PubMed  Google Scholar 

Cheng NC, van de Vrugt HJ, van der Valk MA, Oostra AB, Krimpenfort P, de Vries Y, et al. Mice with a targeted disruption of the Fanconi anemia homolog Fanca. Hum Mol Genet. 2000Jul 22;9(12):1805–11.

Article  CAS  PubMed  Google Scholar 

Wong JC, Alon N, Mckerlie C, Huang JR, Meyn MS, Buchwald M. Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasia. Hum Mol Genet. 2003Aug 15;12(16):2063–76.

Article  CAS  PubMed  Google Scholar 

Nadler JJ, Braun RE. Fanconi anemia complementation group C is required for proliferation of murine primordial germ cells. Genesis. 2000Jul;27(3):117–23.

Article  CAS  PubMed  Google Scholar 

Sharan SK, Pyle A, Coppola V, Babus J, Swaminathan S, Benedict J, et al. BRCA2 deficiency in mice leads to meiotic impairment and infertility. Development. 2004Jan;131(1):131–42.

Article  CAS  PubMed  Google Scholar 

Houghtaling S, Timmers C, Noll M, Finegold MJ, Jones SN, Meyn MS, et al. Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice. Genes Dev. 2003Aug 15;17(16):2021–35.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Whitney MA, Royle G, Low MJ, Kelly MA, Axthelm MK, Reifsteck C, et al. Germ cell defects and hematopoietic hypersensitivity to gamma-interferon in mice with a targeted disruption of the Fanconi anemia C gene. Blood. 1996Jul 1;88(1):49–58.

Article  CAS  PubMed  Google Scholar 

Bakker ST, van de Vrugt HJ, Visser JA, Delzenne-Goette E, van der Wal A, Berns MA, et al. Fancf-deficient mice are prone to develop ovarian tumours. J Pathol. 2012Jan;226(1):28–39.

Article  CAS  PubMed  Google Scholar 

Koomen M, Cheng NC, van de Vrugt HJ, Godthelp BC, van der Valk MA, Oostra AB, et al. Reduced fertility and hypersensitivity to mitomycin C characterize Fancg/Xrcc9 null mice. Hum Mol Genet. 2002Feb 1;11(3):273–81.

Article  CAS  PubMed  Google Scholar 

Agoulnik AI, Lu B, Zhu Q, Truong C, Ty MT, Arango N, et al. A novel gene, Pog, is necessary for primordial germ cell proliferation in the mouse and underlies the germ cell deficient mutation, gcd. Hum Mol Genet. 2002Nov 15;11(24):3047–53.

Article  CAS  PubMed  Google Scholar 

Bakker ST, van de Vrugt HJ, Rooimans MA, Oostra AB, Steltenpool J, Delzenne-Goette E, et al. Fancm-deficient mice reveal unique features of Fanconi anemia complementation group M. Hum Mol Genet. 2009Sep 15;18(18):3484–95.

Article  CAS  PubMed  Google Scholar 

Crossan GP, van der Weyden L, Rosado IV, Langevin F, Gaillard PHL, McIntyre RE, et al. Disruption of mouse Slx4, a regulator of structure-specific nucleases, phenocopies Fanconi anemia. Nat Genet. 2011Feb;43(2):147–52.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fu C, Begum K, Jordan PW, He Y, Overbeek PA. Dearth and Delayed Maturation of Testicular Germ Cells in Fanconi Anemia E Mutant Male Mice. PLoS ONE. 2016Aug 3;11(8): e0159800.

Article  PubMed  PubMed Central  Google Scholar 

Fu C, Begum K, Overbeek PA. Primary Ovarian Insufficiency Induced by Fanconi Anemia E Mutation in a Mouse Model. PLoS ONE. 2016Mar 3;11(3): e0144285.

Article  PubMed  PubMed Central  Google Scholar 

Suye S, Yin H, Zhou Z, Zheng C, Ren Z, Shi L, et al. Histological and transcriptomic analysis of Fance-deficient PGCs reveal the possible mechanisms of their depletion. Reproduction. 2023Jun 12;166(1):65–75.

Article  CAS  PubMed  Google Scholar 

Zhou Z, Yin H, Suye S, Ren Z, Yan L, Shi L, et al. Fance deficiency inhibits primordial germ cell proliferation associated with transcription-replication conflicts accumulate and DNA repair defects. J Ovarian Res. 2023Aug 10;16(1):160.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yin H, Suye S, Zhou Z, Cai H, Fu C. The reduction of oocytes and disruption of the meiotic prophase I in Fanconi anemia E-deficient mice. Reproduction. 2022Jul 14;164(3):71–82.

Article  CAS  PubMed  Google Scholar 

Ceccaldi R, Rondinelli B, D’Andrea AD. Repair Pathway Choices and Consequences at the Double-Strand Break. Trends Cell Biol. 2016Jan;26(1):52–64.

Article  CAS  PubMed  Google Scholar 

Lei T, Du S, Peng Z, Chen L. Multifaceted regulation and functions of 53BP1 in NHEJ-mediated DSB repair (Review). Int J Mol Med. 2022Jul;50(1):90.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhao S, Huang C, Yang Y, Xu W, Yu Y, Wen C, et al. DNA repair protein FANCD2 has both ubiquitination-dependent and ubiquitination-independent functions during germ cell development. J Biol Chem. 2023Mar;299(3): 102905.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gura MA, Bartholomew MA, Abt KM, Relovská S, Seymour KA, Freiman RN. Transcription and chromatin regulation by TAF4b during cellular quiescence of developing prospermatogonia. Front Cell Dev Biol. 2023Oct;12(11):1270408.