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Rare variants in FANCJ induce premature ovarian insufficiency in humans and mice

doi: 10.1016/j.jgg.2023.03.013
Funds:  The authors gratefully thank the patients for participating and supporting this study. This work was supported by National Natural Science Foundation of China (32270658 and 32288101), National Key Research and Development Program of China (2022YFC2703800) and Natural Science Foundation of Shanghai (20ZR1407000).
  • Received Date: 2022-12-08
  • Revised Date: 2023-03-20
  • Accepted Date: 2023-03-29
  • Available Online: 2023-04-14
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  • [1]
    Brosh, R.M., Jr., Cantor, S.B., 2014. Molecular and cellular functions of the FANCJ DNA helicase defective in cancer and in Fanconi anemia. Front. Genet. 5, 372.
    [2]
    Cantor, S.B., Bell, D.W., Ganesan, S., Kass, E.M., Drapkin, R., Grossman, S., Wahrer, D.C., Sgroi, D.C., Lane, W.S., Haber, D.A., et al., 2001. BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. Cell 105, 149-160.
    [3]
    European Society for Human Reproduction and Embryology (ESHRE) Guideline Group on POI, Webber, L., Davies, M., Anderson, R., Bartlett, J., Braat, D., Cartwright, B., Cifkova, R., de Muinck Keizer-Schrama, S., Hogervorst, E., Janse, F., et al., 2016. ESHRE Guideline: management of women with premature ovarian insufficiency. Hum. Reprod. 31, 926-937.
    [4]
    Golezar, S., Ramezani Tehrani, F., Khazaei, S., Ebadi, A., Keshavarz, Z., 2019. The global prevalence of primary ovarian insufficiency and early menopause: a meta-analysis. Climacteric 22, 403-411.
    [5]
    Gong, Z., Kim, J.E., Leung, C.C., Glover, J.N., Chen, J., 2010. BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control. Mol. Cell 37, 438-446.
    [6]
    Hao, M., Pu, W., Li, Y., Wen, S., Sun, C., Ma, Y., Zheng, H., Chen, X., Tan, J., Zhang, G., et al., 2021. The HuaBiao project: whole-exome sequencing of 5000 Han Chinese individuals. J. Genet. Genomics 48, 1032-1035.
    [7]
    Jiao, X., Ke, H., Qin, Y., Chen, Z.J., 2018. Molecular Genetics of Premature Ovarian Insufficiency. Trends Endocrinol. Metab. 29, 795-807.
    [8]
    Kagiwada, S., Kurimoto, K., Hirota, T., Yamaji, M., Saitou, M., 2013. Replication-coupled passive DNA demethylation for the erasure of genome imprints in mice. EMBO J. 32, 340-353.
    [9]
    Matsuzaki, K., Borel, V., Adelman, C.A., Schindler, D., Boulton, S.J., 2015. FANCJ suppresses microsatellite instability and lymphomagenesis independent of the Fanconi anemia pathway. Genes Dev. 29, 2532-2546.
    [10]
    Peng, M., Litman, R., Xie, J., Sharma, S., Brosh, R.M., Jr., Cantor, S.B., 2007. The FANCJ/MutLalpha interaction is required for correction of the cross-link response in FA-J cells. EMBO J. 26, 3238-3249.
    [11]
    Percharde, M., Wong, P., Ramalho-Santos, M., 2017. Global Hypertranscription in the Mouse Embryonic Germline. Cell Rep. 19, 1987-1996.
    [12]
    Pollard, K.S., Hubisz, M.J., Rosenbloom, K.R., Siepel, A., 2010. Detection of nonneutral substitution rates on mammalian phylogenies. Genome Res. 20, 110-121.
    [13]
    Rafnar, T., Gudbjartsson, D.F., Sulem, P., Jonasdottir, A., Sigurdsson, A., Jonasdottir, A., Besenbacher, S., Lundin, P., Stacey, S.N., Gudmundsson, J., et al., 2011. Mutations in BRIP1 confer high risk of ovarian cancer. Nat. Genet. 43, 1104-1107.
    [14]
    Seal, S., Thompson, D., Renwick, A., Elliott, A., Kelly, P., Barfoot, R., Chagtai, T., Jayatilake, H., Ahmed, M., Spanova, K., et al., 2006. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat. Genet. 38, 1239-1241.
    [15]
    Sun, X., Brieno-Enriquez, M.A., Cornelius, A., Modzelewski, A.J., Maley, T.T., Campbell-Peterson, K.M., Holloway, J.K., Cohen, P.E., 2016. FancJ (Brip1) loss-of-function allele results in spermatogonial cell depletion during embryogenesis and altered processing of crossover sites during meiotic prophase I in mice. Chromosoma 125, 237-252.
    [16]
    Tian, S., Wang, Z., Liu, L., Zhou, Y., Lv, Y., Tang, D., Wang, J., Jiang, J., Wu, H., Tang, S., et al., 2023. A homozygous frameshift mutation in ADAD2 causes male infertility with spermatogenic impairments. J. Genet. Genomics S1673-8527(22)00284-3.
    [17]
    Vanni, V.S., Campo, G., Cioffi, R., Papaleo, E., Salonia, A., Vigano, P., Lambertini, M., Candiani, M., Meirow, D., Orvieto, R., 2022. The neglected members of the family: non-BRCA mutations in the Fanconi anemia/BRCA pathway and reproduction. Hum. Reprod. Update 28, 296-311.
    [18]
    Yang, Y., Xu, W., Gao, F., Wen, C., Zhao, S., Yu, Y., Jiao, W., Mi, X., Qin, Y., Chen, Z.J., et al., 2022. Transcription-replication conflicts in primordial germ cells necessitate the Fanconi anemia pathway to safeguard genome stability. Proc. Natl. Acad. Sci. U. S. A. 119, e2203208119.
    [19]
    Zhou, Z., Yang, X., Pan, Y., Shang, L., Chen, S., Yang, J., Jin, L., Zhang, F., Wu, Y., 2021. Temporal transcriptomic landscape of postnatal mouse ovaries reveals dynamic gene signatures associated with ovarian aging. Hum. Mol. Genet. 30, 1941-1954.
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