Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency

Agoulnik AI, Lu B, Zhu Q, Truong C, Ty MT, Arango N, Chada KK, Bishop CE (2002) 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 11(24):3047–3053. https://doi.org/10.1093/hmg/11.24.3047

Article  CAS  PubMed  Google Scholar 

Alavattam KG, Kato Y, Sin HS, Maezawa S, Kowalski IJ, Zhang F, Pang Q, Andreassen PR, Namekawa SH (2016) Elucidation of the fanconi anemia protein network in meiosis and its function in the regulation of histone modifications. Cell Rep 17(4):1141–1157. https://doi.org/10.1016/j.celrep.2016.09.073

Article  CAS  PubMed  PubMed Central  Google Scholar 

Alter BP, Frissora CL, Halpérin DS, Freedman MH, Chitkara U, Alvarez E, Lynch L, Adler-Brecher B, Auerbach AD (1991) Fanconi’s anaemia and pregnancy. Br J Haematol 77(3):410–418. https://doi.org/10.1111/j.1365-2141.1991.tb08593.x

Article  CAS  PubMed  Google Scholar 

Auerbach AD (2009) Fanconi anemia and its diagnosis. Mutat Res 668(1–2):4–10. https://doi.org/10.1016/j.mrfmmm.2009.01.013

Article  CAS  PubMed  PubMed Central  Google Scholar 

Badra Fajardo N, Taraviras S, Lygerou Z (2022) Fanconi anemia proteins and genome fragility: unraveling replication defects for cancer therapy. Trends Cancer 8(6):467–481. https://doi.org/10.1016/j.trecan.2022.01.015

Article  CAS  PubMed  Google Scholar 

Ceccaldi R, Sarangi P, D’Andrea AD (2016) The Fanconi anaemia pathway: new players and new functions. Nat Rev Mol Cell Biol 17(6):337–349. https://doi.org/10.1038/nrm.2016.48

Article  CAS  PubMed  Google Scholar 

Che R, Zhang J, Nepal M, Han B, Fei P (2018) Multifaceted Fanconi anemia signaling. Trends Genet 34(3):171–183. https://doi.org/10.1016/j.tig.2017.11.006

Article  CAS  PubMed  Google Scholar 

Dai J, Voloshin O, Potapova S, Camerini-Otero RD (2017) Meiotic knockdown and complementation reveals essential role of RAD51 in mouse spermatogenesis. Cell Rep 18(6):1383–1394. https://doi.org/10.1016/j.celrep.2017.01.024

Article  CAS  PubMed  PubMed Central  Google Scholar 

Day FR, Ruth KS, Thompson DJ et al (2015) Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. Nat Genet 47(11):1294–1303. https://doi.org/10.1038/ng.3412

Article  CAS  PubMed  PubMed Central  Google Scholar 

Deans AJ, West SC (2011) DNA interstrand crosslink repair and cancer. Nat Rev Cancer 11(7):467–480. https://doi.org/10.1038/nrc3088

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dorsman JC, Levitus M, Rockx D, Rooimans MA, Oostra AB et al (2007) Identification of the Fanconi anemia complementation group I gene. FANCI Cell Oncol 29(3):211–218. https://doi.org/10.1155/2007/151968

Article  CAS  PubMed  Google Scholar 

Dubois EL, Guitton-Sert L, Béliveau M et al (2019) A Fanci knockout mouse model reveals common and distinct functions for FANCI and FANCD2. Nucleic Acids Res 47(14):7532–7547. https://doi.org/10.1093/nar/gkz514

Article  CAS  PubMed  PubMed Central  Google Scholar 

European Society for Human R, Embryology Guideline Group on POI, Webber L et al (2016) ESHRE Guideline: management of women with premature ovarian insufficiency. Hum Reprod 31(5):926–937. https://doi.org/10.1093/humrep/dew027

Fierheller CT, Guitton-Sert L, Alenezi WM et al (2021) A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene. Genome Med 13(1):186. https://doi.org/10.1186/s13073-021-00998-5

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fouquet B, Pawlikowska P, Caburet S et al (2017) A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency. Elife. https://doi.org/10.7554/eLife.30490

Article  PubMed  PubMed Central  Google Scholar 

Guitton-Sert L, Gao Y, Masson JY (2021) Animal models of Fanconi anemia: a developmental and therapeutic perspective on a multifaceted disease. Semin Cell Dev Biol 113:113–131. https://doi.org/10.1016/j.semcdb.2020.11.010

Article  CAS  PubMed  Google Scholar 

Hill RJ, Crossan GP (2019) DNA cross-link repair safeguards genomic stability during premeiotic germ cell development. Nat Genet 51(8):1283–1294. https://doi.org/10.1038/s41588-019-0471-2

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kato Y, Alavattam KG, Sin HS, Meetei AR, Pang Q, Andreassen PR, Namekawa SH (2015) FANCB is essential in the male germline and regulates H3K9 methylation on the sex chromosomes during meiosis. Hum Mol Genet 24(18):5234–5249. https://doi.org/10.1093/hmg/ddv244

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ke H, Tang S, Guo T et al (2023) Landscape of pathogenic mutations in premature ovarian insufficiency. Nat Med 29(2):483–492. https://doi.org/10.1038/s41591-022-02194-3

Article  CAS  PubMed  PubMed Central  Google Scholar 

Knipscheer P, Raschle M, Smogorzewska A, Enoiu M, Ho TV, Scharer OD, Elledge SJ, Walter JC (2009) The Fanconi anemia pathway promotes replication-dependent DNA interstrand cross-link repair. Science 326(5960):1698–1701. https://doi.org/10.1126/science.1182372

Article  ADS  CAS  PubMed  PubMed Central  Google Scholar 

Kotsantis P, Petermann E, Boulton SJ (2018) Mechanisms of oncogene-induced replication stress: jigsaw falling into place. Cancer Discov 8(5):537–555. https://doi.org/10.1158/2159-8290.Cd-17-1461

Article  CAS  PubMed  PubMed Central  Google Scholar 

Krausz C, Riera-Escamilla A, Chianese C et al (2019) From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia. Genet Med 21(1):189–194. https://doi.org/10.1038/s41436-018-0037-1

Article  CAS  PubMed  Google Scholar 

Kuznetsov S, Pellegrini M, Shuda K et al (2007) RAD51C deficiency in mice results in early prophase I arrest in males and sister chromatid separation at metaphase II in females. J Cell Biol 176(5):581–592. https://doi.org/10.1083/jcb.200608130

Article  CAS  PubMed  PubMed Central  Google Scholar 

Li M, Zhu Y, Wei J, Chen L, Chen S, Lai D (2023) The global prevalence of premature ovarian insufficiency: a systematic review and meta-analysis. Climacteric 26(2):95–102. https://doi.org/10.1080/13697137.2022.2153033

Article  CAS  PubMed  Google Scholar 

Luo Y, Hartford SA, Zeng R, Southard TL, Shima N, Schimenti JC (2014) Hypersensitivity of primordial germ cells to compromised replication-associated DNA repair involves ATM-p53-p21 signaling. PLoS Genet 10(7):e1004471. https://doi.org/10.1371/journal.pgen.1004471

Article  CAS  PubMed  PubMed Central  Google Scholar 

Matsuzaki K, Borel V, Adelman CA, Schindler D, Boulton SJ (2015) FANCJ suppresses microsatellite instability and lymphomagenesis independent of the Fanconi anemia pathway. Genes Dev 29(24):2532–2546. https://doi.org/10.1101/gad.272740.115

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nadler JJ, Braun RE (2000) Fanconi anemia complementation group C is required for proliferation of murine primordial germ cells. Genesis 27(3):117–123. https://doi.org/10.1002/1526-968x(200007)27:3

Article  CAS  PubMed  Google Scholar 

Nalepa G, Clapp DW (2018) Fanconi anaemia and cancer: an intricate relationship. Nat Rev Cancer 18(3):168–185. https://doi.org/10.1038/nrc.2017.116

Article  CAS  PubMed  Google Scholar 

Niraj J, Färkkilä A, D’Andrea AD (2019) The Fanconi anemia pathway in cancer. Annu Rev Cancer Biol 3:457–478. https://doi.org/10.1146/annurev-cancerbio-030617-050422

Article  PubMed  Google Scholar 

Panier S, Boulton SJ (2014) Double-strand break repair: 53BP1 comes into focus. Nat Rev Mol Cell Biol 15(1):7–18. https://doi.org/10.1038/nrm3719

Article  CAS  PubMed  Google Scholar 

Pellas TC, Ramachandran B, Duncan M, Pan SS, Marone M, Chada K (1991) Germ-cell deficient (gcd), an insertional mutation manifested as infertility in transgenic mice. Proc Natl Acad Sci USA 88(19):8787–8791. https://doi.org/10.1073/pnas.88.19.8787

Article  ADS  CAS  PubMed  PubMed Central  Google Scholar 

Perry JR, Corre T, Esko T et al (2013) A genome-wide association study of early menopause and the combined impact of identified variants. Hum Mol Genet 22(7):1465–1472. https://doi.org/10.1093/hmg/dds551

Article  CAS  PubMed 

留言 (0)

沒有登入
gif