J. Mcclellan and M. King, Genetic heterogeneity in human disease, Cell, vol.141, pp.210-217, 2010.

S. Lobitz and E. Velleuer, Guido Fanconi (1892-1979): a jack of all trades, Nat. Rev. Cancer, vol.6, pp.893-898, 2006.

M. Kottemann and A. Smogorzewska, Fanconi anaemia and the repair of Watson and Crick DNA crosslinks, Nature, vol.493, pp.356-363, 2013.

S. Bakker, J. De-winter, and H. Te-riele, Learning from a paradox: recent insights into Fanconi anaemia through studying mouse models, Dis. Model. Mech, vol.6, pp.40-47, 2013.

M. Bogliolo, B. Schuster, C. Stoepker, B. Derkunt, Y. Su et al., Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia, Am. J. Hum. Genet, vol.92, pp.800-806, 2013.

S. Inano, K. Sato, Y. Katsuki, W. Kobayashi, H. Tanaka et al., RFWD3-mediated ubiquitination promotes timely removal of both RPA and RAD51 from DNA damage sites to facilitate homologous recombination, Mol. Cell, vol.66, pp.622-634, 2017.

K. Knies, S. Inano, M. J. Ramirez, M. Ishiai, J. Surralles et al., Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia, J. Clin. Invest, vol.127, pp.3013-3027, 2017.

, , vol.21, 2019.

G. L. Moldovan and A. D. Andrea, How the fanconi anemia pathway guards the genome, Annu. Rev. Genet, vol.43, pp.223-249, 2009.

S. L. Sawyer, L. Tian, M. Kahkonen, J. Schwartzentruber, M. Kircher et al., Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype, Cancer Discov, vol.5, pp.135-142, 2015.

K. Kashiyama, Y. Nakazawa, D. T. Pilz, C. Guo, M. Shimada et al., Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia, Am. J. Hum. Genet, vol.92, pp.807-819, 2013.

A. Deans and S. West, DNA interstrand crosslink repair and cancer, Nat. Rev. Cancer, vol.11, pp.467-480, 2011.

A. Smogorzewska, S. Matsuoka, P. Vinciguerra, E. R. Mcdonald, K. E. Hurov et al., Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair, Cell, vol.129, pp.289-301, 2007.

H. Kim and A. Andrea, Regulation of DNA cross-link repair by the Fanconi anemia/BRCA pathway, Genes Dev, vol.26, pp.1393-1408, 2012.

C. S. Tremblay, F. F. Huang, O. Habi, C. C. Huard, C. Godin et al., HES1 is a novel interactor of the Fanconi anemia core complex, Blood, vol.112, pp.2062-2070, 2008.

S. Longerich, J. San-filippo, D. Liu, and P. Sung, FANCI binds branched DNA and is mono-ubiquitinated by UBE2T-FANCL, J. Biol. Chem, vol.284, pp.23182-23186, 2009.

P. Knipscheer, M. Räschle, A. Smogorzewska, M. Enoiu, T. V. Ho et al., The Fanconi anemia pathway promotes replication-dependent DNA interstrand cross-link repair, Science, vol.326, pp.1698-1701, 2009.

M. Ishiai, H. Kitao, A. Smogorzewska, J. Tomida, A. Kinomura et al., FANCI phosphorylation functions as a molecular switch to turn on the Fanconi anemia pathway, Nat. Struct. Mol. Biol, vol.15, pp.1138-1146, 2008.

J. Pauty, A. M. Couturier, A. Rodrigue, M. C. Caron, Y. Coulombe et al., Cancer-causing mutations in the tumor suppressor PALB2 reveal a novel cancer mechanism using a hidden nuclear export signal in the WD40 repeat motif, Nucleic Acids Res, vol.45, pp.2644-2657, 2017.

K. Parmar, A. D'andrea, and L. Niedernhofer, Mouse models of Fanconi anemia, Mutat. Res, vol.668, pp.133-140, 2009.

E. L. Dubois, M. Beliveau, and J. Y. Masson, Fanconi anemia animal models--how differences can teach us as much as similarities, 2016.

, Med. Sci, vol.32, pp.598-605

S. Houghtaling, C. Timmers, M. Noll, M. Finegold, S. Jones et al., Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice, Genes Dev, vol.17, pp.2021-2035, 2003.

F. Langevin, G. P. Crossan, I. V. Rosado, M. J. Arends, and K. J. Patel, Fancd2 counteracts the toxic effects of naturally produced aldehydes in mice, Nature, vol.475, pp.53-58, 2011.

J. I. Garaycoechea, G. P. Crossan, F. Langevin, M. Daly, M. J. Arends et al., Genotoxic consequences of endogenous aldehydes on mouse haematopoietic stem cell function, Nature, vol.489, pp.571-575, 2012.

S. L. Tan, S. Chadha, Y. Liu, E. Gabasova, D. Perera et al., A class of environmental and endogenous toxins induces BRCA2 haploinsufficiency and genome instability, Cell, vol.169, pp.1105-1118, 2017.

L. B. Pontel, I. V. Rosado, G. Burgos-barragan, J. I. Garaycoechea, R. Yu et al., Endogenous formaldehyde is a hematopoietic stem cell genotoxin and metabolic carcinogen, Mol. Cell, vol.60, pp.177-188, 2015.

K. Sato, M. Ishiai, K. Toda, S. Furukoshi, A. Osakabe et al., Histone chaperone activity of Fanconi anemia proteins, FANCD2 and FANCI, is required for DNA crosslink repair, EMBO J, vol.31, pp.3524-3536, 2012.

I. Chaudhury, A. Sareen, M. Raghunandan, and A. Sobeck, FANCD2 regulates BLM complex functions independently of FANCI to promote replication fork recovery, Nucleic Acids Res, vol.41, pp.6444-6459, 2013.

E. L. Thompson, J. E. Yeo, E. A. Lee, Y. Kan, M. Raghunandan et al., FANCI and FANCD2 have common as well as independent functions during the cellular replication stress response, Nucleic Acids Res, vol.45, pp.11837-11857, 2017.

S. B. Sondalle, S. Longerich, L. M. Ogawa, P. Sung, and S. J. Baserga, Fanconi anemia protein FANCI functions in ribosome biogenesis, vol.116, pp.2561-2570, 2019.

K. Parmar, J. Kim, S. M. Sykes, A. Shimamura, P. Stuckert et al., Hematopoietic stem cell defects in mice with deficiency of Fancd2 or Usp1, Stem Cells, vol.28, pp.1186-1195, 2010.

M. Castroviejo-bermejo, C. Cruz, A. Llop-guevara, S. Gutierrez-enriquez, M. Ducy et al., A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation, EMBO Mol. Med, vol.10, p.9172, 2018.

G. P. Crossan, L. Van-der-weyden, I. V. Rosado, F. Langevin, P. H. Gaillard et al., Disruption of mouse Slx4, a regulator of structure-specific nucleases, phenocopies Fanconi anemia, Nat. Genet, vol.43, pp.147-152, 2011.
URL : https://hal.archives-ouvertes.fr/hal-02397862

J. Page, R. De-la-fuente, M. Manterola, M. T. Parra, A. Viera et al., Inactivation or non-reactivation: what accounts better for the silence of sex chromosomes during mammalian male meiosis?, Chromosoma, vol.121, pp.307-326, 2012.

P. Baumann, F. E. Benson, N. Hajibagheri, and S. C. West, Purification of human Rad51 protein by selective spermidine precipitation, Mutat. Res, vol.384, pp.65-72, 1997.

J. Niraj, M. C. Caron, K. Drapeau, S. Berube, L. Guitton-sert et al., The identification of FANCD2 DNA binding domains reveals nuclear localization sequences, Nucleic Acids Res, vol.45, pp.8341-8357, 2017.

C. Roques, Y. Coulombe, M. Delannoy, J. Vignard, S. Grossi et al., MRE11-RAD50-NBS1 is a critical regulator of FANCD2 stability and function during DNA double-strand break repair, 2009.
URL : https://hal.archives-ouvertes.fr/hal-02662125

, EMBO J, vol.28, pp.2400-2413

R. Buisson, A. M. Dion-cote, Y. Coulombe, H. Launay, H. Cai et al., Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination, Nat. Struct. Mol. Biol, vol.17, pp.1247-1254, 2010.

U. Thorsteinsdottir, A. Mamo, E. Kroon, L. Jerome, J. Bijl et al., Overexpression of the myeloid leukemia-associated Hoxa9 gene in bone marrow cells induces stem cell expansion, Blood, vol.99, pp.121-129, 2002.

S. Navarro, N. W. Meza, O. Quintana-bustamante, J. A. Casado, A. Jacome et al., Hematopoietic dysfunction in a mouse model for Fanconi anemia group D1, Mol. Ther, vol.14, pp.525-535, 2006.

M. Carreau, O. I. Gan, L. Liu, M. Doedens, J. E. Dick et al., Hematopoietic compartment of Fanconi anemia group C null mice contains fewer lineage-negative CD34+ primitive hematopoietic cells and shows reduced reconstruction ability, Exp. Hematol, vol.27, pp.1667-1674, 1999.

L. Zhang, J. Tang, C. J. Haines, H. L. Feng, L. Lai et al., ) c-kit and its related genes in spermatogonial differentiation, Spermatogenesis, vol.1, pp.186-194, 2011.

M. Tarsounas, T. Morita, R. E. Pearlman, and P. B. Moens, RAD51 and DMC1 form mixed complexes associated with mouse meiotic chromosome cores and synaptonemal complexes, J. Cell Biol, vol.147, pp.207-219, 1999.

H. Joenje, F. Arwert, A. W. Eriksson, H. De-koning, and A. B. Oostra, Oxygen-dependence of chromosomal aberrations in Fanconi's anaemia, Nature, vol.290, pp.142-143, 1981.

M. Noll, K. P. Battaile, R. Bateman, T. P. Lax, K. Rathbun et al., Fanconi anemia group A and C double-mutant mice: functional evidence for a multi-protein Fanconi anemia complex, Exp. Hematol, vol.30, pp.679-688, 2002.

M. Carreau, Not-so-novel phenotypes in the Fanconi anemia group D2 mouse model. Blood, 103, 2430, vol.21, 2004.

J. M. Kim, K. Parmar, M. Huang, D. M. Weinstock, C. A. Ruit et al., Inactivation of murine Usp1 results in genomic instability and a Fanconi anemia phenotype, Dev. Cell, vol.16, pp.314-320, 2009.

J. Bourseguin, C. Bonet, E. Renaud, C. Pandiani, M. Boncompagni et al., FANCD2 functions as a critical factor downstream of MiTF to maintain the proliferation and survival of melanoma cells, Sci. Rep, vol.6, p.36539, 2016.
URL : https://hal.archives-ouvertes.fr/hal-02424498

M. Chen, D. J. Tomkins, W. Auerbach, C. Mckerlie, H. Youssoufian et al., Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia, Nat. Genet, vol.12, pp.448-451, 1996.

M. Koomen, N. C. Cheng, H. J. Van-de-vrugt, B. C. Godthelp, M. A. Van-der-valk et al., Reduced fertility and hypersensitivity to mitomycin C characterize Fancg/Xrcc9 null mice, Hum. Mol. Genet, vol.11, pp.273-281, 2002.

R. Abu-issa, G. Eichele, and H. Youssoufian, Expression of the Fanconi anemia group A gene (Fanca) during mouse embryogenesis, Blood, vol.94, pp.818-824, 1999.

F. Krasnoshtein and M. Buchwald, Developmental expression of the Fac gene correlates with congenital defects in Fanconi anemia patients, Hum. Mol. Genet, vol.5, pp.85-93, 1996.

B. P. Alter and P. S. Rosenberg, VACTERL-H association and fanconi anemia, Mol. Syndromol, vol.4, pp.87-93, 2013.

J. F. Armstrong, M. H. Kaufman, D. J. Harrison, and A. R. Clarke, High-frequency developmental abnormalities in p53-deficient mice, Curr. Biol, vol.5, pp.931-936, 1995.

K. D. Mills, D. A. Sinclair, and L. Guarente, MEC1-dependent redistribution of the Sir3 silencing protein from telomeres to DNA double-strand breaks, Cell, vol.97, pp.609-620, 1999.

K. G. Alavattam, Y. Kato, H. S. Sin, S. Maezawa, I. J. Kowalski et al., Elucidation of the fanconi anemia protein network in meiosis and its function in the regulation of histone modifications, Cell Rep, vol.17, pp.1141-1157, 2016.

K. Sato, M. Shimomuki, Y. Katsuki, D. Takahashi, W. Kobayashi et al., FANCI-FANCD2 stabilizes the RAD51-DNA complex by binding RAD51 and protects the 5 -DNA end, Nucleic Acids Res, vol.44, pp.10758-10771, 2016.

Q. Yang, H. Xie, Y. Zhong, D. Li, X. Ke et al., Severe fanconi anemia phenotypes in Fancd2 depletion mice, Biochem. Biophys. Res. Commun, vol.514, pp.713-719, 2019.

C. Charlier, J. S. Agerholm, W. Coppieters, P. Karlskov-mortensen, W. Li et al., A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina, PLoS One, vol.7, p.43085, 2012.

Q. S. Zhang, W. Tang, M. Deater, N. Phan, A. N. Marcogliese et al., Metformin improves defective hematopoiesis and delays tumor formation in Fanconi anemia mice, Blood, vol.128, pp.2774-2784, 2016.