. Yanez, et peuvent être source de stress réplicatif, 2005.

, Structure de l'ADN télomérique et d'un quadruplexe G. Références Bibliographiques, vol.17

H. A. Abbas, R. Daniela, S. Maccio, J. G. Coskun, A. L. Jackson et al., « Mdm2 Is Required for Survival of Hematopoietic Stem Cells/Progenitors via Dampening of ROS-Induced P53 Activity, Cell Stem Cell, vol.7, issue.5, pp.606-623, 2010.

V. Abramowski, O. Etienne, R. Elsaid, J. Yang, A. Berland et al., « PAXX and Xlf Interplay Revealed by Impaired CNS Development and Immunodeficiency of Double KO Mice, Cell Death and Differentiation, vol.25, issue.2, pp.444-52, 2018.

A. Ahmad, A. R. Robinson, A. Duensing, E. Van-drunen, H. B. Beverloo et al., « ERCC1-XPF Endonuclease Facilitates DNA Double-Strand Break Repair, Molecular and Cellular Biology, vol.28, issue.16, pp.5082-92, 2008.

J. Åhsberg, J. Ungerbäck, T. Strid, E. Welinder, and J. Stjernberg, Malin Larsson, Hong Qian, et Mikael Sigvardsson. 2013. « Early B-Cell Factor 1 Regulates the Expansion of B-Cell Progenitors in a Dose-Dependent Manner », Journal of Biological Chemistry, vol.288, p.61

K. M. Aird, ;. Et-rugang-zhang, L. Galluzzi, I. Vitale, O. Kepp et al., « Detection of Senescence-Associated Heterochromatin Foci (SAHF), Cell Senescence, édité, vol.965, pp.185-96, 2013.

G. Alsbeih, K. Al-hadyan, and . Et-najla-al-harbi, « Assessment of Carriers' Frequency of a Novel MRE11 Mutation Responsible for the Rare Ataxia Telangiectasia-Like Disorder », Genetic Testing, vol.12, issue.3, pp.387-89, 2008.

A. Alsultan, H. E. Shamseldin, M. E. Osman, M. Aljabri, and F. S. Alkuraya, « MYSM1 Is Mutated in a Family with Transient Transfusion-Dependent Anemia, Mild Thrombocytopenia, and Low NK-and B-Cell Counts, Blood, vol.122, issue.23, p.45, 2013.

B. P. Alter, N. Giri, S. A. Savage, and P. S. Rosenberg, « Cancer in Dyskeratosis Congenita, Telomere Length in Inherited Bone Marrow Failure Syndromes, vol.113, pp.49-54, 2009.

T. Altmann and A. R. Gennery, « DNA Ligase IV Syndrome; a Review, Orphanet Journal of Rare Diseases, vol.11, issue.1, 2016.

M. Altmeyer and J. Lukas, « To Spread or Not to Spread-Chromatin Modifications in Response to DNA Damage, Current Opinion in Genetics & Development, vol.23, issue.2, p.65, 2013.

M. Altmeyer, L. Toledo, T. Gudjonsson, M. Grøfte, M. Rask et al., « The Chromatin Scaffold Protein SAFB1 Renders Chromatin Permissive for DNA Damage Signaling », Molecular Cell, vol.52, issue.2, 2013.

N. Ameziane, P. May, A. Haitjema, H. J. Van-de, S. E. Vrugt et al., « A Novel Fanconi Anaemia Subtype Associated with a Dominant-Negative Mutation in RAD51 », Nature Communications, vol.6, issue.1, 2015.

R. Anand, L. Ranjha, E. Cannavo, P. Et, and . Cejka, « Phosphorylated CtIP Functions as a Co-Factor of the MRE11-RAD50-NBS1 Endonuclease in DNA End Resection, Molecular Cell, vol.64, issue.5, pp.940-50, 2016.

B. H. Anderson, R. Paul, J. Kasher, M. Mayer, E. M. Szynkiewicz et al., « Mutations in CTC1, Encoding Conserved Telomere Maintenance Component 1, Cause Coats Plus », Nature Genetics, vol.44, issue.3, pp.338-380, 2012.

A. Anttinen, L. Koulu, E. Nikoskelainen, R. Portin, T. Kurki et al., Neurological Symptoms and Natural Course of Xeroderma Pigmentosum, vol.131, p.89, 1979.

T. Aparicio, R. Baer, J. Et, and . Gautier, « DNA Double-Strand Break Repair Pathway Choice and Cancer », DNA Repair, vol.19, pp.169-75, 2014.

M. E. Arana, A. Et-thomas, and . Kunkel, « Mutator Phenotypes Due to DNA Replication Infidelity, Seminars in Cancer Biology, vol.20, issue.5, pp.304-315, 2010.

N. Arat, J. D. Özlem, and . Griffith, « Human Rap1 Interacts Directly with Telomeric DNA and Regulates TRF2 Localization at the Telomere », Journal of Biological Chemistry, vol.287, issue.50, pp.41583-94, 2012.

L. Aravind, M. Lakshminarayan, and . Iyer, The SWIRM Domain: A Conserved Module Found in Chromosomal Proteins Points to Novel Chromatin-Modifying Activities, p.7

M. Armanios and E. H. Blackburn, The Telomere Syndromes, vol.13, pp.693-704, 2012.

M. Y. Armanios, J. Julian, J. D. Chen, J. K. Cogan, R. G. Alder et al., Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis, vol.356, pp.1317-1343, 2007.

N. Arnoult, A. Van-beneden, A. Et, and . Decottignies, Telomere Length Regulates TERRA Levels through Increased Trimethylation of Telomeric H3K9 and HP1?, vol.19, pp.948-56, 2012.

R. Arora, Y. Lee, H. Wischnewski, C. M. Brun, T. Schwarz et al., « RNaseH1 Regulates TERRA-Telomeric DNA Hybrids and Telomere Maintenance in ALT Tumour Cells », Nature Communications, vol.5, issue.1, 2014.

R. Arya and C. H. Bassing, « V(D)J Recombination Exploits DNA Damage Responses to Promote Immunity », Trends in Genetics, vol.33, issue.7, pp.479-89, 2017.

T. Asai, Y. Liu, N. Bae, S. D. Et, and . Nimer, « The P53 Tumor Suppressor Protein Regulates Hematopoietic Stem Cell Fate », Journal of Cellular Physiology, vol.226, issue.9, pp.2215-2236, 2011.

J. Atkinson, K. Harvey, D. Domingo, M. Trujillo, J. Guadagnini et al., Tc Hart, et Bp Alter. 2008. « Oral and Dental Phenotype of Dyskeratosis Congenita », Oral Diseases, vol.14, issue.5, pp.419-446

G. Aubert and P. M. Lansdorp, Telomeres and Aging, vol.88, pp.557-79, 2008.

M. Audebert, B. Salles, P. Et, and . Calsou, « Involvement of Poly(ADP-Ribose) Polymerase-1 and XRCC1/DNA Ligase III in an Alternative Route for DNA Double-Strand Breaks Rejoining, Journal of Biological Chemistry, vol.279, issue.53, pp.55117-55143, 2004.

C. M. Azzalin, P. Reichenbach, L. Khoriauli, E. Giulotto, and J. Lingner, Telomeric Repeat Containing RNA and RNA Surveillance Factors at Mammalian Chromosome Ends, Science, vol.318, issue.5851, pp.798-801, 2007.

S. Baez, B. Couto, E. Herrera, Y. Bocanegra, N. Trujillo-orrego et al., Facundo Manes, Agustin Ibanez, et Andres Villegas. 2013. « Tracking the Cognitive, Social, and Neuroanatomical Profile in Early Neurodegeneration: Type III Cockayne Syndrome, vol.5

E. Bahrami, M. Witzel, T. Racek, J. Pucha?ka, S. Hollizeck et al., « Myb-like, SWIRM, and MPN Domains 1 (MYSM1) Deficiency: Genotoxic Stress-Associated Bone Marrow Failure and Developmental Aberrations, Journal of Allergy and Clinical Immunology, vol.140, issue.4, pp.1112-1131, 2017.

C. J. Bakkenist, M. B. Et, and . Kastan, « DNA Damage Activates ATM through Intermolecular Autophosphorylation and Dimer Dissociation », Nature, vol.421, issue.6922, pp.499-506, 2003.

B. Balk, M. Dees, K. Bender, B. Et, and . Luke, « The Differential Processing of Telomeres in Response to Increased Telomeric Transcription and RNA-DNA Hybrid Accumulation, RNA Biology, vol.11, issue.2, pp.95-100, 2014.

A. Barascu, C. L. Chalony, G. Pennarun, D. Genet, N. Zaarour et al., « Oxydative Stress Alters Nuclear Shape through Lamins Dysregulation: A Route to Senescence, Nucleus, vol.3, issue.5, pp.411-428, 2012.

L. J. Barber, J. L. Youds, J. D. Ward, M. J. Mcilwraith, N. J. O'neil et al., « RTEL1 Maintains Genomic Stability by Suppressing Homologous Recombination, Cell, vol.135, issue.2, pp.261-71, 2008.

D. E. Barnes, G. Stamp, and I. Rosewell, Angela Denzel, et Tomas Lindahl. 1998. « Targeted Disruption of the Gene Encoding DNA Ligase IV Leads to Lethality in Embryonic Mice, Current Biology, vol.8, issue.25, pp.21-30

J. Bartek, J. Et, and . Lukas, « Chk1 and Chk2 Kinases in Checkpoint Control and Cancer », Cancer Cell, vol.3, issue.5, pp.110-117, 2003.

L. F. Batista, « Telomere Biology in Stem Cells and Reprogramming ». In Progress in Molecular Biology and Translational Science, vol.125, pp.67-88, 2014.

J. A. Baur, « Telomere Position Effect in Human Cells, Science, vol.292, pp.2075-77, 2001.

. Bebenek, L. C. Katarzyna, T. A. Pedersen, and . Kunkel, « Structure-Function Studies of DNA Polymerase ?, Biochemistry, vol.53, issue.17, pp.2781-92, 2014.

. Bekker-jensen, C. Simon, R. Lukas, F. Kitagawa, M. B. Melander et al., « Spatial Organization of the Mammalian Genome Surveillance Machinery in Response to DNA Strand Breaks, The Journal of Cell Biology, vol.173, issue.2, pp.195-206, 2006.

. Bell, V. K. Oliver, N. H. Tiwari, D. Thomä, and . Schübeler, « Determinants and Dynamics of Genome Accessibility », Nature Reviews Genetics, vol.12, issue.8, pp.554-64, 2011.

J. I. Belle, D. Langlais, J. C. Petrov, M. Pardo, R. G. Jones et al., « P53 Mediates Loss of Hematopoietic Stem Cell Function and Lymphopenia in Mysm1 Deficiency, Blood, vol.125, issue.15, pp.2344-2392, 2015.

J. Belle, J. Petrov, D. Langlais, . Robert, . Cencic et al., « Repression of P53-Target Gene Bbc3/PUMA by MYSM1 Is Essential for the Survival of Hematopoietic Multipotent Progenitors and Contributes to Stem Cell Maintenance, Cell Death & Differentiation, vol.23, issue.5, pp.759-75, 2016.

R. Benetti, M. García-cao, E. María, and A. Blasco, « Telomere Length Regulates the Epigenetic Status of Mammalian Telomeres and Subtelomeres », Nature Genetics, vol.39, issue.2, pp.243-50, 2007.

S. Benitz, I. Regel, T. Reinhard, A. Popp, I. Schäffer et al., « Polycomb Repressor Complex 1 Promotes Gene Silencing through H2AK119 Mono-Ubiquitination in Acinar-to-Ductal Metaplasia and Pancreatic Cancer Cells, Oncotarget, vol.7, issue.10, 2016.


N. Bennardo, A. Cheng, N. Huang, J. M. Et, and . Stark, « Alternative-NHEJ Is a Mechanistically Distinct Pathway of Mammalian Chromosome Break Repair, James E. Haber. PLoS Genetics, vol.4, issue.6, p.1000110, 2008.

J. W. Bennett and M. Klich, « Mycotoxins ». Clinical Microbiology Reviews, vol.16, issue.3, pp.497-516, 2003.

A. Bernadotte, V. M. Mikhelson, and I. M. Spivak, Telomere Shortening as a Marker of Cellular Senescence, Aging, vol.8, issue.1, p.11, 2016.

M. Berti and A. Vindigni, « Replication Stress: Getting Back on Track, Nature Structural & Molecular Biology, vol.23, issue.2, pp.103-112, 2016.

A. T. Bertrand, K. Chikhaoui, R. Ben-yaou, G. Et, and . Bonne, Clinical and Genetic Heterogeneity in Laminopathies, vol.39, pp.1687-92, 2011.

M. Bétermier, P. Bertrand, and B. S. Lopez, « Is Non-Homologous End-Joining Really an Inherently Error-Prone Process? » Édité par Sue Jinks-Robertson, PLoS Genetics, vol.10, issue.1, p.1004086, 2014.

K. Bieging-rolett, T. Johnson, C. Brady, V. Beaudry, N. Pathak et al., « P19Arf Is Required for the Cellular Response to Chronic DNA Damage, Oncogene, vol.35, issue.33, pp.4414-4435, 2016.

. Bisht, E. M. Kamlesh, V. M. Smith, . Tesmer, J. Et et al., « Structural and Functional Consequences of a Disease Mutation in the Telomere Protein TPP1, Proceedings of the National Academy of Sciences, vol.113, issue.46, pp.13021-13047, 2016.

S. Biton, A. Barzilai, Y. Et, and . Shiloh, « The Neurological Phenotype of Ataxia-Telangiectasia: Solving a Persistent Puzzle, DNA Repair, vol.7, issue.7, pp.1028-1066, 2008.

E. H. Blackburn, Telomeres and Telomerase: Their Mechanisms of Action and the Effects of Altering Their Functions, FEBS Letters, vol.579, issue.4, pp.859-62, 2005.

E. H. Blackburn, C. W. Greider, E. Jack, and W. Szostak, « Telomeres and Telomerase: The Path from Maize, Tetrahymena and Yeast to Human Cancer and Aging », Nature Medicine, vol.12, issue.10, pp.1133-1171, 2006.

C. Blanpain, M. Mohrin, P. A. Sotiropoulou, E. Et, and . Passegué, « DNA-Damage Response in Tissue-Specific and Cancer Stem Cells, Cell Stem Cell, vol.8, issue.1, pp.16-29, 2011.

M. A. Blasco, « The Epigenetic Regulation of Mammalian Telomeres », Nature Reviews Genetics, vol.8, issue.4, pp.299-309, 2007.

N. Bocquet, A. H. Bizard, W. Abdulrahman, B. Nicolai, M. Larsen et al., « Structural and Mechanistic Insight into Holliday-Junction Dissolution by Topoisomerase III? and RMI1 », Nature Structural & Molecular Biology, vol.21, issue.3, pp.261-68, 2014.

D. M. Boesten, M. J. Joyce, L. De-vos-houben, . Timmermans, J. M. Gertjan et al., « Accelerated Aging during Chronic Oxidative Stress: A Role for PARP-1 », Oxidative Medicine and Cellular Longevity, issue.1, p.10, 2013.

A. D. Bolzán, « Interstitial Telomeric Sequences in Vertebrate Chromosomes: Origin, Function, Instability and Evolution, Mutation Research/Reviews in Mutation Research, vol.773, pp.51-65, 2017.

R. Borie, L. Tabèze, G. Thabut, H. Nunes, V. Cottin et al., « Prevalence and Characteristics of TERT and TERC Mutations in Suspected Genetic Pulmonary Fibrosis, European Respiratory Journal, vol.48, issue.6, pp.1721-1752, 2016.

M. Botuyan, J. Victoria, I. M. Lee, J. Ward, J. R. Kim et al., « Structural Basis for the Methylation State-Specific Recognition of Histone H4-K20 by 53BP1 and Crb2 in DNA Repair, Cell, vol.127, issue.7, pp.1361-73, 2006.

L. A. Boyer, R. Michael, K. A. Langer, S. Crowley, J. M. Tan et al., « Essential Role for the SANT Domain in the Functioning of Multiple Chromatin Remodeling Enzymes », Molecular Cell, vol.10, issue.4, pp.935-977, 2002.

P. T. Bradford, A. M. Goldstein, D. Tamura, S. G. Khan, T. Ueda et al., « Cancer and Neurologic Degeneration in Xeroderma Pigmentosum: Long Term Follow-up Characterises the Role of DNA Repair », Journal of Medical Genetics, vol.48, issue.3, pp.168-76, 2011.

S. Bregenhorn, L. Kallenberger, M. Artola-borán, J. Peña-diaz, J. Et et al., « Non-Canonical Uracil Processing in DNA Gives Rise to Double-Strand Breaks and Deletions: Relevance to Class Switch Recombination, Nucleic Acids Research, vol.44, issue.6, 2016.

B. P. Brooks, H. Amy, J. A. Thompson, C. Clayton, D. Chan et al., Ocular Manifestations of Trichothiodystrophy, vol.118, pp.2335-2377, 2011.

I. Brouwer, T. Moschetti, A. Candelli, B. Edwige, M. Garcin et al., « Two Distinct Conformational States Define the Interaction of Human RAD51 ATP with Single stranded DNA, The EMBO Journal, vol.37, issue.7, p.98162, 2018.

T. M. Bryan, A. Englezou, J. Gupta, S. Et, and . Bacchetti, Telomere Elongation in Immortal Human Cells without Detectable Telomerase Activity, p.9

D. Buck, L. Malivert, A. Régina-de-chasseval, M. Barraud, O. Fondanèche et al., Cernunnos, a Novel Nonhomologous End-Joining Factor, Is Mutated in Human Immunodeficiency with Microcephaly, vol.124, pp.287-99, 2006.

R. J. Buckland, D. L. Watt, B. Chittoor, A. K. Nilsson, and T. A. Kunkel, et Andrei Chabes. 2014. « Increased and Imbalanced DNTP Pools Symmetrically Promote Both Leading and Lagging Strand Replication Infidelity, vol.10, p.1004846

D. V. Bugreev, J. Roberto, O. M. Pezza, O. N. Mazina, . Voloshin et al., « The Resistance of DMC1 D-Loops to Dissociation May Account for the DMC1 Requirement in Meiosis », Nature Structural & Molecular Biology, vol.18, issue.1, p.60, 2011.

R. Buisson, A. Dion-côté, Y. Coulombe, H. Launay, H. Cai et al., « Cooperation of Breast Cancer Proteins PALB2 and Piccolo BRCA2 in Stimulating Homologous Recombination », Nature Structural & Molecular Biology, vol.17, issue.10, pp.1247-54, 2010.

R. Burla, M. La-torre, and I. Saggio, Mammalian Telomeres and Their Partnership with Lamins, vol.7, pp.187-202, 2016.

C. M. Buseman, W. E. Wright, and J. W. Shay, Is Telomerase a Viable Target in Cancer? » Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, vol.730, pp.90-97, 2012.

. Cadet, J. R. Jean, and . Wagner, « Oxidatively Generated Base Damage to Cellular DNA by Hydroxyl Radical and One-Electron Oxidants: Similarities and Differences, Archives of Biochemistry and Biophysics, vol.557, pp.47-54, 2014.

E. I. Campos, D. Et, and . Reinberg, Histones: Annotating Chromatin, vol.43, pp.559-99, 2009.

J. Camps, T. Michael-r-erdos, and . Ried, « The Role of Lamin B1 for the Maintenance of Nuclear Structure and Function, Nucleus, vol.6, issue.1, p.14, 2015.

. Cao, C. D. Kan, D. A. Blair, J. E. Faddah, M. Kieckhaefer et al., Progerin and Telomere Dysfunction Collaborate to Trigger Cellular Senescence in Normal Human Fibroblasts », Journal of Clinical Investigation, vol.121, issue.7, pp.2833-2877, 2011.

N. Catalan, F. Selz, K. Imai, P. Revy, A. Fischer et al., « The Block in Immunoglobulin Class Switch Recombination Caused by Activation-Induced Cytidine Deaminase Deficiency Occurs Prior to the Generation of DNA Double Strand Breaks in Switch Region, The Journal of Immunology, vol.171, issue.5, pp.2504-2513, 2003.

R. M. Cawthon, K. R. Smith, E. Brien, A. Sivatchenko, A. Et-richard et al., « Association between Telomere Length in Blood and Mortality in People Aged 60 Years or Older, The Lancet, vol.361, issue.9355, pp.12384-12391, 2003.

B. Chai, « Distinct Roles for the RSC and Swi/Snf ATP-Dependent Chromatin Remodelers in DNA Double-Strand Break Repair, Genes & Development, vol.19, issue.14, pp.1656-61, 2005.

A. L. Chambers, J. A. Et, and . Downs, The RSC and INO80 Chromatin-Remodeling Complexes in DNA Double-Strand Break Repair, Progress in Molecular Biology and Translational Science, vol.110, pp.229-61, 2012.

H. H. Chang, R. Nicholas, N. Pannunzio, . Adachi, M. R. Et et al., « Non-Homologous DNA End Joining and Alternative Pathways to Double-Strand Break Repair », Nature Reviews Molecular Cell Biology, vol.18, issue.8, pp.495-506, 2017.

N. Chatterjee and G. C. Walker, « Mechanisms of DNA Damage, Repair, and Mutagenesis: DNA Damage and Repair, Environmental and Molecular Mutagenesis, vol.58, issue.5, pp.235-63, 2017.

H. Chen, M. Lisby, L. S. Et, and . Symington, « RPA Coordinates DNA End Resection and Prevents Formation of DNA Hairpins », Molecular Cell, vol.50, issue.4, p.600, 2013.

L. Chen, Y. Zhang, Q. Zhang, H. Li, Z. Luo et al., « Mitochondrial Localization of Telomeric Protein TIN2 Links Telomere Regulation to Metabolic Control », Molecular Cell, vol.47, issue.6, p.50, 2012.

. Chen, C. M. Lu, A. Roake, P. J. Freund, S. Batista et al., « An Activity Switch in Human Telomerase Based on RNA Conformation and Shaped by TCAB1 », Cell, vol.174, issue.1, pp.218-230, 2018.

L. Chen, D. Liu, and Z. Songyang, « Telomere Maintenance through Spatial Control of Telomeric Proteins, Molecular and Cellular Biology, vol.27, issue.16, pp.5898-5909, 2007.

S. Chen, J. L. Hartman, S. Plank, J. D. Willcox, T. Griffith et al., « Top3? Is Required during the Convergent Migration Step of Double Holliday Junction Dissolution ». Édité par Claudine Mayer, PLoS ONE, vol.9, issue.1, p.83582, 2014.

I. Chiolo, A. Minoda, U. Serafin, A. Colmenares, . Polyzos et al., Double-Strand Breaks in Heterochromatin Move Outside of a Dynamic HP1a Domain to Complete Recombinational Repair, Cell, vol.144, issue.5, pp.732-776, 2011.

K. K. Chiruvella, Z. Liang, and T. E. Wilson, Repair of Double-Strand Breaks by End Joining, vol.5, pp.12757-012757, 2013.

K. H. Choi, A. S. Farrell, A. S. Lakamp, and M. M. Ouellette, « Characterization of the DNA Binding Specificity of Shelterin Complexes, Nucleic Acids Research, vol.39, issue.21, pp.9206-9229, 2011.

D. M. Chou, B. Adamson, N. E. Dephoure, X. Tan, A. C. Nottke et al., « A Chromatin Localization Screen Reveals Poly (ADP Ribose)-Regulated Recruitment of the Repressive Polycomb and NuRD Complexes to Sites of DNA Damage, Proceedings of the National Academy of Sciences, vol.107, issue.43, pp.18475-80, 2010.

H. Chu, C. Cifuentes-rojas, B. Kesner, E. Aeby, H. Lee et al., « TERRA RNA Antagonizes ATRX and Protects Telomeres ». Cell, vol.170, issue.1, pp.86-101, 2017.

H. Chu, J. E. Froberg, B. Kesner, H. J. Oh, F. Ji et al., PAR-TERRA Directs Homologous Sex Chromosome Pairing, vol.24, p.31, 2017.

H. H. Chun, A. Et-richard, and . Gatti, « Ataxia-Telangiectasia, an Evolving Phenotype », DNA Repair, vol.3, issue.9, pp.1187-96, 2004.

A. Ciccia, J. Stephen, and . Elledge, « The DNA Damage Response: Making It Safe to Play with Knives », Molecular Cell, vol.40, issue.2, pp.179-204, 2010.

K. A. Cimprich, D. Et, and . Cortez, « ATR: An Essential Regulator of Genome Integrity », Nature Reviews Molecular Cell Biology, vol.9, issue.8, pp.616-643, 2008.

M. J. Clague, I. Barsukov, J. M. Coulson, H. Liu, D. J. Rigden et al., « Deubiquitylases From Genes to Organism », Physiological Reviews, vol.93, issue.3, pp.1289-1315, 2013.

C. R. Clapier, B. R. Et, and . Cairns, The Biology of Chromatin Remodeling Complexes, vol.78, pp.273-304, 2009.

C. Clauson, O. D. Scharer, and L. Niedernhofer, « Advances in Understanding the Complex Mechanisms of DNA Interstrand Cross-Link Repair, Cold Spring Harbor Perspectives in Biology, vol.5, issue.10, pp.12732-012732, 2013.

J. E. Cleaver, « Opinion: Cancer in Xeroderma Pigmentosum and Related Disorders of DNA Repair », Nature Reviews Cancer, vol.5, issue.7, p.73, 2005.

V. Cloud, Y. Chan, J. Grubb, B. Budke, and D. K. Bishop, « Rad51 Is an Accessory Factor for Dmc1-Mediated Joint Molecule Formation During Meiosis, Science, vol.337, issue.6099, pp.1222-1247, 2012.

D. Clynes, C. Jelinska, B. Xella, H. Ayyub, C. Scott et al., « Suppression of the Alternative Lengthening of Telomere Pathway by the Chromatin Remodelling Factor ATRX », Nature Communications, vol.6, issue.1, 2015.

S. B. Cohen, M. E. Graham, G. O. Lovrecz, N. Bache, P. J. Robinson et al., « Protein Composition of Catalytically Active Human Telomerase from Immortal Cells, Science, vol.315, issue.5820, pp.1850-53, 2007.

K. A. Coleman, R. A. Et, and . Greenberg, « The BRCA1-RAP80 Complex Regulates DNA Repair Mechanism Utilization by Restricting End Resection », Journal of Biological Chemistry, vol.286, issue.15, pp.13669-80, 2011.

S. A. Compton, . Gökhan-tolun, S. Ashwini, L. A. Kamath-loeb, J. D. Loeb et al., « The Werner Syndrome Protein Binds Replication Fork and Holliday Junction DNAs as an Oligomer », Journal of Biological Chemistry, vol.283, issue.36, pp.24478-83, 2008.

E. M. Cooper, J. D. Boeke, E. Robert, and . Cohen, « Specificity of the BRISC Deubiquitinating Enzyme Is Not Due to Selective Binding to Lys 63 -Linked Polyubiquitin », Journal of Biological Chemistry, vol.285, issue.14, pp.10344-52, 2010.

E. M. Cortizas, A. Zahn, M. E. Hajjar, A. Patenaude, J. M. Di-noia et al., Alternative End-Joining and Classical Nonhomologous End-Joining Pathways Repair Different Types of Double-Strand Breaks during Class-Switch Recombination, vol.191, pp.5751-63, 2013.

P. J. Crutzen, And Biogeochemical Cycles, vol.250, p.11, 1990.

E. Cusanelli, C. Romero, and P. Chartrand, Telomeric Noncoding RNA TERRA Is Induced by Telomere Shortening to Nucleate Telomerase Molecules at Short Telomeres », Molecular Cell, vol.51, issue.6, pp.780-91, 2013.

G. Da, J. Lenkart, K. Zhao, R. Shiekhattar, R. Bradley et al., et Ronen Marmorstein. s. d. « Structure and Function of the SWIRM Domain, a Conserved Protein Module Found in Chromatin Regulatory Complexes, p.6

J. M. Daley, Y. Kwon, and H. Niu, et Patrick Sung. s. d. « Investigations of Homologous Recombination Pathways and Their Regulation, p.9

J. A. Daniel, M. Pellegrini, B. Lee, Z. Guo, D. Filsuf et al., Loss of ATM Kinase Activity Leads to Embryonic Lethality in Mice, vol.198, pp.295-304, 2012.

N. P. Dantuma and H. Van-attikum, « Spatiotemporal Regulation of Posttranslational Modifications in the DNA Damage Response, The EMBO Journal, vol.35, issue.1, p.23, 2016.

A. Das, D. A. Grotsky, A. Martin, R. Neumann, I. Kreienkamp et al., « Lamin A ?exon9 Mutation Leads to Telomere and Chromatin Defects but, Not Genomic Instability ». Nucleus, vol.4, issue.5, pp.410-429, 2013.

R. J. Davies, « Ultraviolet Radiation Damage in DNA, Biochemical Society Transactions, vol.23, issue.2, pp.407-425, 1995.

T. Davoli and . Titia-de-lange, « Telomere-Driven Tetraploidization Occurs in Human Cells Undergoing Crisis and Promotes Transformation of Mouse Cells », Cancer Cell, vol.21, issue.6, pp.765-76, 2012.

T. Davoli, E. Lazzerini-denchi, and . Et-titia-de-lange, « Persistent Telomere Damage Induces Bypass of Mitosis and Tetraploidy, 2010b. « Persistent Telomere Damage Induces Bypass of Mitosis and Tetraploidy, vol.141, pp.81-93, 2010.

A. J. Deans, S. C. Et, and . West, « DNA Interstrand Crosslink Repair and Cancer », Nature Reviews Cancer, vol.11, issue.7, p.80, 2011.

A. Decottignies, « Microhomology-Mediated End Joining in Fission Yeast Is Repressed by Pku70 and Relies on Genes Involved in Homologous Recombination, Genetics, vol.176, issue.3, pp.1403-1418, 2007.

K. I. Deeg, I. Chung, C. Bauer, and . Et-karsten-rippe, « Cancer Cells with Alternative Lengthening of Telomeres Do Not Display a General Hypersensitivity to ATR Inhibition », Frontiers in Oncology, vol.6, 2016.

B. Demple and . Harrison, DNA: Enzymology and Biology, p.34

E. Denchi, . Lazzerini, and . Et-titia-de-lange, « Protection of Telomeres through Independent Control of ATM and ATR by TRF2 and POT1 », Nature, vol.448, issue.7157, pp.1068-71, 2007.

S. K. Deng, B. Gibb, M. Justino-de-almeida, E. C. Greene, S. Et-lorraine et al., « RPA Antagonizes Microhomology-Mediated Repair of DNA Double-Strand Breaks », Nature Structural & Molecular Biology, vol.21, issue.4, pp.405-417, 2014.

. Deng, A. E. Zhong, . Campbell, M. Paul, and . Lieberman, « TERRA, CpG Methylation, and Telomere Heterochromatin: Lessons from ICF Syndrome Cells », vol.9, pp.69-74, 2010.

Z. Deng, J. Norseen, A. Wiedmer, H. Riethman, P. M. Et et al., « TERRA RNA Binding to TRF2 Facilitates Heterochromatin Formation and ORC Recruitment at Telomeres », Molecular Cell, vol.35, issue.4, pp.403-416, 2009.

R. M. Densham, A. J. Garvin, H. R. Stone, J. Strachan, A. Robert et al., « Human BRCA1-BARD1 Ubiquitin Ligase Activity Counteracts Chromatin Barriers to DNA Resection », Nature Structural & Molecular Biology, vol.23, issue.7, pp.647-55, 2016.

C. Depienne, D. Bouteiller, A. Méneret, S. Billot, S. Groppa et al., « RAD51 Haploinsufficiency Causes Congenital Mirror Movements in Humans, The American Journal of Human Genetics, vol.90, issue.2, pp.301-308, 2012.

R. A. Deshpande, J. Lee, S. Arora, T. T. Et, and . Paull, « Nbs1 Converts the Human Mre11/Rad50 Nuclease Complex into an Endo/Exonuclease Machine Specific for Protein-DNA Adducts », Molecular Cell, vol.64, issue.3, pp.593-606, 2016.

J. M. Dewar, D. Et, and . Lydall, Uncapped" Telomeres and DNA Double-Strand Breaks, Similarities and Differences between, vol.121, p.30, 2012.

G. L. Dianov, U. Et, ;. Hübscher, J. J. Digiovanna, K. H. Et et al., « Mammalian Base Excision Repair: The Forgotten Archangel, Shining a Light on Xeroderma Pigmentosum, vol.41, pp.785-96, 2012.

M. Digweed and K. Sperling, « Nijmegen Breakage Syndrome: Clinical Manifestation of Defective Response to DNA Double-Strand Breaks », DNA Repair, vol.3, issue.8, pp.1207-1224, 2004.

A. Diman and A. Decottignies, « Genomic Origin and Nuclear Localization of TERRA Telomeric Repeat-Containing RNA: From Darkness to Dawn, The FEBS Journal, vol.285, issue.8, pp.1389-98, 2018.

G. P. Dimri, X. Lee, G. Basile, M. Acosta, G. Scott et al., « A Biomarker That Identifies Senescent Human Cells in Culture and in Aging Skin in Vivo, Proceedings of the National Academy of Sciences, vol.92, pp.9363-67, 1920.

M. Dinkelmann, E. Spehalski, T. Stoneham, J. Buis, Y. Wu et al., Multiple Functions of MRN in End-Joining Pathways during Isotype Class Switching, vol.16, pp.808-821, 2009.

G. E. Dodson, Y. Shi, R. S. Et, and . Tibbetts, « DNA Replication Defects, Spontaneous DNA Damage, and ATM-Dependent Checkpoint Activation in Replication Protein A-Deficient Cells », Journal of Biological Chemistry, vol.279, issue.32, pp.34010-34024, 2004.

C. Doil, N. Mailand, S. Bekker-jensen, P. Menard, D. H. Larsen et al., « RNF168 Binds and Amplifies Ubiquitin Conjugates on Damaged Chromosomes to Allow Accumulation of Repair Proteins, Cell, vol.136, issue.3, pp.435-481, 2009.

. Doksani, J. Y. Ylli, . Wu, . Titia-de-lange, X. Et et al., Super-Resolution Fluorescence Imaging of Telomeres Reveals TRF2-Dependent T-Loop Formation, vol.155, pp.345-56, 2013.

L. A. Donehower, « Insights into Wild-Type and Mutant P53 Functions Provided by Genetically Engineered Mice », Human Mutation, vol.35, issue.6, pp.715-742, 2014.

Y. Dong, M. Hakimi, X. Chen, E. Kumaraswamy, S. Neil et al., « Regulation of BRCC, a Holoenzyme Complex Containing BRCA1 and BRCA2, by a Signalosome-like Subunit and Its Role in DNA Repair », Molecular Cell, vol.12, issue.5, pp.424-430, 2003.

B. Dorado and V. Andrés, A-Type Lamins and Cardiovascular Disease in Premature Aging Syndromes, Current Opinion in Cell Biology, vol.46, p.25, 2017.

I. Draskovic, N. Arnoult, V. Steiner, S. Bacchetti, P. Lomonte et al., Probing PML Body Function in ALT Cells Reveals Spatiotemporal Requirements for, 2009.

, Telomere Recombination ». Proceedings of the National Academy of Sciences, vol.106, issue.37, pp.15726-15757

O. Dreesen, A. Chojnowski, P. F. Ong, T. Y. Zhao, J. E. Common et al., Lamin B1 Fluctuations Have Differential Effects on Cellular Proliferation and Senescence, vol.200, pp.605-622, 2013.

M. Dumble, L. Moore, S. M. Chambers, H. Geiger, G. Van-zant et al., The Impact of Altered P53 Dosage on Hematopoietic Stem Cell Dynamics during Aging, vol.109, pp.1736-1778, 2007.

L. C. Dumitrache, P. J. Et, and . Mckinnon, « Polynucleotide Kinase-Phosphatase (PNKP) Mutations and Neurologic Disease, Mechanisms of Ageing and Development, vol.161, pp.121-150, 2017.

A. Ebert, L. Hill, M. Et, and . Busslinger, « Spatial Regulation of V-(D)J Recombination at Antigen Receptor Loci, Advances in Immunology, vol.128, pp.93-121, 2015.

G. Ecco, M. Imbeault, D. Et, and . Trono, « KRAB Zinc Finger Proteins ». Development, vol.144, issue.15, pp.2719-2748, 2017.

E. D. Egan, K. Et, and . Collins, « Specificity and Stoichiometry of Subunit Interactions in the Human Telomerase Holoenzyme Assembled In Vivo, Molecular and Cellular Biology, vol.30, issue.11, pp.2775-86, 2010.

A. L. Eggler, B. Ross, M. M. Inman, and . Cox, « The Rad51-Dependent Pairing of Long DNA Substrates Is Stabilized by Replication Protein A », Journal of Biological Chemistry, vol.277, issue.42, pp.39280-88, 2002.

A. Elson, Y. Wang, C. J. Daugherty, C. C. Morton, F. Zhou et al., Pleiotropic Defects in Ataxia-Telangiectasia Protein-Deficient Mice, vol.93, pp.13084-89, 1996.

R. Enomoto, T. Kinebuchi, M. Sato, and H. Yagi, Hitoshi Kurumizaka, et Shigeyuki Yokoyama. 2006. « Stimulation of DNA Strand Exchange by the Human TBPIP/Hop2-Mnd1 Complex », Journal of Biological Chemistry, vol.281, issue.9, pp.5575-81

J. A. Epstein, D. N. Shapiro, J. Cheng, P. Y. Lam, and R. L. Maas, « Pax3 Modulates Expression of the C-Met Receptor during Limb Muscle Development, » Proceedings of the National Academy of Sciences, vol.93, issue.9, pp.4213-4231, 1996.

C. Ericsson, I. L. Goldknopf, and B. Daneholt, « Inhibition of Transcription Does Not Affect the Total Amount of Ubiquitinated Histone 2A in Chromatin, Experimental Cell Research, vol.167, issue.1, pp.90210-90217, 1986.

M. Eriksson, W. T. Brown, L. B. Gordon, M. W. Glynn, J. Singer et al., « Recurrent de Novo Point Mutations in Lamin A Cause Hutchinson-Gilford Progeria Syndrome », Nature, vol.423, pp.293-98, 2003.

S. Eustermann, W. Wu, M. Langelier, J. Yang, L. E. Easton et al., « Structural Basis of Detection and Signaling of DNA Single-Strand Breaks by Human PARP-1 », Molecular Cell, vol.60, issue.5, pp.742-54, 2015.

S. Faghri, K. Tamura, . Kraemer, and . Digiovanna, « Trichothiodystrophy: A Systematic Review of 112 Published Cases Characterises a Wide Spectrum of Clinical Manifestations », Journal of Medical Genetics, vol.45, issue.10, pp.609-630, 2008.

V. L. Fell, C. Et, and . Schild-poulter, The Ku Heterodimer: Function in DNA Repair and Beyond, vol.763, pp.15-29, 2015.

M. Fernet, M. Gribaa, A. M. Mustafa, and . Salih, Mohamed Zein Seidahmed, Janet Hall, et Michel Koenig. 2005. « Identification and Functional Consequences of a Novel MRE11 Mutation Affecting 10 Saudi Arabian Patients with the Ataxia Telangiectasia-like Disorder, vol.14, pp.307-325

J. Finley, « Alteration of Splice Site Selection in the LMNA Gene and Inhibition of Progerin Production via AMPK Activation », Medical Hypotheses, vol.83, issue.5, pp.580-87, 2014.

A. Flaus and T. Owen-hughes, « Mechanisms for ATP-Dependent Chromatin Remodelling: Farewell to the Tuna-Can Octamer?, Current Opinion in Genetics & Development, vol.14, issue.2, pp.165-73, 2004.

R. L. Flynn, K. E. Cox, M. Jeitany, H. Wakimoto, A. R. Bryll et al., Alternative Lengthening of Telomeres Renders Cancer Cells Hypersensitive to ATR Inhibitors, vol.347, pp.273-77, 2015.

G. A. Fontana, J. K. Reinert, N. H. Thomä, and U. Rass, Shepherding DNA Ends: Rif1 Protects Telomeres and Chromosome Breaks ». Microbial Cell, vol.5, pp.327-370, 2018.

. Förster, R. K. Michael, J. C. Boora, N. Petrov, I. Fodil et al., et Anastasia Nijnik. 2017. « A Role for the Histone H2A Deubiquitinase MYSM1 in Maintenance of CD8 + T Cells, vol.151, pp.110-131

. Fradet-turcotte, M. D. Amélie, C. Canny, A. Escribano-díaz, . Orthwein et al., « 53BP1 Is a Reader of the DNA-Damage-Induced H2A Lys 15 Ubiquitin Mark », Nature, vol.499, issue.7456, pp.50-54, 2013.

L. Frappier, « Contributions of Epstein-Barr Nuclear Antigen 1 (EBNA1) to Cell Immortalization and Survival, Viruses, vol.4, issue.9, pp.1537-1584, 2012.

D. Frescas, T. Et, and . De-lange, « TRF2-Tethered TIN2 Can Mediate Telomere Protection by TPP1/POT1 », Molecular and Cellular Biology, vol.34, issue.7, pp.1349-62, 2014.

M. Fumagalli, F. Rossiello, C. Mondello, and . Et-fabrizio-d'adda-di-fagagna, « Stable Cellular Senescence Is Associated with Persistent DDR Activation, Marcu. PLoS ONE, vol.9, issue.10, p.110969, 2014.

A. Galati, E. Micheli, S. Et, and . Cacchione, « Chromatin Structure in Telomere Dynamics ». Frontiers in Oncology, vol.3, 2013.

B. Gao, Y. Li, J. Wei, . Zhang, . Li et al., « Zinc Finger Protein 637 Protects Cells against Oxidative Stress-Induced Premature Senescence by MTERT-Mediated Telomerase Activity and Telomere Maintenance, Cell Death & Disease, vol.5, issue.7, pp.1334-1334, 2014.

Z. Gao, J. Zhang, R. Bonasio, F. Strino, A. Sawai et al., et Danny Reinberg. 2012. « PCGF Homologs, CBX Proteins, and RYBP Define Functionally Distinct PRC1 Family Complexes, vol.45, pp.344-56

J. I. Garaycoechea and K. J. Patel, « Why Does the Bone Marrow Fail in Fanconi Anemia?, Blood, vol.123, issue.1, pp.26-34, 2014.

M. Gatzka, . Tasdogan, G. Hainzl, . Allies, C. Maity et al., Interplay of H2A Deubiquitinase 2A-DUB/Mysm1 and the P19ARF/P53, 2015.

, Axis in Hematopoiesis, Early T-Cell Development and Tissue Differentiation, vol.22, pp.1451-62

C. M. Gedik, A. Et, and . Collins, « Establishing the Background Level of Base Oxidation in Human Lymphocyte DNA: Results of an Interlaboratory Validation Study, The FASEB Journal, vol.19, issue.1, pp.82-84, 2005.

A. Gerelchuluun, E. Manabe, T. Ishikawa, L. Sun, K. Itoh et al., « The Major DNA Repair Pathway after Both Proton and Carbon-Ion Radiation Is NHEJ, but the HR Pathway Is More Relevant in Carbon Ions », Radiation Research, vol.183, issue.3, pp.345-56, 2015.

F. Giacco, M. Et, and . Brownlee, « Oxidative Stress and Diabetic Complications », Circulation Research, vol.107, issue.9, pp.1058-70, 2010.

V. Ginjala, K. Nacerddine, A. Kulkarni, J. Oza, S. J. Hill et al., « BMI1 Is Recruited to DNA Breaks and Contributes to DNA Damage-Induced H2A Ubiquitination and Repair, Molecular and Cellular Biology, vol.31, issue.10, p.82, 1972.

G. Glousker, F. Touzot, P. Revy, Y. Tzfati, S. A. Et et al., « Unraveling the Pathogenesis of Hoyeraal-Hreidarsson Syndrome, Complex Telomere Biology Disorder ». British Journal of Haematology, vol.170, issue.4, pp.457-71, 2015.

R. D. Goldman, D. K. Shumaker, M. R. Erdos, M. Eriksson, A. E. Goldman et al., « Accumulation of Mutant Lamin A Causes Progressive Changes in Nuclear Architecture in Hutchinson-Gilford Progeria Syndrome, Proceedings of the National Academy of Sciences, vol.101, issue.24, pp.16874-79, 2004.

M. Goldstein, M. B. Et, and . Kastan, « Repair versus Checkpoint Functions of BRCA1 Are Differentially Regulated by Site of Chromatin Binding », Cancer Research, vol.75, issue.13, pp.2699-2707, 2015.

. Gong, L. Fade, B. Chiu, F. Cox, T. Aymard et al., Screen Identifies Bromodomain Protein ZMYND8 in Chromatin Recognition of Transcription-Associated DNA Damage That Promotes Homologous Recombination, vol.29, 2015.

A. A. Goodarzi, T. Kurka, A. Et-penelope, and . Jeggo, « KAP-1 Phosphorylation Regulates CHD3 Nucleosome Remodeling during the DNA Double-Strand Break Response », Nature Structural & Molecular Biology, vol.18, issue.7, pp.831-870, 2011.

A. A. Goodarzi, A. T. Noon, D. Deckbar, Y. Ziv, Y. Shiloh et al., « ATM Signaling Facilitates Repair of DNA Double-Strand Breaks Associated with Heterochromatin », 2008b. « ATM Signaling Facilitates Repair of DNA Double-Strand Breaks Associated with Heterochromatin, vol.31, pp.167-77, 2008.

T. J. Grahame, B. Et-richard, and . Schlesinger, « Oxidative Stress-Induced Telomeric Erosion as a Mechanism Underlying Airborne Particulate Matter-Related Cardiovascular Disease, Particle and Fibre Toxicology, vol.9, issue.1, p.21, 2012.

F. Grasso and T. Frisan, « Bacterial Genotoxins: Merging the DNA Damage Response into, Infection Biology ». Biomolecules, vol.5, issue.3, pp.1762-82, 2015.

S. Gravel, J. R. Chapman, C. Magill, and S. P. Jackson, « DNA Helicases Sgs1 and BLM Promote DNA Double-Strand Break Resection, Genes & Development, vol.22, issue.20, pp.2767-72, 2008.

M. M. Greenberg, « In Vitro and in Vivo Effects of Oxidative Damage to Deoxyguanosine, Biochemical Society Transactions, vol.32, issue.1, p.50, 2004.

J. J. Gregory, J. E. Wagner, P. C. Verlander, O. Levran, S. D. Batish et al., « Somatic Mosaicism in Fanconi Anemia: Evidence of Genotypic Reversion in Lymphohematopoietic Stem Cells, Proceedings of the National Academy of Sciences, vol.98, issue.5, pp.2532-2569, 2001.

C. W. Greider, E. H. Et, and . Blackburn, « Identification of a Specific Telomere Terminal Transferase Activity in Tetrahymena Extracts, Cell, vol.43, issue.2, pp.90170-90179, 1985.

J. D. Griffith, L. Comeau, S. Rosenfield, R. M. Stansel, A. Bianchi et al., Mammalian Telomeres End in a Large Duplex Loop, vol.97, pp.80760-80766, 1999.

J. Grillari, H. Katinger, and R. Voglauer, « Contributions of DNA Interstrand Cross-Links to Aging of Cells and Organisms, Nucleic Acids Research, vol.35, issue.22, pp.7566-76, 2007.

M. Grompe, « Fanconi Anemia and DNA Repair », Human Molecular Genetics, vol.10, pp.2253-59, 1920.

M. Gross, H. Hanenberg, S. Lobitz, R. Friedl, S. Herterich et al., Reverse Mosaicism in Fanconi Anemia: Natural Gene Therapy via Molecular Self-Correction, vol.98, pp.126-161, 2002.

Y. Gruenbaum, O. Et, and . Medalia, Lamins: The Structure and Protein Complexes, vol.32, p.12, 2015.

P. Gu, J. Min, Y. Wang, C. Huang, T. Peng et al.,

, Leading to Catastrophic Telomere Loss and Stem Cell Exhaustion: CTC1 Deletion Results in Defective Telomere Replication, « CTC1 Deletion Results in Defective Telomere Replication, vol.31, pp.2309-2330

T. Gudjonsson, M. Altmeyer, V. Savic, L. Toledo, C. Dinant et al., « TRIP12 and UBR5 Suppress Spreading of Chromatin Ubiquitylation at Damaged Chromosomes, Cell, vol.150, issue.4, pp.697-709, 2012.

A. Guleria, S. Et, and . Chandna, « ATM Kinase: Much More than a DNA Damage Responsive Protein », DNA Repair, vol.39, issue.mars, 2016.

S. Guo, Y. Zhang, F. Yuan, Y. Gao, L. Gu et al., « Regulation of Replication Protein A Functions in DNA Mismatch Repair by Phosphorylation », Journal of Biological Chemistry, vol.281, issue.31, pp.21607-21623, 2006.

Y. Guo, M. Kartawinata, J. Li, H. A. Pickett, J. Teo et al., « Inherited Bone Marrow Failure Associated with Germline Mutation of ACD, the Gene Encoding Telomere Protein TPP1, Blood, vol.124, issue.18, pp.2767-74, 2014.

M. P. Gupta, K. E. Talcott, D. Y. Kim, S. Agarwal, S. Et et al., « Retinal Findings and a Novel TINF2 Mutation in Revesz Syndrome: Clinical and Molecular Correlations with Pediatric Retinal Vasculopathies », Ophthalmic Genetics, vol.38, issue.1, pp.51-60, 2017.

M. Haffner-luntzer, A. Kovtun, V. Fischer, K. Prystaz, A. Hainzl et al., Loss of P53 Compensates Osteopenia in Murine Mysm1 Deficiency, vol.32, p.68, 1957.

A. D. Hafstad, A. Adam, A. M. Nabeebaccus, and . Shah, « Novel Aspects of ROS Signalling in Heart Failure, Basic Research in Cardiology, vol.108, issue.4, 2013.


R. Hakem, « DNA-Damage Repair; the Good, the Bad, and the Ugly, The EMBO Journal, vol.27, issue.4, p.605, 2008.

H. Han, N. Tan, G. Zeng, J. Fan, H. Huang et al., « Natural Inhibitors of DNA Topoisomerase I with Cytotoxicities », Chemistry & Biodiversity, vol.5, issue.7, pp.1364-68, 2008.

K. Hanada, I. D. Et, and . Hickson, « Molecular Genetics of RecQ Helicase Disorders, Cellular and Molecular Life Sciences, vol.64, issue.17, pp.2306-2328, 2007.

S. M. Harding, J. A. Boiarsky, and R. A. Greenberg, « ATM Dependent Silencing Links Nucleolar Chromatin Reorganization to DNA Damage Recognition », Cell Reports, vol.13, issue.2, pp.251-59, 2015.

D. C. Hargreaves and E. Gerald-r-crabtree, ATP-Dependent Chromatin Remodeling: Genetics, Genomics and Mechanisms ». Cell Research, vol.21, issue.3, 2011.

J. Harper, S. J. Wade, and . Elledge, « The DNA Damage Response: Ten Years After », Molecular Cell, vol.28, issue.5, pp.739-784, 2007.

M. H. Hauer, S. M. Et, and . Gasser, « Chromatin and Nucleosome Dynamics in DNA Damage and Repair, Genes & Development, vol.31, issue.22, pp.2204-2225, 2017.

M. Hayashi, S. Araki, J. Kohyama, K. Shioda, R. Et et al., « Oxidative Nucleotide Damage and Superoxide Dismutase Expression in the Brains of Xeroderma Pigmentosum Group A and Cockayne Syndrome, Brain and Development, vol.27, issue.1, pp.34-38, 2005.

P. C. Haycock, E. E. Heydon, S. Kaptoge, A. S. Butterworth, A. Thompson et al., « Leucocyte Telomere Length and Risk of Cardiovascular Disease: Systematic Review and Meta-Analysis, BMJ, vol.349, issue.3, pp.4227-4227, 2014.

H. He, Y. Wang, X. Guo, S. Ramchandani, J. Ma et al., « Pot1b Deletion and Telomerase Haploinsufficiency in Mice Initiate an ATR-Dependent DNA Damage Response and Elicit Phenotypes Resembling Dyskeratosis Congenita, Molecular and Cellular Biology, vol.29, issue.1, pp.229-269, 2009.

J. T. Heeres and . Hergenrother, « Poly(ADP-Ribose) Makes a Date with Death, Current Opinion in Chemical Biology, vol.11, issue.6, pp.644-53, 2007.

B. Heidenreich, K. Sivaramakrishna-rachakonda, . Hemminki, R. Et, and . Kumar, « TERT Promoter Mutations in Cancer Development, Current Opinion in Genetics & Development, vol.24, 2014.

E. S. Henle, S. Et, and . Linn, « Formation, Prevention, and Repair of DNA Damage by Iron/Hydrogen Peroxide », Journal of Biological Chemistry, vol.272, issue.31, 1997.

N. L. Hepowit, S. Uthandi, H. V. Miranda, M. Toniutti, L. Prunetti et al., Archaeal JAB1/MPN/MOV34 Metalloenzyme (HvJAMM1) Cleaves Ubiquitin-like Small Archaeal Modifier Proteins (SAMPs) from Protein-Conjugates: Archaeal JAMM Isopeptidase, vol.86, pp.971-87, 2012.

G. Hewitt, D. Jurk, D. M. Francisco, C. Marques, T. Correia-melo et al., « Telomeres Are Favoured Targets of a Persistent DNA Damage Response in Ageing and Stress-Induced Senescence », Nature Communications, vol.3, issue.1, 2012.


W. Heyer, « Regulation of Recombination and Genomic Maintenance, Cold Spring Harbor Perspectives in Biology, vol.7, issue.8, p.16501, 2015.

T. Ho, A. Vinh, S. Guainazzi, M. Burak-derkunt, . Enoiu et al., « Structure-Dependent Bypass of DNA Interstrand Crosslinks by Translesion Synthesis Polymerases, Nucleic Acids Research, vol.39, issue.17, pp.7455-64, 2011.

T. Hochstrasser, J. Marksteiner, C. Et, and . Humpel, « Telomere Length Is Age-Dependent and Reduced in Monocytes of Alzheimer Patients », Experimental Gerontology, vol.47, issue.2, pp.160-63, 2012.

D. Hockemeyer, W. Palm, T. Else, J. Daniels, K. Kaori et al., « Telomere Protection by Mammalian Pot1 Requires Interaction with Tpp1 », Nature Structural & Molecular Biology, vol.14, issue.8, p.61, 2007.

D. Hockemeyer, J. W. Sfeir, . Shay, E. Woodring, . Wright et al., « POT1 Protects Telomeres from a Transient DNA Damage Response and Determines How Human Chromosomes End, The EMBO Journal, vol.24, issue.14, pp.2667-78, 2005.

J. H. Hoeijmakers, « From Xeroderma Pigmentosum to the Biological Clock Contributions of Dirk Bootsma to Human Genetics, Mutation Research/DNA Repair, vol.485, issue.1, pp.79-82, 2001.

, « DNA Damage, Aging, and Cancer », New England Journal of Medicine, vol.361, issue.15, pp.1475-85, 2009.

K. Holde, . Van, J. Et, and . Zlatanova, « Chromatin Fiber Structure: Where Is the Problem Now?, Seminars in Cell & Developmental Biology, vol.18, issue.5, pp.651-58, 2007.

. Holohan, W. E. Brody, J. W. Wright, and . Shay, Telomeropathies: An Emerging Spectrum Disorder, vol.205, pp.289-99, 2014.

C. Horigome, Y. Oma, T. Konishi, R. Schmid, I. Marcomini et al., « SWR1 and INO80 Chromatin Remodelers Contribute to DNA Double-Strand Break Perinuclear Anchorage Site Choice », Molecular Cell, vol.55, issue.4, pp.626-665, 2014.

G. T. Horst, L. Van-der, . Meira, G. M. Theo, J. Gorgels et al., « UVB Radiation-Induced Cancer Predisposition in Cockayne Syndrome Group A (Csa) Mutant Mice », DNA Repair, vol.1, issue.2, pp.10-16, 2002.

G. T. Horst, H. Van-der, R. J. Van-steeg, A. J. Berg, J. Van-gool et al., « Defective Transcription-Coupled Repair in Cockayne Syndrome B Mice Is Associated with Skin Cancer Predisposition, Cell, vol.89, issue.3, pp.425-460, 1997.

S. M. Howard, A. Diana, J. M. Yanez, and . Stark, « DNA Damage Response Factors from Diverse Pathways, Including DNA Crosslink Repair, Mediate Alternative End Joining ». Édité par Nancy Maizels, PLOS Genetics, vol.11, issue.1, p.1004943, 2015.

N. G. Howlett, « Biallelic Inactivation of BRCA2 in Fanconi Anemia, Science, vol.297, issue.5581, pp.606-615, 2002.

M. Hoxha, L. Dioni, M. Bonzini, A. C. Pesatori, S. Fustinoni et al., « Association between Leukocyte Telomere Shortening and Exposure to Traffic Pollution: A Cross-Sectional Study on Traffic Officers and Indoor Office Workers », Environmental Health, vol.8, issue.1, 2009.

H. M. Høyeraal, J. Lamvik, P. Et, ;. Moe, and . Brothers-», Acta Paediatrica, vol.59, issue.2, pp.185-91, 1970.

S. Hreidarsson, K. Kristjansson, G. Johannesson, and J. H. Johannsson, A Syndrome of Progressive Pancytopenia with Microcephaly, Cerebellar Hypoplasia and Growth Failure, 1988.

, Acta Paediatrica, vol.77, issue.5, pp.773-75

J. Hroudová, N. Singh, Z. Et, and . Fi?ar, « Mitochondrial Dysfunctions in Neurodegenerative Diseases: Relevance to Alzheimer's Disease », BioMed Research International, vol.1, issue.9, 2014.

Y. Hu, R. Scully, B. Sobhian, A. Xie, E. Shestakova et al., « RAP80-Directed Tuning of BRCA1 Homologous Recombination Function at Ionizing Radiation-Induced Nuclear Foci, Genes & Development, vol.25, issue.7, pp.685-700, 2011.

S. Huang, R. A. Risques, G. M. Martin, P. S. Rabinovitch, and J. Oshima, « Accelerated Telomere Shortening and Replicative Senescence in Human Fibroblasts Overexpressing Mutant and Wild-Type Lamin A », Experimental Cell Research, vol.314, issue.1, pp.82-91, 2008.

X. Huang, G. Nandakumar, . Tumurkhuu, . Wang, . Hong et al., « Mysm1 Is Required for Interferon Regulatory Factor Expression in Maintaining HSC Quiescence and Thymocyte Development, Cell Death & Disease, vol.7, issue.6, 2016.

M. S. Huen, M. H. Shirley, . Sy, and . Et-junjie-chen, « BRCA1 and Its Toolbox for the Maintenance of Genome Integrity », Nature Reviews Molecular Cell Biology, vol.11, issue.2, pp.138-186, 2010.

G. W. Humphrey, Y. Wang, R. Valya, T. Russanova, J. Hirai et al., « Stable Histone Deacetylase Complexes Distinguished by the Presence of SANT Domain Proteins CoREST/Kiaa0071 and Mta-L1 », Journal of Biological Chemistry, vol.276, issue.9, pp.6817-6841, 2001.

Y. Huo, B. Li, Z. Lin, W. Wang, X. Jiang et al., « MYSM1 Is Essential for Maintaining Hematopoietic Stem Cell (HSC) Quiescence and Survival », Medical Science Monitor, vol.24, pp.2541-2590, 2018.

K. Imai, G. Slupphaug, -. Wen, P. Lee, S. Revy et al., « Human Uracil-DNA Glycosylase Deficiency Associated with Profoundly Impaired Immunoglobulin Class-Switch Recombination », Nature Immunology, vol.4, issue.10, pp.1023-1051, 2003.

I. H. Ismail, R. Davidson, J. Gagne, Z. Z. Xu, G. G. Poirier et al., « Germline Mutations in BAP1 Impair Its Function in DNA Double-Strand Break Repair », Cancer Research, vol.74, issue.16, pp.4282-94, 2014.

T. Iyama and D. M. Wilson, « DNA Repair Mechanisms in Dividing and Non-Dividing Cells », DNA Repair, vol.12, issue.8, pp.620-656, 2013.

I. J. Jackson, . Jackson, P. Stephen, J. Et, and . Bartek, Molecular and Developmental Genetics of Mouse Coat Color », 29, Nature, vol.461, issue.7267, pp.1071-78, 2009.

S. P. Jackson, D. Et, and . Durocher, « Regulation of DNA Damage Responses by Ubiquitin and SUMO », Molecular Cell, vol.49, issue.5, pp.795-807, 2013.

C. Jacquemont, T. Et, and . Taniguchi, The Fanconi Anemia Pathway and Ubiquitin, vol.8, 2007.

K. Jacquet, A. Fradet-turcotte, N. Avvakumov, J. Lambert, C. Roques et al., « The TIP60 Complex Regulates Bivalent Chromatin Recognition by 53BP1 through Direct H4K20me Binding and H2AK15 Acetylation », Molecular Cell, vol.62, issue.3, pp.409-430, 2016.

A. Jahn, G. Rane, S. Maciej-paszkowski-rogacz, A. Sayols, C. T. Bluhm et al., « ZBTB48 Is Both a Vertebrate Telomere binding Protein and a Transcriptional Activator », EMBO Reports, vol.18, issue.6, pp.929-975, 2017.

E. Janou?ková, I. Ne?asová, J. Pavlou?ková, M. Zimmermann, M. Hluchý et al., Monika Nováková, et Ctirad Hofr. 2015. « Human Rap1 Modulates TRF2 Attraction to Telomeric DNA, vol.43, 26912700.

J. R. Jeffers, E. Parganas, Y. Lee, C. Yang, J. Wang et al., « Puma Is an Essential Mediator of P53-Dependent and -Independent Apoptotic Pathways, Cancer Cell, vol.4, issue.4, pp.244-251, 2003.

P. A. Jeggo, J. A. Et, and . Downs, « Roles of Chromatin Remodellers in DNA Double Strand Break Repair, Experimental Cell Research, vol.329, issue.1, pp.69-77, 2014.

D. Jeppesen, V. A. Kjølhede, . Bohr, T. Et, and . Stevnsner, « DNA Repair Deficiency in Neurodegeneration », Progress in Neurobiology, vol.94, issue.2, pp.166-200, 2011.

B. Jiang, J. N. Mark-glover, and M. Weinfeld, « Neurological Disorders Associated with DNA Strand-Break Processing Enzymes, Mechanisms of Ageing and Development, vol.161, 2017.

X. Jiang, Q. Nguyen, Y. Chou, T. Wang, V. Nandakumar et al., Control of B Cell Development by the Histone H2A, 2011.

. Deubiquitinase, Immunity, vol.35, issue.6, pp.883-96

J. Jiricny, « The Multifaceted Mismatch-Repair System », Nature Reviews Molecular Cell Biology, vol.7, issue.5, pp.335-381, 2006.

. Joo, L. Heui-yun, C. Zhai, S. Yang, H. Nie et al., « Regulation of Cell Cycle Progression and Gene Expression by H2A Deubiquitination », Nature, vol.449, issue.7165, pp.1068-72, 2007.

M. D. Kaeser, A. Aslanian, M. Dong, J. R. Yates, and B. M. Emerson, « BRD7, a Novel PBAF-Specific SWI/SNF Subunit, Is Required for Target Gene Activation and Repression in Embryonic Stem Cells », Journal of Biological Chemistry, vol.283, issue.47, pp.32254-63, 2008.

A. Kakarougkas, J. A. Downs, A. Penny, and . Jeggo, « The PBAF Chromatin Remodeling Complex Represses Transcription and Promotes Rapid Repair at DNA Double-Strand Breaks, Molecular & Cellular Oncology, vol.2, issue.1, p.970072, 2015.

A. Kakarougkas, A. Ismail, A. L. Chambers, E. Riballo, A. D. Herbert et al., « Requirement for PBAF in Transcriptional Repression and Repair at DNA Breaks in Actively Transcribed Regions of Chromatin », Molecular Cell, vol.55, issue.5, p.32, 2014.

U. Kalathiya, M. Padariya, M. Et, and . Baginski, « Molecular Basis and Quantitative Assessment of TRF1 and TRF2 Protein Interactions with TIN2 and Apollo Peptides, European Biophysics Journal, vol.46, issue.2, pp.171-87, 2017.

R. Kalb, D. L. Mallery, C. Larkin, T. J. Jeffrey, K. Huang et al., « BRCA1 Is a Histone-H2A-Specific Ubiquitin Ligase », Cell Reports, vol.8, issue.4, pp.999-1005, 2014.

C. Kannengiesser, R. Borie, C. Ménard, M. Réocreux, P. Nitschké et al., Heterozygous RTEL1 Mutations Are Associated with Familial Pulmonary Fibrosis, vol.46, p.85, 2015.
URL : https://hal.archives-ouvertes.fr/hal-01214563

O. L. Kantidze, A. Velichko, A. V-luzhin, and . Razin, , p.4

J. Karlseder, K. Hoke, O. K. Mirzoeva, C. Bakkenist, B. Michael et al., « The Telomeric Protein TRF2 Binds the ATM Kinase and Can Inhibit the ATM-Dependent DNA Damage Response ». Édité par Steve Elledge, PLoS Biology, vol.2, issue.8, p.240, 2004.

T. Kawamoto, K. Araki, E. Sonoda, Y. M. Yamashita, K. Harada et al., « Dual Roles for DNA Polymerase ? in Homologous DNA Recombination and Translesion DNA Synthesis », Molecular Cell, vol.20, issue.5, pp.793-99, 2005.

S. Keeney, N. Et, and . Kleckner, « Covalent Protein-DNA Complexes at the 5' Strand Termini of Meiosis-Specific Double-Strand Breaks in Yeast, Proceedings of the National Academy of Sciences, vol.92, issue.24, pp.11274-78, 1995.

S. Keeney, « Spo11 and the Formation of DNA Double-Strand Breaks in Meiosis, Recombination and Meiosis, édité par Richard Egel et Dirk-Henner Lankenau, vol.2, pp.81-123, 2008.

R. B. Keller, K. E. Gagne, G. N. Usmani, G. K. Asdourian, D. A. Williams et al., et Suneet Agarwal. 2012. « CTC1 Mutations in a Patient with Dyskeratosis Congenita, vol.59, pp.311-325

T. Kent, G. Chandramouly, S. M. Mcdevitt, A. Y. Ozdemir, E. Richard et al., Mechanism of Microhomology-Mediated End-Joining Promoted by Human DNA Polymerase ?, vol.22, pp.230-267, 2015.

M. P. Killoran, J. L. Et, and . Keck, Sit down, Relax and Unwind: Structural Insights into RecQ Helicase Mechanisms, vol.34, p.4105, 2006.

H. Kim and A. D. Et, « Regulation of DNA Cross-Link Repair by the Fanconi Anemia/BRCA Pathway, Genes & Development, vol.26, issue.13, pp.1393-1408, 2012.

J. Kim, K. Kim, V. Punj, G. Liang, T. S. Ulmer et al., et Woojin An. 2015. « Linker Histone H1.2 Establishes Chromatin Compaction and Gene Silencing through Recognition of H3K27me3, vol.5

J. Kim, J. T. Soo, W. Heale, X. Zeng, T. B. Kong et al., « In Situ Analysis of DNA Damage Response and Repair Using Laser Microirradiation, Methods in Cell Biology, vol.82, pp.377-407, 2007.

J. Kim, M. Hyun, R. Grosbart, C. Anand, P. Wyman et al., « The Mre11-Nbs1 Interface Is Essential for Viability and Tumor Suppression », Cell Reports, vol.18, issue.2, pp.496-507, 2017.

N. Kim, M. Piatyszek, K. Prowse, C. Harley, M. West et al., Specific Association of Human Telomerase Activity with Immortal Cells and Cancer, vol.266, p.15, 1994.

S. Kim, C. Beausejour, A. R. Davalos, P. Kaminker, S. Heo et al., TIN2 Mediates Functions of TRF2 at Human Telomeres, vol.279, pp.43799-804, 2004.

. Kim, A. T. Wanil, J. Ludlow, J. D. Min, G. Robin et al., « Regulation of the Human Telomerase Gene TERT by Telomere Position Effect-Over Long Distances (TPE-OLD): Implications for Aging and Cancer ». Édité par Daniel Durocher, PLOS Biology, vol.14, issue.12, p.2000016, 2016.

A. Kinner, W. Wu, C. Staudt, and G. Iliakis, « -H2AX in Recognition and Signaling of DNA Double-Strand Breaks in the Context of Chromatin, Nucleic Acids Research, vol.36, issue.17, pp.5678-94, 2008.

M. Kirwan, « Dyskeratosis Congenita: A Genetic Disorder of Many Faces », Clinical Genetics, vol.73, issue.2, pp.103-115, 2007.

W. J. Kleijer, V. Laugel, M. Berneburg, T. Nardo, H. Fawcett et al., « Incidence of DNA Repair Deficiency Disorders in Western Europe: Xeroderma Pigmentosum, Cockayne Syndrome and Trichothiodystrophy », DNA Repair, vol.7, issue.5, p.50, 2008.

A. Klug, « The Discovery of Zinc Fingers and Their Development for Practical Applications in Gene Regulation and Genome Manipulation, Quarterly Reviews of Biophysics, vol.43, issue.01, pp.1-21, 2010.

A. R. Klug, B. Michael, R. S. Harbut, I. G. Lloyd, and . Minko, « Replication Bypass of N 2 -Deoxyguanosine Interstrand Cross-Links by Human DNA Polymerases ? and ? », Chemical Research in Toxicology, vol.25, issue.3, pp.755-62, 2012.

P. Knipscheer, M. Raschle, A. Smogorzewska, M. Enoiu, T. V. Ho et al., « The Fanconi Anemia Pathway Promotes Replication-Dependent DNA Interstrand Cross-Link Repair, Science, vol.326, issue.5960, pp.1698-1701, 2009.

. Kocak, B. J. Hande, K. Ballew, R. Bisht, . Eggebeen et al., « Hoyeraal-Hreidarsson Syndrome Caused by a Germline Mutation in the TEL Patch of the Telomere Protein TPP1, Genes & Development, vol.28, 2014.

M. Kohli and T. J. Jorgensen, « The Influence of SV40 Immortalization of Human Fibroblasts on P53-Dependent Radiation Responses, Biochemical and Biophysical Research Communications, vol.257, issue.1, pp.168-76, 1999.

N. K. Kolas, J. R. Chapman, S. Nakada, J. Ylanko, R. Chahwan et al., « Orchestration of the DNA-Damage Response by the RNF8 Ubiquitin Ligase, Science, vol.318, issue.5856, pp.1637-1677, 2007.

S. C. Kowalczykowski, « An Overview of the Molecular Mechanisms of Recombinational DNA Repair, Cold Spring Harbor Perspectives in Biology, vol.7, issue.11, p.16410, 2015.

. Kraakman-van-der-zwet, W. J. Maria, A. A. Overkamp, B. Friedl, . Klein et al., « Immortalization and Characterization of Nijmegen Breakage Syndrome Fibroblasts, Mutation Research/DNA Repair, vol.434, issue.1, pp.17-27, 1999.

K. H. Kraemer, N. J. Patronas, R. Schiffmann, B. P. Brooks, D. Tamura et al., « Xeroderma Pigmentosum, Trichothiodystrophy and Cockayne Syndrome: A Complex Genotype-Phenotype Relationship, Neuroscience, vol.145, issue.4, pp.1388-96, 2007.

K. H. Kraemer, D. Tamura, S. G. Khan, and J. J. Digiovanna, « Burning Issues in the Diagnosis of Xeroderma Pigmentosum, British Journal of Dermatology, vol.169, issue.6, pp.1176-1176, 2013.

L. Krejci, M. V.-altmannova, X. Spirek, and . Zhao, « Homologous Recombination and Its Regulation, Nucleic Acids Research, vol.40, issue.13, pp.5795-5818, 2012.

H. E. Krokan and M. Bjoras, « Base Excision Repair, ): a012583 a012583, vol.5, 2013.

M. J. Kruhlak, A. Celeste, G. Dellaire, O. Fernandez-capetillo, W. G. Müller et al., et André Nussenzweig. 2006. « Changes in Chromatin Structure and Mobility in Living Cells at Sites of DNA Double-Strand Breaks, vol.172, pp.823-857

J. Kubic, E. C-little, J. Lui, T. Iizuka, and . Lang, « PAX3 and ETS1 Synergistically Activate MET Expression in Melanoma Cells, Oncogene, vol.34, issue.38, pp.4964-74, 2015.

D. Kumar, A. L. Abdulovic, J. Viberg, A. K. Nilsson, T. A. Kunkel et al., Mechanisms of Mutagenesis in Vivo Due to Imbalanced DNTP Pools, vol.39, pp.1360-71, 2011.

T. A. Kunkel, « Evolving Views of DNA Replication (In)Fidelity », Cold Spring Harbor Symposia on Quantitative Biology, vol.74, issue.0, pp.91-101, 2009.

T. A. Kunkel, D. A. Et, and . Erie, Annual Review of Biochemistry, vol.74, issue.1, pp.681-710, 2005.

. Kusumoto-matsuo, P. L. Rika, D. Opresko, H. Ramsden, . Tahara et al., « Cooperation of DNA-PKcs and WRN Helicase in the Maintenance of Telomeric D-Loops », Aging, vol.2, issue.5, pp.274-84, 2010.

B. G. Lambrus, Y. Uetake, K. M. Clutario, V. Daggubati, M. Snyder et al., P53 Protects against Genome Instability Following Centriole Duplication Failure, vol.210, pp.63-77, 2015.

L. Lan, S. Nakajima, Y. Oohata, M. Takao, S. Okano et al., Situ Analysis of Repair Processes for Oxidative DNA Damage in Mammalian Cells, vol.101, pp.13738-13781, 2004.

. Lancini, . Cesare, C. M. Paul, . Van-den, . Berk et al., « Tight Regulation of Ubiquitin-Mediated DNA Damage Response by USP3 Preserves the Functional Integrity of Hematopoietic Stem Cells, The Journal of Experimental Medicine, vol.211, issue.9, pp.1759-77, 2014.

J. E. Landers, S. L. Cassel, and . George, « Translational Enhancement of Mdm2 Oncogene Expression in Human Tumor Cells Containing a Stabilized Wild-Type P53 Protein

T. D. Lange, Shelterin: The Protein Complex That Shapes and Safeguards Human Telomeres, vol.19, 2005.

T. Lange, L. De, R. Shiue, D. Myers, S. Cox et al., « Structure and Variability of Human Chromosome Ends, » Molecular and Cellular Biology, vol.10, issue.2, p.27, 1990.

V. Laugel, « Cockayne Syndrome: The Expanding Clinical and Mutational Spectrum, Mechanisms of Ageing and Development, vol.134, issue.5, pp.161-70, 2013.

L. Guen, L. Tangui, M. Jullien, A. Schertzer, L. Lefebvre et al., « RTEL1, une hélicase de l'ADN essentielle à la stabilité du génome ». médecine/sciences, vol.29, pp.1138-1182, 2013.

L. Guen, F. Tangui, I. Touzot, C. André-schmutz, B. Lagresle-peyrou et al., « An in Vivo Genetic Reversion Highlights the Crucial Role of Myb-Like, SWIRM, and MPN Domains 1 (MYSM1) in Human Hematopoiesis and Lymphocyte Differentiation », Journal of Allergy and Clinical Immunology, vol.136, issue.6, pp.1619-1626, 2015.

F. S. Leach, C. Nicholas, N. Nicolaides, B. Papadopoulos, J. Liu et al., « Mutations of a MutS Homolog in Hereditary Nonpolyposis Colorectal Cancer, Cell, vol.75, issue.6, pp.1215-1240, 1993.

B. Lee, J. A. Yun, J. Han, A. Sub-im, K. Morrone et al., et Eun Seong Hwang. 2006. « Senescence-Associated ?-Galactosidase Is Lysosomal ?-Galactosidase », vol.5, pp.187-95

J. J. Lee, H. Jan, E. Beumer, and . Chu, Therapeutic Drug Monitoring of 5-Fluorouracil, vol.78, pp.447-64, 2016.

J. -. Lee, M. R. Hoon, R. A. Mand, E. Deshpande, S. Kinoshita et al., et Tanya T. Paull. 2013. « Ataxia Telangiectasia-Mutated (ATM) Kinase Activity Is Regulated by ATP-Driven Conformational Changes in the Mre11/Rad50/Nbs1 (MRN) Complex », vol.288, pp.12840-51

K. Lee, S. Lauren, and . Gollahon, « Zscan4 Interacts Directly with Human Rap1 in Cancer Cells Regardless of Telomerase Status, Cancer Biology & Therapy, vol.15, issue.8, pp.1094-1105, 2014.

Y. Lee, « Defective Neurogenesis Resulting from DNA Ligase IV Deficiency Requires Atm, Genes & Development, vol.14, issue.20, pp.2576-80, 2000.

. Lee-theilen, . Mieun, J. Allysia, D. Matthews, and . Kelly, Simin Zheng, et Jayanta Chaudhuri, CtIP Promotes Microhomology-Mediated Alternative End Joining during Class-Switch Recombination, vol.18, pp.75-79, 2011.

A. Lehmann, « DNA Repair-Deficient Diseases, Xeroderma Pigmentosum, Cockayne Syndrome and Trichothiodystrophy, Biochimie, vol.85, issue.11, pp.1101-1112, 2003.

A. R. Lehmann, Xeroderma Pigmentosum, p.6, 2011.
URL : https://hal.archives-ouvertes.fr/hal-00281488

M. Lei, E. R. Podell, E. Thomas, and R. Cech, « Structure of Human POT1 Bound to Telomeric Single-Stranded DNA Provides a Model for Chromosome End-Protection », Nature Structural & Molecular Biology, vol.11, issue.12, pp.1223-1252, 2004.

M. Levikova, C. Pinto, P. Et, and . Cejka, « The Motor Activity of DNA2 Functions as an SsDNA Translocase to Promote DNA End Resection, Genes & Development, vol.31, issue.5, pp.493-502, 2017.

A. J. Levine, S. L. Et, and . Berger, The Interplay between Epigenetic Changes and the P53 Protein in Stem Cells, vol.31, pp.1195-1201, 2017.

A. J. Levine, M. Et, and . Oren, « The First 30 Years of P53: Growing Ever More Complex », Nature Reviews Cancer, vol.9, issue.10, pp.749-58, 2009.

. Li, F. W. Gang, H. Alt, J. W. Cheng, P. H. Brush et al., « Lymphocyte-Specific Compensation for XLF/Cernunnos End-Joining Functions in V(D)J Recombination », Molecular Cell, vol.31, issue.5, pp.631-671, 2008.

J. Li, J. Chen, L. Christopher, . Ricupero, P. Ronald et al., « Nuclear Accumulation of HDAC4 in ATM Deficiency Promotes Neurodegeneration in Ataxia Telangiectasia », Nature Medicine, vol.18, issue.5, pp.783-90, 2012.

J. S. Li, J. M. Zhou, T. Fusté, C. Simavorian, J. Bartocci et al., TZAP: A Telomere-Associated Protein Involved in Telomere Length Control, vol.355, pp.638-679, 2017.

P. Li, Y. Yang, S. Sanchez, D. Cui, R. Dang et al., « Deubiquitinase MYSM1 Is Essential for Normal Bone Formation and Mesenchymal Stem Cell Differentiation, Scientific Reports, vol.6, issue.1, 2016.

T. Li, N. Kon, L. Jiang, M. Tan, T. Ludwig et al., Tumor Suppression in the Absence of P53-Mediated Cell-Cycle Arrest, Apoptosis, and Senescence, vol.149, pp.1269-83, 2012.

Y. Li, J. Li, H. Liu, Y. Liu, and . Et-binbin-cui, « Expression of MYSM1 Is Associated with Tumor Progression in Colorectal Cancer ». Édité par Hiromu Suzuki, PLOS ONE, vol.12, issue.5, p.177235, 2017.

Z. Li, R. Cao, M. Wang, M. P. Myers, Y. Zhang et al., Structure of a Bmi-1-Ring1B Polycomb Group Ubiquitin Ligase Complex, vol.281, pp.20643-20692, 2006.

. Liakath-ali, V. E. Kifayathullah, E. Vancollie, D. P. Heath, J. Smedley et al., « Novel Skin Phenotypes Revealed by a Genome-Wide Mouse Reverse Genetic Screen », Nature Communications, vol.5, issue.1, 2014.

L. Liang, L. Deng, S. C. Nguyen, X. Zhao, C. D. Maulion et al., « Human DNA Ligases I and III, but Not Ligase IV, Are Required for Microhomology-Mediated End Joining of DNA Double-Strand Breaks, Nucleic Acids Research, vol.36, issue.10, p.3310, 2008.

B. Lim, S. Chan, S. Yoo, J. Lee, H. Shin et al., « Hoyeraal-Hreidarsson Syndrome with a DKC1 Mutation Identified by Whole-Exome Sequencing, Gene, vol.546, issue.2, pp.425-454, 2014.

X. Lin, D. Ojo, F. Wei, N. Wong, and Y. Gu, « A Novel Aspect of Tumorigenesis-BMI1 Functions in Regulating DNA Damage Response, Biomolecules, vol.5, issue.4, pp.3396-3415, 2015.

. Liou, P. Geou-yarh, and . Storz, « Reactive Oxygen Species in Cancer, Free Radical Research, vol.44, issue.5, pp.479-96, 2010.

B. Liu, J. Wang, M. Kui, W. M. Chan, W. Tjia et al., Genomic Instability in Laminopathy-Based Premature Aging, vol.11, p.85, 2005.

Q. Liu, S. Guntuku, X. Cui, S. Matsuoka, D. Cortez et al., Guangbin Luo, et al. s. d. « Chk1 Is an Essential Kinase That Is Regulated by Atr and Required for the G2/M DNA Damage Checkpoint, p.13

Y. Liu, S. E. Elf, Y. Miyata, G. Sashida, Y. Liu et al., « P53 Regulates Hematopoietic Stem Cell Quiescence, Cell Stem Cell, vol.4, issue.1, pp.37-48, 2009.

Z. Liu, H. Lu, H. Shi, Y. Du, J. Yu et al., « PUMA Overexpression Induces Reactive Oxygen Species Generation and Proteasome-Mediated Stathmin Degradation in Colorectal Cancer Cells », Cancer Research, vol.65, issue.5, pp.1647-54, 2005.

M. Löbrich and P. Jeggo, « A Process of Resection-Dependent Nonhomologous End Joining Involving the Goddess Artemis », Trends in Biochemical Sciences, vol.42, issue.9, pp.690-701, 2017.

L. A. Loeb, R. J. Et, and . Monnat, « DNA Polymerases and Human Disease », Nature Reviews Genetics, vol.9, issue.8, pp.594-604, 2008.

J. Loidl, « Conservation and Variability of Meiosis Across the Eukaryotes, Annual Review of Genetics, vol.50, issue.1, pp.293-316, 2016.

D. T. Long, M. Raschle, V. Joukov, and J. C. Walter, « Mechanism of RAD51-Dependent DNA Interstrand Cross-Link Repair, Science, vol.333, issue.6038, pp.84-87, 2011.

Z. Lou, J. Wei, H. Riethman, A. Joseph, R. Baur et al., Telomere Length Regulates ISG15 Expression in Human Cells, p.14, 2009.

J. Loughery, M. Cox, L. M. Smith, and D. W. Meek, « Critical Role for P53-Serine 15 Phosphorylation in Stimulating Transactivation at P53-Responsive Promoters, Nucleic Acids Research, vol.42, issue.12, pp.7666-80, 2014.

W. Lu, Y. Zhang, D. Liu, Z. Songyang, M. Et et al., Telomeres-Structure, Function, and Regulation, vol.319, pp.133-174, 2013.

M. S. Luijsterburg and . Et-haico-van-attikum, « Chromatin and the DNA Damage Response: The Cancer Connection », Molecular Oncology, vol.5, issue.4, pp.349-67, 2011.

C. Lukas, J. Falck, J. Bartkova, J. Bartek, J. Et et al., « Distinct Spatiotemporal Dynamics of Mammalian Checkpoint Regulators Induced by DNA Damage », Nature Cell Biology, vol.5, issue.3, pp.255-60, 2003.

Z. Luo, X. Feng, H. Wang, W. Xu, Y. Zhao et al., Mir-23a Induces Telomere Dysfunction and Cellular Senescence by Inhibiting TRF2 Expression, vol.14, pp.391-99, 2015.

D. R. Mackay, K. S. Ullman, K. Christopher, and . Rodesch, « Time-Lapse Imaging of Mitosis After SiRNA Transfection », Journal of Visualized Experiments, p.40, 2010.

K. Maeshima, R. Imai, S. Tamura, T. Et, and . Nozaki, « Chromatin as Dynamic 10-Nm Fibers, Chromosoma, vol.123, issue.3, pp.225-262, 2014.

S. K. Mahadevaiah, M. A. James, F. Turner, E. P. Baudat, . Rogakou et al., « Recombinational DNA Double-Strand Breaks in Mice Precede Synapsis », Nature Genetics, vol.27, issue.3, pp.271-76, 2001.

B. L. Mahaney, M. Hammel, K. Meek, J. A. Tainer, and S. P. Lees-miller, « XRCC4 and XLF Form Long Helical Protein Filaments Suitable for DNA End Protection and Alignment to Facilitate DNA Double Strand Break Repair, Biochemistry and Cell Biology, vol.91, issue.1, pp.31-41, 2013.

I. J. Majewski, M. E. Ritchie, B. Phipson, J. Corbin, M. Pakusch et al., « Opposing Roles of Polycomb Repressive Complexes in Hematopoietic Stem and Progenitor Cells, Blood, vol.116, issue.5, pp.731-770, 2010.

E. Makhija, D. S. Jokhun, and G. V. Shivashankar, « Nuclear Deformability and Telomere Dynamics Are Regulated by Cell Geometric Constraints, Proceedings of the National Academy of Sciences, vol.113, issue.1, 2016.

P. Mali, K. M. Esvelt, E. George, and M. Church, « Cas9 as a Versatile Tool for Engineering Biology », Nature Methods, vol.10, issue.10, pp.957-63, 2013.

A. Malric, A. Defachelles, T. Leblanc, B. Lescoeur, B. Lacour et al., « Fanconi Anemia and Solid Malignancies in Childhood: A National Retrospective Study: Fanconi Anemia and Malignancies in Childhood, Pediatric Blood & Cancer, vol.62, issue.3, pp.463-70, 2015.

A. Marechal, L. Et, and . Zou, « DNA Damage Sensing by the ATM and ATR Kinases, Cold Spring Harbor Perspectives in Biology, vol.5, issue.9, pp.12716-012716, 2013.

A. Maréchal and L. Zou, « RPA-Coated Single-Stranded DNA as a Platform for Post-Translational Modifications in the DNA Damage Response », Cell Research, vol.25, issue.1, pp.9-23, 2015.

R. M. Marion, K. Strati, H. Li, A. Tejera, S. Schoeftner et al., « Telomeres Acquire Embryonic Stem Cell Characteristics in Induced Pluripotent Stem Cells ». Cell Stem Cell, vol.4, issue.2, pp.141-54, 2009.

H. Martadinata, B. Heddi, K. W. Lim, and A. T. Phan, Structure of Long Human Telomeric RNA (TERRA): G-Quadruplexes Formed by Four and Eight UUAGGG Repeats Are Stable Building Blocks, vol.50, p.61, 2011.

J. A. Marteijn, H. Lans, W. Vermeulen, H. J. Et-jan, and . Hoeijmakers, « Understanding Nucleotide Excision Repair and Its Roles in Cancer and Ageing », Nature Reviews Molecular Cell Biology, vol.15, issue.7, pp.465-81, 2014.

P. A. Mateos-gomez, F. Gong, N. Nair, K. M. Miller, and E. Lazzerini-denchi, et Agnel Sfeir. 2015. « Mammalian Polymerase ? Promotes Alternative NHEJ and Suppresses Recombination, vol.518, pp.254-57

P. A. Mateos-gomez, T. Kent, K. Sarah, S. Deng, E. Mcdevitt et al., « The Helicase Domain of Pol? Counteracts RPA to Promote Alt-NHEJ », Nature Structural & Molecular Biology, vol.24, issue.12, pp.1116-1139, 2017.

A. Mathieu, E. Verronese, G. I. Rice, F. Fouyssac, Y. Bertrand et al., PRKDC Mutations Associated with Immunodeficiency, Granuloma, and Autoimmune Regulator-Dependent Autoimmunity, vol.135, pp.1578-1588, 2015.
URL : https://hal.archives-ouvertes.fr/hal-01917848

J. Matos and S. C. West, « Holliday Junction Resolution: Regulation in Space and Time », DNA Repair, vol.19, pp.176-81, 2014.

E. Mattioli, M. Columbaro, C. Capanni, S. Santi, M. Nadir et al., Drugs Affecting Prelamin A Processing: Effects on Heterochromatin Organization, vol.314, pp.453-62, 2008.

F. Mattiroli, J. H. Vissers, W. J. Van-dijk, P. Ikpa, E. Citterio et al., RNF168 Ubiquitinates K13-15 on H2A/H2AX to Drive DNA Damage Signaling, vol.150, pp.1182-95, 2012.

M. J. Mcilwraith, A. Vaisman, Y. Liu, E. Fanning, R. Woodgate et al., « Human DNA Polymerase ? Promotes DNA Synthesis from Strand Invasion Intermediates of Homologous Recombination », Molecular Cell, vol.20, issue.5, pp.783-92, 2005.

M. Mckerlie, S. Lin, and X. Zhu, « ATM Regulates Proteasome-Dependent Subnuclear Localization of TRF1, Which Is Important for Telomere Maintenance, Nucleic Acids Research, vol.40, issue.9, pp.3975-89, 2012.

P. J. Mckinnon, K. W. Et, and . Caldecott, « DNA Strand Break Repair and Human Genetic Disease, Annual Review of Genomics and Human Genetics, vol.8, issue.1, pp.37-55, 2007.

K. Meier and A. Brehm, « Chromatin Regulation: How Complex Does It Get?, Epigenetics, vol.9, issue.11, pp.1485-95, 2014.

S. P. Methot and J. M. Di-noia, « Molecular Mechanisms of Somatic Hypermutation and Class Switch Recombination, Advances in Immunology, vol.133, pp.37-87, 2017.

J. Meyne, R. L. Ratliff, and R. Moyzis, Conservation of the Human Telomere Sequence (TTAGGG). among Vertebrates ». Proc. Natl. Acad. Sci. USA, 5, 1989.

E. P. Mimitou, L. S. Et, and . Symington, « Sae2, Exo1 and Sgs1 Collaborate in DNA Double-Strand Break Processing, Nature, vol.455, issue.7214, pp.770-74, 2008.

T. Misteli and E. Soutoglou, « The Emerging Role of Nuclear Architecture in DNA Repair and Genome Maintenance », Nature Reviews Molecular Cell Biology, vol.10, issue.4, pp.243-54, 2009.

D. L. Mitchell, R. S. Et, and . Nairn, « THE BIOLOGY OF, pp.6-10, 1989.

. Photoproduct-», Photochemistry and Photobiology, vol.49, issue.6, pp.805-824

J. Moan, M. Grigalavicius, Z. Baturaite, A. Dahlback, A. Et et al., « The Relationship between UV Exposure and Incidence of Skin Cancer: UV Radiation and Skin Cancer, Photodermatology, Photoimmunology & Photomedicine, vol.31, issue.1, p.35, 2015.

. Mocellin, K. A. Simone, D. Pooley, and . Nitti, « Telomerase and the Search for the End of Cancer », Trends in Molecular Medicine, vol.19, issue.2, p.33, 2013.

A. F. Moon, M. John, . Pryor, A. Dale, T. A. Ramsden et al., « Sustained Active Site Rigidity during Synthesis by Human DNA Polymerase µ », Nature Structural & Molecular Biology, vol.21, issue.3, pp.253-60, 2014.

D. H. Moon, M. Segal, B. Boyraz, E. Guinan, I. Hofmann et al., « Poly(A)-Specific Ribonuclease (PARN) Mediates 3?-End Maturation of the Telomerase RNA Component », Nature Genetics, vol.47, issue.12, pp.1482-88, 2015.

W. F. Morgan, M. B. Et, and . Sowa, « Non-Targeted Effects Induced by Ionizing Radiation: Mechanisms and Potential Impact on Radiation Induced Health Effects », Cancer Letters, vol.356, issue.1, pp.17-21, 2015.

F. Morice-picard, M. Cario-andré, H. Rezvani, and D. Lacombe, « New Clinico-Genetic Classification of Trichothiodystrophy, American Journal of Medical Genetics Part A, vol.149, issue.9, p.30, 2009.

A. Mosbech, C. Lukas, S. Bekker-jensen, N. Et, and . Mailand, « The Deubiquitylating Enzyme USP44 Counteracts the DNA Double-Strand Break Response Mediated by the RNF8 and RNF168 Ubiquitin Ligases », Journal of Biological Chemistry, vol.288, issue.23, pp.16579-87, 2013.

D. Moshous, I. Callebaut, B. Régina-de-chasseval, M. Corneo, F. L. Cavazzana-calvo et al., « Artemis, a Novel DNA Double-Strand Break Repair/V(D)J Recombination Protein, Is Mutated in Human Severe Combined Immune Deficiency, Cell, vol.105, issue.2, pp.177-86, 2001.

S. Movérare-skrtic, P. Johansson, N. Mattsson, O. Hansson, A. Wallin et al., « Leukocyte Telomere Length (LTL) Is Reduced in Stable Mild Cognitive Impairment but Low LTL Is Not Associated with Conversion to Alzheimer's Disease: A Pilot Study », Experimental Gerontology, vol.47, issue.2, pp.179-82, 2012.

M. Muramatsu, K. Kinoshita, S. Fagarasan, S. Yamada, Y. Shinkai et al., « Class Switch Recombination and Hypermutation Require Activation-Induced Cytidine Deaminase (AID), a Potential RNA Editing Enzyme, Cell, vol.102, issue.5, pp.78-85, 2000.

M. Muramatsu, H. Nagaoka, R. Shinkura, A. Nasim, . Begum et al., « Discovery of Activation Induced Cytidine Deaminase, the Engraver of Antibody Memory, Advances in Immunology, vol.94, pp.94001-94003, 2007.

P. R. Musich, Y. Et, and . Zou, « DNA-Damage Accumulation and Replicative Arrest in Hutchinson-Gilford Progeria Syndrome, Biochemical Society Transactions, vol.39, issue.6, pp.1764-69, 2011.

T. Naito, I. Et, and . Taniuchi, « Roles of Repressive Epigenetic Machinery in Lineage Decision of T Cells », Immunology, vol.139, issue.2, pp.151-57, 2013.

S. Nakada, « Opposing Roles of RNF8/RNF168 and Deubiquitinating Enzymes in Ubiquitination-Dependent DNA Double-Strand Break Response Signaling and DNA-Repair Pathway Choice, Journal of Radiation Research, vol.57, issue.S1, pp.33-40, 2016.

J. Nandakumar and T. R. Cech, « Finding the End: Recruitment of Telomerase to Telomeres », Nature Reviews Molecular Cell Biology, vol.14, issue.2, pp.69-82, 2013.

V. Nandakumar, Y. Chou, L. Zang, X. F. Huang, and S. Chen, « Epigenetic Control of Natural Killer Cell Maturation by Histone H2A Deubiquitinase, MYSM1 », Proceedings of the National Academy of Sciences, vol.110, issue.41, pp.3927-3963, 2013.

V. Natale, A Comprehensive Description of the Severity Groups in Cockayne Syndrome, American Journal of Medical Genetics Part A, vol.155, issue.5, pp.1081-95, 2011.

M. J. Neale, J. Pan, S. Et, and . Keeney, Endonucleolytic Processing of Covalent Protein-Linked Double-Strand Breaks, p.11, 2006.

T. Neutelings, C. A. Lambert, B. V. Nusgens, and A. C. Colige, « Effects of Mild Cold Shock (25°C) Followed by Warming Up at 37°C on the Cellular Stress Response ». Édité par Georg Stoecklin, PLoS ONE, vol.8, issue.7, p.69687, 2013.

L. J. Ng, J. E. Cropley, H. A. Pickett, R. R. Reddel, and C. M. Suter, « Telomerase Activity Is Associated with an Increase in DNA Methylation at the Proximal Subtelomere and a Reduction in Telomeric Transcription, Nucleic Acids Research, vol.37, issue.4, pp.1152-59, 2009.

F. Nicassio, N. Corrado, H. A. Joseph, L. B. Vissers, S. Areces et al., « Human USP3 Is a Chromatin Modifier Required for S Phase Progression and Genome Stability », Current Biology, vol.17, issue.22, p.77, 1972.

A. Nijnik, S. Clare, C. Hale, C. Raisen, R. E. Mcintyre et al., The Critical Role of Histone H2A-Deubiquitinase Mysm1 in Hematopoiesis and Lymphocyte Differentiation, vol.119, pp.1370-79, 2012.

A. V. Nimonkar, J. Genschel, E. Kinoshita, P. Polaczek, J. L. Campbell et al., « BLM-DNA2-RPA-MRN and EXO1-BLM-RPA-MRN Constitute Two DNA End Resection Machineries for Human DNA Break Repair, Genes & Development, vol.25, issue.4, pp.350-62, 2011.

R. Nishi, P. Wijnhoven, C. Le-sage, J. Tjeertes, Y. Galanty et al., « Systematic Characterization of Deubiquitylating Enzymes for Roles in Maintaining Genome Integrity », Nature Cell Biology, vol.16, issue.10, pp.1016-1042, 2014.

H. Nishikawa, W. Wu, A. Koike, R. Kojima, H. Gomi et al., BRCA1-Associated Protein 1 Interferes with BRCA1/BARD1 RING Heterodimer Activity, vol.69, pp.111-130, 2009.

J. C. Noguera, B. Neil, P. Metcalfe, and . Monaghan, « Experimental Demonstration That Offspring Fathered by Old Males Have Shorter Telomeres and Reduced Lifespans, Proceedings of the Royal Society B: Biological Sciences, vol.285, 1874.

S. M. Noordermeer, S. Adam, D. Setiaputra, M. Barazas, S. J. Pettitt et al., The Shieldin Complex Mediates 53BP1-Dependent DNA Repair, 2018.

T. Ochi, Q. Wu, T. L. Et, and . Blundell, The Spatial Organization of Non-Homologous End Joining: From Bridging to End Joining », vol.17, pp.98-109, 2014.

. O'driscoll, K. M. Mark, P. Cerosaletti, Y. Girard, M. Dai et al., « DNA Ligase IV Mutations Identified in Patients Exhibiting Developmental Delay and Immunodeficiency », Molecular Cell, vol.8, issue.6, pp.408-415, 2001.

. O'driscoll, . Mark, L. Victor, C. G. Ruiz-perez, P. A. Woods et al., « A Splicing Mutation Affecting Expression of Ataxia-Telangiectasia and Rad3-Related Protein (ATR) Results in Seckel Syndrome », Nature Genetics, vol.33, issue.4, pp.497-501, 2003.

H. Ogiwara, . Ui, H. Otsuka, . Satoh, . Yokomi et al., « Histone Acetylation by CBP and P300 at Double-Strand Break Sites Facilitates SWI/SNF Chromatin Remodeling and the Recruitment of Non-Homologous End Joining Factors, Oncogene, vol.30, issue.18, pp.2135-2181, 2011.

H. Ohkura, « Meiosis: An Overview of Key Differences from Mitosis, Cold Spring Harbor Perspectives in Biology, vol.7, issue.5, p.15859, 2015.

M. Ohno, « A Genome-Wide Distribution of 8-Oxoguanine Correlates with the Preferred Regions for Recombination and Single Nucleotide Polymorphism in the Human Genome, 2006.

, Genome Research, vol.16, issue.5, p.75

C. Olivieri, A. Mondino, M. Chinello, A. Risso, E. Finale et al., « Clinical Heterogeneity in a Family with DKC1 Mutation, Dyskeratosis Congenita and Hoyeraal-Hreidarsson Syndrome in First Cousins », Pediatric Reports, vol.9, issue.3, 2017.

A. Orthwein, S. M. Noordermeer, M. D. Wilson, S. Landry, R. I. Enchev et al., « A Mechanism for the Suppression of Homologous Recombination in G1 Cells », Nature, vol.528, issue.7582, pp.422-448, 2015.

H. L. Ozer, T. Satnam-s-banga, J. Dasgupta, K. Houghton, K. K. Hubbard et al.,

S. Ozturk, B. Sozen, and N. Demir, « Telomere Length and Telomerase Activity during Oocyte Maturation and Early Embryo Development in Mammalian Species, Molecular Human Reproduction, vol.20, issue.1, p.30, 2014.

W. Palm and . Titia-de-lange, « How Shelterin Protects Mammalian Telomeres, Annual Review of Genetics, vol.42, issue.1, pp.301-335, 2008.

. Panda, J. A. Swarupa, N. O. Nilsson, and . Gekara, Deubiquitinase MYSM1 Regulates Innate Immunity through Inactivation of TRAF3 and TRAF6 Complexes, vol.43, pp.647-59, 2015.

S. Panier and D. Durocher, « Regulatory Ubiquitylation in Response to DNA Double-Strand Breaks », DNA Repair, vol.8, issue.4, pp.436-479, 2009.

A. Panopoulos, C. Pacios-bras, J. Choi, M. Yenjerla, M. A. Sussman et al., « Failure of Cell Cleavage Induces Senescence in Tetraploid Primary Cells, Molecular Biology of the Cell, vol.25, pp.3105-3123, 1920.

V. Pant, A. Quintas-cardama, and E. G. Lozano, The P53 Pathway in Hematopoiesis: Lessons from Mouse Models, Implications for Humans, vol.120, pp.5118-5145, 2012.

J. Park, E. Park, S. Hur, S. Kim, J. Et et al., « Mammalian SWI/SNF Chromatin Remodeling Complexes Are Required to Prevent Apoptosis after DNA Damage », DNA Repair, vol.8, issue.1, pp.29-39, 2009.

J. L. Parsons, I. Irina, S. V. Dianova, M. J. Khoronenkova, . Edelmann et al., « USP47 Is a Deubiquitylating Enzyme That Regulates Base Excision Repair by Controlling Steady-State Levels of DNA Polymerase ? », Molecular Cell, vol.41, issue.5, pp.609-624, 2011.

J. Patterson-fortin, G. Shao, H. Bretscher, T. E. Messick, A. Roger et al., « Differential Regulation of JAMM Domain Deubiquitinating Enzyme Activity within the RAP80 Complex, Journal of Biological Chemistry, vol.285, issue.40, pp.30971-81, 2010.

T. T. Paull, Making the Best of the Loose Ends: Mre11/Rad50 Complexes and Sae2 Promote DNA Double-Strand Break Resection », Mechanisms of ATM Activation, vol.9, pp.711-749, 2010.

S. Pavanello, L. A.-c.-pesatori, M. Dioni, V. Hoxha, E. Bollati et al., « Shorter Telomere Length in Peripheral Blood Lymphocytes of Workers Exposed to Polycyclic Aromatic Hydrocarbons, Carcinogenesis, vol.31, issue.2, pp.216-237, 2010.

I. M. Pedroso, W. Hayward, M. Et-terace, and . Fletcher, The Effect of the TRF2 N-Terminal and TRFH Regions on Telomeric G-Quadruplex Structures, vol.37, pp.1541-54, 2009.

G. Peng, E. Yim, H. Dai, A. P. Jackson, I. Van-der et al., « BRIT1/MCPH1 Links Chromatin Remodelling to DNA Damage Response », Nature Cell Biology, vol.11, issue.7, pp.865-72, 2009.

S. Perrone, F. Lotti, U. Geronzi, E. Guidoni, M. Longini et al., « Oxidative Stress in Cancer-Prone Genetic Diseases in Pediatric Age: The Role of Mitochondrial Dysfunction, Oxidative Medicine and Cellular Longevity, vol.1, 2016.

S. Petersen, G. Saretzki, and . Et-thomas-von-zglinicki, « Preferential Accumulation of Single-Stranded Regions in Telomeres of Human Fibroblasts, Experimental Cell Research, vol.239, issue.1, p.60, 1998.

R. J. Pezza, O. N. Voloshin, F. Vanevski, and R. D. Camerini-otero, Hop2/Mnd1 Acts on Two Critical Steps in Dmc1-Promoted Homologous Pairing, vol.21, pp.1758-66, 2007.

R. J. Pezza, R. Camerini-otero, R. Et-piero, and . Bianco, « Hop2-Mnd1 Condenses DNA to Stimulate the Synapsis Phase of DNA Strand Exchange », Biophysical Journal, vol.99, issue.11, pp.3763-72, 2010.

C. Pinto, K. Kasaciunaite, R. Seidel, P. Et, and . Cejka, « Human DNA2 Possesses a Cryptic DNA Unwinding Activity That Functionally Integrates with BLM or WRN Helicases ». ELife 5 (septembre), 2016.

M. J. Plevin, M. Morgon, M. Mills, and . Ikura, « The LxxLL Motif: A Multifunctional Binding Sequence in Transcriptional Regulation », Trends in Biochemical Sciences, vol.30, issue.2, pp.66-69, 2005.

J. D. Podlevsky, C. J. Bley, R. V. Omana, X. Qi, J. J. et al., The Telomerase Database, vol.36, pp.339-382, 2007.

S. E. Polo and S. P. Jackson, « Dynamics of DNA Damage Response Proteins at DNA Breaks: A Focus on Protein Modifications, Genes & Development, vol.25, issue.5, p.33, 2011.

S. E. Polo, A. Kaidi, L. Baskcomb, Y. Galanty, E. Stephen et al., « Regulation of DNA-Damage Responses and Cell-Cycle Progression by the Chromatin Remodelling Factor CHD4, The EMBO Journal, vol.29, issue.18, pp.3130-3169, 2010.

A. Polvi, T. Linnankivi, T. Kivelä, R. Herva, J. P. Keating et al., « Mutations in CTC1 , Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts, The American Journal of Human Genetics, vol.90, issue.3, pp.540-589, 2012.

L. B. Pontel, V. Ivan, G. Rosado, J. I. Burgos-barragan, R. Garaycoechea et al., « Endogenous Formaldehyde Is a Hematopoietic Stem Cell Genotoxin and Metabolic Carcinogen », Molecular Cell, vol.60, issue.1, pp.177-88, 2015.

A. Porro, S. Feuerhahn, J. Delafontaine, H. Riethman, J. Rougemont et al., « Functional Characterization of the TERRA Transcriptome at Damaged Telomeres », Nature Communications, vol.5, issue.1, 2014.

C. J. Potenski, H. L. Et, and . Klein, « How the Misincorporation of Ribonucleotides into Genomic DNA Can Be Both Harmful and Helpful to Cells, Nucleic Acids Research, vol.42, issue.16, pp.10226-10260, 2014.

P. Pourquier and Y. Pommier, « Topoisomerase I-Mediated DNA Damage, Advances in Cancer Research, vol.80, pp.80016-80022, 2001.

K. N. Prasad, M. Wu, S. C. Et, and . Bondy, Telomere Shortening during Aging: Attenuation by Antioxidants and Anti-Inflammatory Agents, vol.164, pp.61-66, 2017.

A. M. Price, M. A. Et, and . Luftig, « Dynamic Epstein-Barr Virus Gene Expression on the Path to B-Cell Transformation, Advances in Virus Research, vol.88, pp.279-313, 2014.

J. M. Pryor, A. Crystal, A. Waters, K. Aza, C. Asagoshi et al., Essential Role for Polymerase Specialization in Cellular Nonhomologous End Joining, vol.112, 2015.

N. Puri, S. Ahmed, V. Janamanchi, M. Tretiakova, O. Zumba et al., C-Met Is a Potentially New Therapeutic Target for Treatment of Human Melanoma, vol.13, pp.2246-53, 2007.

S. Puyo, D. Montaudon, P. Et, and . Pourquier, « From Old Alkylating Agents to New Minor Groove Binders, Critical Reviews in Oncology/Hematology, vol.89, issue.1, p.61, 2014.

W. Qi, R. Wang, H. Chen, X. Wang, T. Xiao et al., « BRG1 Promotes the Repair of DNA Double-Strand Breaks by Facilitating the Replacement of RPA with RAD51 », Journal of Cell Science, vol.128, issue.2, pp.317-347, 2015.

C. Qian, Q. Zhang, S. Li, L. Zeng, J. Martin et al., Structure and Chromosomal DNA Binding of the SWIRM Domain, vol.12, pp.1078-85, 2005.

. Qiao, J. K. Huanyu, A. Chen, C. Reynolds, M. Höög et al., Interplay between Synaptonemal Complex, Homologous Recombination, and Centromeres during Mammalian Meiosis, vol.8, p.1002790, 2012.

P. Qvist, P. Huertas, S. Jimeno, M. Nyegaard, M. J. Hassan et al., « CtIP Mutations Cause Seckel and Jawad Syndromes ». Édité par Veronica van Heyningen, PLoS Genetics, vol.7, issue.10, p.1002310, 2011.

J. R. Raab, S. John, C. C. Runge, T. Spear, and . Magnuson, Co-Regulation of Transcription by BRG1 and BRM, Two Mutually Exclusive SWI/SNF ATPase Subunits, 2017.

, Epigenetics & Chromatin, vol.10, issue.1

S. Rackley, M. Pao, G. F. Seratti, N. Giri, J. J. Rasimas et al., « Neuropsychiatric Conditions Among Patients with Dyskeratosis Congenita: A Link with Telomere Biology?, Psychosomatics, vol.53, issue.3, pp.230-265, 2012.

R. Rai, Y. Chen, M. Lei, S. Et, and . Chang, « TRF2-RAP1 Is Required to Protect Telomeres from Engaging in Homologous Recombination-Mediated Deletions and Fusions », Nature Communications, vol.7, p.10881, 2016.

R. Rai, H. Zheng, H. He, Y. Luo, A. Multani et al., The Function of Classical and Alternative Non-Homologous End-Joining Pathways in the Fusion of Dysfunctional Telomeres », vol.29, 2010.

. Ran, . Ann, D. Patrick, J. Hsu, V. Wright et al., « Genome Engineering Using the CRISPR-Cas9 System », Nature Protocols, vol.8, issue.11, pp.2281-2308, 2013.

. Ranjha, S. M. Lepakshi, P. Howard, and . Cejka, « Main Steps in DNA Double-Strand Break Repair: An Introduction to Homologous Recombination and Related Processes, Chromosoma, vol.127, issue.2, pp.187-214, 2018.

. Ratnasamy, S. Vithiya, . Navaneethakrishnan, N. Nirmala-dushyanthi-sirisena, O. Grüning et al., « Dyskeratosis Congenita with a Novel Genetic Variant in the DKC1 Gene: A Case Report, BMC Medical Genetics, vol.19, issue.1, 2018.

P. D. Ray, . Bo-wen, . Huang, Y. Et, and . Tsuji, « Reactive Oxygen Species (ROS) Homeostasis and Redox Regulation in Cellular Signaling », Cellular Signalling, vol.24, issue.5, pp.981-90, 2012.

S. Redon, P. Reichenbach, J. Et, and . Lingner, « The Non-Coding RNA TERRA Is a Natural Ligand and Direct Inhibitor of Human Telomerase, Nucleic Acids Research, vol.38, issue.17, pp.5797-5806, 2010.

D. Reisman, . Glaros, and . Thompson, « The SWI/SNF Complex and Cancer, Oncogene, vol.28, issue.14, pp.1653-68, 2009.

. Renkawitz, C. A. Jörg, S. Lademann, and . Jentsch, « Mechanisms and Principles of Homology Search during Recombination », Nature Reviews Molecular Cell Biology, vol.15, issue.6, pp.369-83, 2014.

. Reuter, S. C. Simone, . Gupta, M. Madan, . Chaturvedi et al., « Oxidative Stress, Inflammation, and Cancer: How Are They Linked?, Free Radical Biology and Medicine, vol.49, issue.11, pp.1603-1619, 2010.

P. Revy, T. Muto, Y. Levy, F. Geissmann, A. Plebani et al., « Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2), Cell, vol.102, issue.5, pp.79-88, 2000.

S. Rezazadeh, On BLM Helicase in Recombination-Mediated Telomere Maintenance, vol.40, pp.3049-64, 2013.

M. Ricci, C. Aurelia, M. F. Manzo, M. García-parajo, . Lakadamyali et al., « Chromatin Fibers Are Formed by Heterogeneous Groups of Nucleosomes In Vivo, Cell, vol.160, issue.6, pp.1145-58, 2015.

A. M. Risitano, S. Marotta, R. Calzone, F. Grimaldi, and A. Zatterale, et on behalf of all RIAF Contributors. 2016. « Twenty Years of the Italian Fanconi Anemia Registry: Where We Stand and What Remains to Be Learned, vol.101, pp.319-346

P. Rivera-munoz, L. Malivert, S. Derdouch, C. Azerrad, V. Abramowski et al., « DNA Repair and the Immune System: From V(D)J Recombination to Aging Lymphocytes, European Journal of Immunology, vol.37, issue.S1, pp.71-82, 2007.

A. Rizzo, E. Salvati, M. Porru, D. Carmen, M. F. Angelo et al., « Stabilization of Quadruplex DNA Perturbs Telomere Replication Leading to the Activation of an ATR-Dependent ATM Signaling Pathway, Nucleic Acids Research, vol.37, issue.16, pp.5353-64, 2009.

C. M. Roake, S. E. Et, and . Artandi, « Control of Cellular Aging, Tissue Function, and Cancer by P53 Downstream of Telomeres, Cold Spring Harbor Perspectives in Medicine, vol.7, issue.5, p.26088, 2017.

T. Robert, N. Vrielynck, C. Mézard, . Bernard-de-massy, M. Et et al., « A New Light on the Meiotic DSB Catalytic Complex ». Seminars in Cell & Developmental Biology, vol.54, pp.165-76, 2016.

J. D. Robin and . Et-frédérique-magdinier, « Physiological and Pathological Aging Affects Chromatin Dynamics, Structure and Function at the Nuclear Edge », Frontiers in Genetics, vol.7, 2016.

F. Rodier, D. P. Munoz, R. Teachenor, V. Chu, O. Le et al., « DNA-SCARS: Distinct Nuclear Structures That Sustain Damage-Induced Senescence Growth Arrest and Inflammatory Cytokine Secretion », Journal of Cell Science, vol.124, issue.1, pp.68-81, 2011.

D. B. Roth, « V(D)J Recombination: Mechanism, Errors, and Fidelity », Microbiology Spectrum, vol.2, issue.6, 2014.

S. B. Rothbart, D. Et-brian, and . Strahl, « Interpreting the Language of Histone and DNA Modifications, Biochimica et Biophysica Acta (BBA) -Gene Regulatory Mechanisms, vol.1839, issue.8, pp.627-670, 2014.

K. J. Roux, B. Dae-in-kim, J. E. Burke-;-par, B. M. Coligan, D. W. Dunn et al., « BioID: A Screen for Protein-Protein Interactions: BioID Screen for Protein Interactions, Current Protocols in Protein Science, édité, 2013.

. Ruan, T. G. Kun, H. Yamamoto, Y. Asakawa, H. Chikashige et al., « Histone H4 Acetylation Required for Chromatin Decompaction during, DNA Replication ». Scientific Reports, vol.5, issue.1, 2015.

M. Ruden and N. Puri, Novel Anticancer Therapeutics Targeting Telomerase, vol.39, pp.444-56, 2013.

T. Ryu, B. Spatola, L. Delabaere, K. Bowlin, H. Hopp et al., « Heterochromatic Breaks Move to the Nuclear Periphery to Continue Recombinational Repair », Nature Cell Biology, vol.17, issue.11, pp.1401-1412, 2015.

P. Sachadyn, « Conservation and Diversity of MutS Proteins ». Mutation Research/Fundamental and Molecular Mechanisms of, Mutagenesis, vol.694, issue.2, p.30, 2010.

S. Sagie, E. Ellran, H. Katzir, R. Shaked, S. Yehezkel et al., « Induced Pluripotent Stem Cells as a Model for Telomeric Abnormalities in ICF Type I Syndrome, Human Molecular Genetics, vol.23, issue.14, pp.3629-3669, 2014.

A. Saint-léger, M. Koelblen, L. Civitelli, A. Bah, N. Djerbi et al., « The Basic N-Terminal Domain of TRF2 Limits Recombination Endonuclease Action at Human Telomeres », Cell Cycle, vol.13, issue.15, pp.2469-74, 2014.

C. J. Sakofsky, A. Et, and . Malkova, Break Induced Replication in Eukaryotes: Mechanisms, Functions, and Consequences, vol.52, pp.395-413, 2017.

S. Samanta and . Karmakar, « Recruitment of HRDC Domain of WRN and BLM to the Sites of DNA Damage Induced by Mitomycin C and Methyl Methanesulfonate, Cell Biology International, vol.36, issue.10, p.81, 2012.

I. Sanchez-roman, S. Lautrup, M. D. Aamann, E. G. Neilan, J. R. Østergaard et al., « Two Cockayne Syndrome Patients with a Novel Splice Site Mutation -Clinical and Metabolic Analyses, Mechanisms of Ageing and Development, vol.175, pp.7-16, 2018.

G. Sarek, J. Vannier, S. Panier, H. J. John, S. J. Petrini et al., TRF2 Recruits RTEL1 to Telomeres in S Phase to Promote T-Loop Unwinding, vol.57, p.35, 2015.

J. Sarthy, N. S. Bae, J. Scrafford, P. Et, and . Baumann, « Human RAP1 Inhibits Non-Homologous End Joining at Telomeres, vol.28, pp.3390-99, 2009.

G. Sasa, N. Ribes-zamora, . Nelson, A. Et, and . Bertuch, Three Novel Truncating TINF2 Mutations Causing Severe Dyskeratosis Congenita in Early Childhood », vol.81, pp.470-78, 2012.

K. I. Savage, D. Et, and . Paul-harkin, « BRCA1, a 'Complex' Protein Involved in the Maintenance of Genomic Stability, The FEBS Journal, vol.282, issue.4, pp.630-676, 2015.

S. A. Savage, « Connecting Complex Disorders through Biology », Nature Genetics, vol.44, issue.3, p.40, 2012.

S. A. Savage, Progress in Molecular Biology and Translational Science, vol.125, pp.41-66, 2014.

S. A. Savage, N. Giri, G. M. Baerlocher, N. Orr, P. M. Lansdorp et al., « TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita, The American Journal of Human Genetics, vol.82, issue.2, 2008.

R. S. Savkur and T. P. Burris, « The Coactivator LXXLL Nuclear Receptor Recognition Motif », Journal of Peptide Research, vol.63, issue.3, pp.207-219, 2004.

D. G. Schatz, P. C. Et, and . Swanson, « V(D)J Recombination: Mechanisms of Initiation, Annual Review of Genetics, vol.45, issue.1, pp.167-202, 2011.

J. C. Scheuermann, K. Andrés-gaytán-de-ayala-alonso, N. Oktaba, R. K. Ly-hartig, S. Mcginty et al., et Jürg Müller. 2010. « Histone H2A Deubiquitinase Activity of the Polycomb Repressive Complex PR-DUB, vol.465, pp.243-290

S. Schoeftner and M. A. Blasco, « Developmentally Regulated Transcription of Mammalian Telomeres by DNA-Dependent RNA Polymerase II », Nature Cell Biology, vol.10, issue.2, pp.228-264, 2008.

F. A. Scholl, J. Kamarashev, R. Omar-v-murmann, R. Geertsen, and . Dummer, et Beat W Schafer. s. d. « PAX3 Is Expressed in Human Melanomas and Contributes to Tumor Cell Survival, p.5

C. E. Schrader, J. E. Guikema, E. K. Linehan, E. Selsing, and J. Stavnezer, « Activation-Induced Cytidine Deaminase-Dependent DNA Breaks in Class Switch Recombination Occur during G1 Phase of the Cell Cycle and Depend upon Mismatch Repair, The Journal of Immunology, vol.179, issue.9, pp.6064-71, 2007.

C. E. Schrader, K. Erin, S. N. Linehan, R. T. Mochegova, and . Woodland, et Janet Stavnezer. 2005. « Inducible DNA Breaks in Ig S Regions Are Dependent on AID and UNG, vol.202, pp.561-68

. Schuster-böckler, B. Benjamin, and . Lehner, « Chromatin Organization Is a Major Influence on Regional Mutation Rates in Human Cancer Cells », Nature, vol.488, issue.7412, 2012.

Y. B. Schwartz, V. Et, and . Pirrotta, « Ruled by Ubiquitylation: A New Order for Polycomb Recruitment », Cell Reports, vol.8, issue.2, pp.321-346, 2014.

A. Seeber, M. Hauer, M. Et-susan, and . Gasser, « Nucleosome Remodelers in Double-Strand Break Repair, Current Opinion in Genetics & Development, vol.23, issue.2, p.84, 2013.

P. Seeman, K. Gebertová, K. Pad?rová, K. Sperling, E. Et et al., « Nijmegen Breakage Syndrome in 13% of Age-Matched Czech Children with Primary Microcephaly », Pediatric Neurology, vol.30, issue.3, 2004.

A. W. Segal, « HOW NEUTROPHILS KILL MICROBES, Annual Review of Immunology, vol.23, issue.1, pp.197-223, 2005.

J. -. Seol, E. Y. Hwan, S. E. Shim, and . Lee, Microhomology-Mediated End Joining: Good, Bad and Ugly ». Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, vol.809, pp.81-87, 2018.

A. Sfeir, T. Et, and . De-lange, Removal of Shelterin Reveals the Telomere End-Protection Problem, vol.336, pp.593-97, 2012.

. Sfeir, S. T. Agnel, D. Kosiyatrakul, S. L. Hockemeyer, J. Macrae et al., « Mammalian Telomeres Resemble Fragile Sites and Require TRF1 for Efficient Replication, Cell, vol.138, issue.1, pp.90-103, 2009.

N. M. Shanbhag, U. Ilona, C. Rafalska-metcalf, S. M. Balane-bolivar, . Janicki et al., « ATM-Dependent Chromatin Changes Silence Transcription In Cis to DNA Double-Strand Breaks, Cell, vol.141, issue.6, pp.970-81, 2010.

N. Sharma, Q. Zhu, G. Wani, J. He, Q. Wang et al., « USP3 Counteracts RNF168 via Deubiquitinating H2A and ?H2AX at Lysine 13 and 15 », Cell Cycle, vol.13, pp.106-120, 2014.

J. W. Shay, E. Et-woodring, and . Wright, Telomerase: A Target for Cancer Therapeutics, vol.2, pp.159-168, 2002.

J. W. Shay, E. Woodring, H. Wright, and . Werbin, « Defining the Molecular Mechanisms of Human Cell Immortalization, Biochimica et Biophysica Acta (BBA) -Reviews on Cancer, vol.1072, issue.1, pp.1-7, 1991.

J. W. Shay and S. Bacchetti, « A Survey of Telomerase Activity in Human Cancer, European Journal of Cancer, vol.33, issue.5, pp.787-91, 1997.

A. Shibata, D. Moiani, A. S. Arvai, J. Perry, S. M. Harding et al., « DNA Double-Strand Break Repair Pathway Choice Is Directed by Distinct MRE11 Nuclease Activities », Molecular Cell, vol.53, issue.1, pp.7-18, 2014.

H. Shibuya, A. Kato, N. Kai, S. Fujiwara, M. Et et al., « A Case of Werner Syndrome with Three Primary Lesions of Malignant Melanoma, The Journal of Dermatology, vol.32, issue.9, pp.737-781, 2005.

I. Shimizu, Y. Yoshida, M. Suda, T. Et, and . Minamino, « DNA Damage Response and Metabolic Disease », Cell Metabolism, vol.20, issue.6, pp.967-77, 2014.

A. Simm and J. Campisi, Stress and Aging, vol.59, 2014.

D. Simsek, E. Brunet, S. Wong, S. Katyal, Y. Gao et al., DNA Ligase III Promotes Alternative Nonhomologous End-Joining during Chromosomal Translocation Formation, vol.7, p.1002080, 2011.
URL : https://hal.archives-ouvertes.fr/inserm-00715279

D. Singh, A. K. Kumar, D. L. Ghosh, V. A. Croteau, and . Bohr, « RecQ Helicases in DNA Double Strand Break Repair and Telomere Maintenance ». Mutation Research/Fundamental and Molecular Mechanisms of, Mutagenesis, vol.736, issue.1, pp.15-24, 2012.

. Singh, C. R. Mayank, R. K. Hunt, R. Pandita, C. Kumar et al., « Lamin A/C Depletion Enhances DNA Damage-Induced Stalled Replication Fork Arrest, Molecular and Cellular Biology, vol.33, issue.6, pp.1210-1232, 2013.

P. L. Skipper, M. Y. Kim, H. P. Sun, G. N. Wogan, and S. R. Tannenbaum, « Monocyclic Aromatic Amines as Potential Human Carcinogens: Old Is New Again », Carcinogenesis, vol.31, issue.1, pp.50-58, 2010.

J. Smith, L. Mun-tho, N. Xu, A. David, and . Gillespie, « The ATM-Chk2 and ATR-Chk1 Pathways in DNA Damage Signaling and Cancer, Advances in Cancer Research, vol.108, pp.73-112, 2010.

S. L. Smith-roe, J. Nakamura, D. Holley, P. D. Chastain, G. B. Rosson et al., « SWI/SNF Complexes Are Required for Full Activation of the DNA-Damage Response, Oncotarget, vol.6, issue.2, 2015.

A. Smogorzewska, B. Van-steensel, A. Bianchi, S. Oelmann, M. R. Schaefer et al., Control of Human Telomere Length by TRF1 and TRF2, vol.20, pp.1659-68, 2000.

A. Smogorzewska, S. Matsuoka, P. Vinciguerra, and E. Mcdonald, « Identification of the Fanconi Anemia (FANC) I Protein, a Monoubiquitinated FANCD2 Paralog Required for Crosslink Repair, p.23, 2008.

B. Sobhian, G. Shao, D. R. Lilli, A. C. Culhane, L. A. Moreau et al., « RAP80 Targets BRCA1 to Specific Ubiquitin Structures at DNA Damage Sites, Science, vol.316, issue.5828, pp.1198-1202, 2007.

A. P. Sobinoff, H. A. Et, and . Pickett, « Alternative Lengthening of Telomeres: DNA Repair Pathways Converge », Trends in Genetics, vol.33, issue.12, pp.921-953, 2017.

D. H. Sohn, Y. Kyoo, C. Lee, J. Lee, H. Oh et al., « SRG3 Interacts Directly with the Major Components of the SWI/SNF Chromatin Remodeling Complex and Protects Them from Proteasomal Degradation », Journal of Biological Chemistry, vol.282, issue.14, pp.10614-10638, 2007.

G. Soria, S. E. Polo, and . Et-geneviève-almouzni, « Prime, Repair, Restore: The Active Role of Chromatin in the DNA Damage Response », Molecular Cell, vol.46, issue.6, p.34, 2012.

G. Stadler, F. Rahimov, D. Oliver, . King, C. Jennifer et al., Telomere Position Effect Regulates DUX4 in Human Facioscapulohumeral Muscular Dystrophy, vol.20, pp.671-78, 2013.

S. E. Stanley, D. L. Gable, C. L. Wagner, T. M. Carlile, . Vidya-sagar et al., « Loss-of-Function Mutations in the RNA Biogenesis Factor NAF1 Predispose to Pulmonary Fibrosis-Emphysema », Science Translational Medicine, vol.8, issue.351, pp.351-107, 2016.

M. Stefanini, E. Botta, M. Lanzafame, and D. Orioli, « Trichothiodystrophy: From Basic Mechanisms to Clinical Implications », DNA Repair, vol.9, issue.1, p.10, 2010.

J. Steffen, R. Varon, M. Mosor, G. Maneva, M. Maurer et al., « Increased Cancer Risk of Heterozygotes WithNBS1 Germline Mutations in Poland, International Journal of Cancer, vol.111, issue.1, pp.67-71, 2004.

G. S. Stewart, S. Richard, T. Maser, D. A. Stankovic, . Bressan et al., « The DNA Double-Strand Break Repair Gene HMRE11 Is Mutated in Individuals with an Ataxia-Telangiectasia-like Disorder, Cell, vol.99, issue.6, pp.81547-81547, 1999.

S. Storr, C. M-woolston, and . Martin, Base Excision Repair, the Redox Environment and Therapeutic Implica-Tions, Base Excision Repair, p.14

B. D. Stuart, J. Choi, S. Zaidi, C. Xing, B. Holohan et al., « Exome Sequencing Links Mutations in PARN and RTEL1 with Familial Pulmonary Fibrosis and Telomere Shortening », Nature Genetics, vol.47, issue.5, pp.512-529, 2015.

. Subramanyam, C. D. Shyamal, R. L. Kinz-thompson, M. Gonzalez, and . Spies, « Observation and Analysis of RAD51 Nucleation Dynamics at Single-Monomer Resolution, Methods in Enzymology, vol.600, 2018.

F. Supek and B. Lehner, « Differential DNA Mismatch Repair Underlies Mutation Rate Variation across the Human Genome », Nature, vol.521, issue.7550, pp.81-84, 2015.

M. Swift, J. L. Et, and . Lukin, « Breast Cancer Incidence and the Effect of Cigarette Smoking in Heterozygous Carriers of Mutations in the Ataxia-Telangiectasia Gene, Cancer Epidemiology Biomarkers & Prevention, vol.17, issue.11, pp.3188-92, 2008.

S. M. Sy, J. Jiang, Y. Deng, and M. S. Huen, « The Ubiquitin Specific Protease USP34 Promotes Ubiquitin Signaling at DNA Double-Strand Breaks », Nucleic Acids Research, vol.41, issue.18, pp.8572-80, 2013.

R. D. Taalman, N. G. Jaspers, J. M. Scheres, J. De-wit, and T. W. Hustinx, Hypersensitivity to Ionizing Radiation, in Vitro, in a New Chromosomal Breakage Disorder, the Nijmegen Breakage Syndrome, vol.112, pp.23-32, 1983.

H. Takai, E. Jenkinson, S. Kabir, R. Babul-hirji, N. Najm-tehrani et al., A POT1 Mutation Implicates Defective Telomere End Fill-in and Telomere Truncations in Coats Plus, vol.30, pp.812-838, 2016.

H. Takai, A. Smogorzewska, and . Et-titia-de-lange, « DNA Damage Foci at Dysfunctional Telomeres », Current Biology, vol.13, issue.17, pp.542-548, 2003.

K. K. Takai, J. R. Tatsuya-kibe, D. Donigian, . Frescas, and . Et-titia-de-lange, Telomere Protection by TPP1/POT1 Requires Tethering to TIN2, vol.44, pp.647-59, 2011.

S. Takeda, K. Nakamura, Y. Taniguchi, T. T. Et, and . Paull, « Ctp1/CtIP and the MRN Complex Collaborate in the Initial Steps of Homologous Recombination », Molecular Cell, vol.28, issue.3, pp.351-52, 2007.

M. Tammaro, S. Liao, J. Mccane, H. Et, and . Yan, « The N-Terminus of RPA Large Subunit and Its Spatial Position Are Important for the 5?->3? Resection of DNA Double-Strand Breaks », Nucleic Acids Research, vol.43, issue.18, p.8800, 2015.

J. Tang, N. W. Cho, G. Cui, . Erica-m-manion, M. Niraj et al., « Acetylation Limits 53BP1 Association with Damaged Chromatin to Promote Homologous Recombination », Nature Structural & Molecular Biology, vol.20, issue.3, pp.317-342, 2013.

M. Tarsounas and M. Tijsterman, « Genomes and G-Quadruplexes: For Better or for Worse, Journal of Molecular Biology, vol.425, issue.23, pp.4782-89, 2013.

M. R. Taylor, M. ?pírek, K. R. Chaurasiya, J. D. Ward, R. Carzaniga et al., Rad51 Paralogs Remodel Pre-Synaptic Rad51 Filaments to Stimulate Homologous Recombination, vol.162, pp.271-86, 2015.

A. Technau, A. Wolff, C. Sauder, N. Birkner, G. Et et al., « P53 in SV40-Transformed DNA-Damaged Human Cells Binds to Its Cognate Sequence but Fails to Transactivate Target Genes, International Journal of Oncology, 2001.

M. «-the and . Revisited, Journal of Biomedical Research, 2013.

K. P. Theall, S. Mckasson, E. Mabile, L. F. Dunaway, and S. S. Drury, « Early Hits and Long-Term Consequences: Tracking the Lasting Impact of Prenatal Smoke Exposure on Telomere Length in Children, vol.103, pp.133-168, 2013.

R. Thweatt and S. Goldstein, « Hypothesis: Werner Syndrome and Biological Ageing: A Molecular Genetic Hypothesis, BioEssays, vol.15, issue.6, pp.421-447, 1993.

A. Tichý, J. Vávrová, J. Pejchal, M. Et, and . ?ezá?ová, « Ataxia-Telangiectasia Mutated Kinase (ATM) as a Central Regulator of Radiation-Induced DNA Damage Response, Acta Medica, vol.53, issue.1, pp.13-17, 2010.

N. Tochio, T. Umehara, S. Koshiba, M. Inoue, T. Yabuki et al., « Solution Structure of the SWIRM Domain of Human Histone Demethylase LSD1, Structure, vol.14, issue.3, pp.457-68, 2006.

T. Tokino, Y. Et, and . Nakamura, « The Role of P53-Target Genes in Human Cancer, Critical Reviews in Oncology/Hematology, vol.33, issue.1, pp.51-58, 2000.

J. Tomida, A. Itaya, T. Shigechi, J. Unno, E. Uchida et al., « A Novel Interplay between the Fanconi Anemia Core Complex and ATR-ATRIP Kinase during DNA Cross-Link Repair, Nucleic Acids Research, vol.41, issue.14, pp.6930-6971, 2013.

M. B. Totonchy, D. Tamura, M. S. Pantell, C. Zalewski, P. T. Bradford et al., « Auditory Analysis of Xeroderma Pigmentosum 1971-2012: Hearing Function, Sun Sensitivity and DNA Repair Predict Neurological Degeneration, Brain, vol.136, issue.1, pp.194-208, 2013.

F. Touzot, I. Callebaut, J. Soulier, L. Gaillard, C. Azerrad et al., « Function of Apollo (SNM1B) at Telomere Highlighted by a Splice Variant Identified in a Patient with Hoyeraal-Hreidarsson Syndrome, Proceedings of the National Academy of Sciences, vol.107, issue.22, pp.10097-102, 2010.

F. Touzot, L. Dal-cortivo, V. Verkarre, A. Lim, A. Crucis-armengaud et al., « Massive Expansion of Maternal T Cells in Response to EBV Infection in a Patient with SCID-Xl », Blood, vol.120, issue.9, p.59, 1957.

D. M. Townsley, B. Dumitriu, and N. S. Young, Bone Marrow Failure and the Telomeropathies, vol.124, pp.2775-83, 2014.

C. Trahan, F. Et, and . Dragon, « Dyskeratosis Congenita Mutations in the H/ACA Domain of Human Telomerase RNA Affect Its Assembly into a Pre-RNP », RNA, vol.15, issue.2, pp.235-278, 2009.

C. Trahan, C. Martel, and F. Dragon, Effects of Dyskeratosis Congenita Mutations in Dyskerin, NHP2 and NOP10 on Assembly of H/ACA Pre-RNPs, vol.19, pp.825-861, 2010.

Y. Troumani, F. Ackermann, S. Cohen, S. Touhami, G. Nasser et al., « Coats Plus : la version systémique de la maladie de Coats », Journal Français d'Ophtalmologie, vol.39, issue.7, pp.167-70, 2016.

L. N. Truong, Y. Li, L. Z. Shi, P. Y. Hwang, J. He et al., « Microhomology-Mediated End Joining and Homologous Recombination Share the Initial End Resection Step to Repair DNA Double-Strand Breaks in Mammalian Cells, Proceedings of the National Academy of Sciences, vol.110, pp.7720-7745, 2013.

K. D. Tsakiri, J. T. Cronkhite, P. J. Kuan, C. Xing, G. Raghu et al., « Adult-Onset Pulmonary Fibrosis Caused by Mutations in Telomerase, Proceedings of the National Academy of Sciences, vol.104, issue.18, pp.7552-57, 2007.

E. T. Tsilou, N. Giri, S. Weinstein, C. Mueller, S. A. Savage et al., « Ocular and Orbital Manifestations of the Inherited Bone Marrow Failure Syndromes: Fanconi Anemia and Dyskeratosis Congenita, Ophthalmology, vol.117, issue.3, pp.615-637, 2010.

A. Tubbs and A. Nussenzweig, « Endogenous DNA Damage as a Source of Genomic Instability in Cancer, Cell, vol.168, issue.4, pp.644-56, 2017.

H. Tummala, A. Walne, L. Collopy, S. Cardoso, J. De-la-fuente et al., « Poly(A)-Specific Ribonuclease Deficiency Impacts Telomere Biology and Causes Dyskeratosis Congenita », Journal of Clinical Investigation, vol.125, issue.5, pp.2151-60, 2015.

N. J. Ullrich, L. B. Et, and . Gordon, « Hutchinson-Gilford Progeria Syndrome, Handbook of Clinical Neurology, vol.132, pp.249-64, 2015.

O. Uziel, J. A. Singer, V. Danicek, G. Sahar, E. Berkov et al., « Telomere Dynamics in Arteries and Mononuclear Cells of Diabetic Patients: Effect of Diabetes and of Glycemic Control », Experimental Gerontology, vol.42, issue.10, pp.971-78, 2007.

T. Uziel, « Requirement of the MRN Complex for ATM Activation by DNA Damage, The EMBO Journal, vol.22, issue.20, pp.5612-5633, 2003.

. Van-beneden, N. Amandine, and . Arnoult, « Telomeric RNA Expression: Length Matters ». Frontiers in Oncology, vol.3, 2013.

V. Ly, R. David, S. Low, T. K. Frölich, G. R. Bartolec et al., Telomere-Loop Dynamics in Chromosome End Protection, 2018.

J. L. Van-nostrand, C. A. Brady, H. Jung, D. R. Fuentes, M. M. Kozak et al., « Inappropriate P53 Activation during Development Induces Features of CHARGE Syndrome », Nature, vol.514, issue.7521, pp.228-260, 2014.

J. -. Vannier, V. Baptiste, . Pavicic-kaltenbrunner, I. R. Mark, H. Petalcorin et al., RTEL1 Dismantles T Loops and Counteracts Telomeric G4-DNA to Maintain Telomere Integrity, vol.149, pp.795-806, 2012.

A. S. Venteicher, S. E. Et, and . Artandi, « TCAB1: Driving Telomerase to Cajal Bodies », Cell Cycle, vol.8, issue.9, pp.1329-1360, 2009.

D. Vera, J. Eunsung, M. Et-mouradian, and . Maral, « The Role of Oxidative Stress in Parkinson's Disease », Journal of Parkinson&apos, vol.4, pp.461-491, 2013.

N. Viceconte, M. Dheur, E. Majerova, C. E. Pierreux, and J. Baurain, Nicolas van Baren, et Anabelle Decottignies. 2017. « Highly Aggressive Metastatic Melanoma Cells Unable to Maintain Telomere Length, vol.19, pp.2529-2572

S. Victorelli, F. João, and . Passos, « Telomeres and Cell Senescence -Size Matters Not ». EBioMedicine, vol.21, 2017.

J. Vignard, G. Mirey, B. Et, and . Salles, « Ionizing-Radiation Induced DNA Double-Strand Breaks: A Direct and Indirect Lighting Up, Radiotherapy and Oncology, vol.108, issue.3, pp.362-69, 2013.

B. Vilagos, M. Hoffmann, A. Souabni, Q. Sun, B. Werner et al., « Essential Role of EBF1 in the Generation and Function of Distinct Mature B Cell Types, The Journal of Experimental Medicine, vol.209, issue.4, pp.775-92, 2012.

J. Villartay, C. De, R. Poinsignon, D. De-chasseval, L. Buck et al., « Human and Animal Models of V(D)J Recombination Deficiency, Current Opinion in Immunology, vol.15, issue.5, pp.592-98, 2003.

S. Vimalraj, B. Arumugam, P. J. Miranda, and N. Selvamurugan, « Runx2: Structure, Function, and Phosphorylation in Osteoblast Differentiation, International Journal of Biological Macromolecules, vol.78, pp.202-210, 2015.

A. Virtanen, N. Henriksson, P. Nilsson, M. Et, and . Nissbeck, « Poly(A)-Specific Ribonuclease (PARN): An Allosterically Regulated, Processive and MRNA Cap-Interacting Deadenylase, Critical Reviews in Biochemistry and Molecular Biology, vol.48, issue.2, pp.192-209, 2013.

T. Vulliamy, R. Beswick, M. Kirwan, A. Marrone, M. Digweed et al., « Mutations in the Telomerase Component NHP2 Cause the Premature Ageing Syndrome Dyskeratosis Congenita, Proceedings of the National Academy of Sciences, vol.105, issue.23, pp.8073-78, 2008.

L. Wahba, K. Steven, D. Gore, and . Koshland, « The Homologous Recombination Machinery Modulates the Formation of RNA-DNA Hybrids and Associated Chromosome Instability, vol.2, 2013.

H. Walden and A. J. Deans, « The Fanconi Anemia DNA Repair Pathway: Structural and Functional Insights into a Complex Disorder, Annual Review of Biophysics, vol.43, issue.1, pp.257-78, 2014.

G. J. Walker, N. K. Et, and . Hayward, « Pathways to Melanoma Development: Lessons from the Mouse », Journal of Investigative Dermatology, vol.119, issue.4, pp.783-92, 2002.

J. R. Walker, A. Richard, . Corpina, J. Et, and . Goldberg, Structure of the Ku Heterodimer Bound to DNA and Its Implications for Double-Strand Break Repair, vol.412, 2001.

A. J. Walne, T. Vulliamy, R. Beswick, M. Kirwan, and E. I. Dokal, « TINF2 Mutations Result in Very Short Telomeres: Analysis of a Large Cohort of Patients with Dyskeratosis Congenita and Related Bone Marrow Failure Syndromes, Blood, vol.112, issue.9, p.3600, 2008.

A. J. Walne, T. Vulliamy, A. Marrone, R. Beswick, M. Kirwan et al., Fat-hia Al-Qurashi, Mahmoud Aljurf, et Inderjeet Dokal, Genetic Heterogeneity in Autosomal Recessive Dyskeratosis Congenita with One Subtype Due to Mutations in the Telomerase-Associated Protein NOP10, vol.16, pp.1619-1648, 2007.

R. Waltes, R. Kalb, M. Gatei, A. W. Kijas, M. Stumm et al., « Human RAD50 Deficiency in a Nijmegen Breakage Syndrome-like Disorder, The American Journal of Human Genetics, vol.84, issue.5, pp.605-621, 2009.

A. T. Wang, B. Sengerova, E. Cattell, T. Inagawa, J. M. Hartley et al., « Human SNM1A and XPF-ERCC1 Collaborate to Initiate DNA Interstrand Cross-Link Repair, Genes & Development, vol.25, issue.17, pp.1859-70, 2011.

. Wang, J. A. Feng, C. Stewart, Y. Kasbek, W. E. Zhao et al., « Human CST Has Independent Functions during Telomere Duplex Replication and C-Strand Fill-In », Cell Reports, vol.2, issue.5, pp.1096-1103, 2012.

H. Wang, L. Wang, H. Erdjument-bromage, M. Vidal, P. Tempst et al., « Role of Histone H2A Ubiquitination in Polycomb Silencing », Nature, vol.431, issue.7010, p.78, 2004.

H. Wang, B. Rosidi, R. Perrault, M. Wang, L. Zhang et al., « DNA Ligase III as a Candidate Component of Backup Pathways of Nonhomologous End Joining, Cancer Research, vol.65, issue.10, p.30, 2005.

J. C. Wang, « Cellular Roles of DNA Topoisomerases: A Molecular Perspective », Nature Reviews Molecular Cell Biology, vol.3, issue.6, pp.430-470, 2002.

J. Wang, Q. Sun, Y. Morita, H. Jiang, A. Groß et al., « A Differentiation Checkpoint Limits Hematopoietic Stem Cell Self-Renewal in Response to DNA Damage, Cell, vol.148, issue.5, pp.1001-1015, 2012.

J. L. Wang, C. Duboc, Q. Wu, T. Ochi, S. Liang et al., « Dissection of DNA Double-Strand-Break Repair Using Novel Single-Molecule Forceps », Nature Structural & Molecular Biology, vol.25, issue.6, pp.482-87, 2018.

Q. Wang, J. Liu, Z. Chen, K. Zheng, C. Chen et al., « G-Quadruplex Formation at the 3' End of Telomere DNA Inhibits Its Extension by Telomerase, Polymerase and Unwinding by Helicase, Nucleic Acids Research, vol.39, issue.14, pp.6229-6266, 2011.

S. Wang, D. Zickler, N. Kleckner, L. Et, and . Zhang, Meiotic Crossover Patterns: Obligatory Crossover, Interference and Homeostasis in a Single Process, vol.14, pp.305-319, 2015.
URL : https://hal.archives-ouvertes.fr/hal-01199660

T. Wang, V. Nandakumar, X. Jiang, L. Jones, A. Yang et al., « The Control of Hematopoietic Stem Cell Maintenance, Self-Renewal, and Differentiation by Mysm1-Mediated Epigenetic Regulation, Blood, vol.122, issue.16, pp.2812-2834, 2013.

Z. Wang, H. Zhang, J. Liu, A. Cheruiyot, J. Lee et al., Zhongsheng You, et Zhiguo Zhang. 2016. « USP51 Deubiquitylates H2AK13,15ub and Regulates DNA Damage Response, vol.30, pp.946-59

R. Watanabe, S. Kanno, A. Mohammadi-roushandeh, A. Ui, A. Et et al., « Nucleosome Remodelling, DNA Repair and Transcriptional Regulation Build Negative Feedback Loops in Cancer and Cellular Ageing, Philosophical Transactions of the Royal Society B: Biological Sciences, vol.372, 1731.

. Wawryk-gawda, P. Ewelina, M. Chyli?ska-wrzos, K. Lis-sochocka, K. Ch?apek et al., P53 Protein in Proliferation, Repair and Apoptosis of Cells, vol.251, p.33, 2014.

R. J. Wellinger, « In the End, What's the Problem?, Molecular Cell, vol.53, issue.6, pp.855-56, 2014.

N. Weng, L. Granger, and R. J. Hodes, Telomere Lengthening and Telomerase Activation during Human B Cell Differentiation, vol.94, pp.10827-10859, 1997.

R. D. Weren, J. Marjolijn, M. Ligtenberg, . Kets, . Richarda-m-de et al., « A Germline Homozygous Mutation in the Base-Excision Repair Gene NTHL1 Causes Adenomatous Polyposis and Colorectal Cancer », Nature Genetics, vol.47, issue.6, pp.668-71, 2015.

S. C. West, G. Miguel, Y. W. Blanco, J. Chan, S. Matos et al., Resolution of Recombination Intermediates: Mechanisms and Regulation, vol.80, 2015.

M. Wieczór, J. Et, and . Czub, « How Proteins Bind to DNA: Target Discrimination and Dynamic Sequence Search by the Telomeric Protein TRF1, Nucleic Acids Research, vol.45, issue.13, pp.7643-54, 2017.

P. Willeit, J. Willeit, A. Brandstatter, S. Ehrlenbach, A. Mayr et al., « Cellular Aging Reflected by Leukocyte Telomere Length Predicts Advanced Atherosclerosis and Cardiovascular Disease Risk, Arteriosclerosis, Thrombosis, and Vascular Biology, vol.30, issue.8, pp.1649-56, 2010.

G. J. Williams, M. Hammel, S. Kumar-radhakrishnan, D. Ramsden, S. P. Lees-miller et al., « Structural Insights into NHEJ: Building up an Integrated Picture of the Dynamic DSB Repair Super Complex, One Component and Interaction at a Time », DNA Repair, vol.17, 2014.

C. Wilms, I. Krikki, A. Hainzl, S. Kilo, M. Alupei et al., 2A-DUB/Mysm1 Regulates Epidermal Development in Part by Suppressing P53-Mediated Programs », International Journal of Molecular Sciences, vol.19, issue.3, p.687, 2018.

C. Wilms, C. M. Kroeger, A. V. Hainzl, I. Banik, C. Bruno et al., « MYSM1/2A-DUB Is an Epigenetic Regulator in Human Melanoma and Contributes to Tumor Cell Growth, Oncotarget, vol.8, issue.40, 2017.

B. T. Wilson, Z. Stark, R. E. Sutton, S. Danda, A. V. Ekbote et al., The Cockayne Syndrome Natural History (CoSyNH) Study: Clinical Findings in 102 Individuals and Recommendations for Care, vol.18, pp.483-93, 2016.

M. D. Wilson, S. Benlekbir, A. Fradet-turcotte, A. Sherker, J. Julien et al., « The Structural Basis of Modified Nucleosome Recognition by 53BP1 », Nature, vol.536, issue.7614, pp.100-103, 2016.

M. A. Wilson, Y. Kwon, Y. Xu, . Woo-hyun, P. Chung et al., « Pif1 Helicase and Pol? Promote Recombination-Coupled DNA Synthesis via Bubble Migration », Nature, vol.502, issue.7471, pp.393-96, 2013.

H. Won, V. Nandakumar, P. Yates, S. Sanchez, L. Jones et al., « Epigenetic Control of Dendritic Cell Development and Fate Determination of Common Myeloid Progenitor by Mysm1, Blood, vol.124, issue.17, pp.2647-56, 2014.

A. M. Wood, M. Jannie, C. A. Rendtlew-danielsen, E. L. Lucas, D. Rice et al., « TRF2 and Lamin A/C Interact to Facilitate the Functional Organization of Chromosome Ends », Nature Communications, vol.5, issue.1, 2014.

R. D. Wood, S. Et, and . Doublié, « DNA Polymerase ? (POLQ), Double-Strand Break Repair, and Cancer », DNA Repair, vol.44, pp.22-32, 2016.

W. E. Wright, V. M. Tesmer, K. E. Huffman, S. D. Levene, and J. W. Shay, « Normal Human Chromosomes Have Long G-Rich Telomeric Overhangs at One End, Genes & Development, vol.11, issue.21, pp.2801-2810, 1997.

W. Wright, W. Douglass, and . Heyer, « Rad54 Functions as a Heteroduplex DNA Pump Modulated by Its DNA Substrates and Rad51 during D Loop Formation », Molecular Cell, vol.53, issue.3, pp.420-452, 2014.

L. Wu and I. D. Hickson, « The Bloom's Syndrome Helicase Suppresses Crossing over during Homologous Recombination », Nature, vol.426, issue.6968, p.74, 2003.

W. Wu, H. Nishikawa, T. Fukuda, V. Vittal, M. Asano et al., « Interaction of BARD1 and HP1 Is Required for BRCA1 Retention at Sites of DNA Damage », Cancer Research, vol.75, issue.7, pp.1311-1332, 2015.

Y. Wu, S. Xiao, X. Et, and . Zhu, « MRE11-RAD50-NBS1 and ATM Function as Co-Mediators of TRF1 in Telomere Length Control », Nature Structural & Molecular Biology, vol.14, issue.9, p.40, 2007.

H. D. Wyatt, C. Rob, S. R. Laister, C. H. Martin, S. C. Arrowsmith et al., « The SMX DNA Repair Tri-Nuclease », Molecular Cell, vol.65, issue.5, pp.848-860, 2017.

H. D. Wyatt, S. Sarbajna, J. Matos, S. C. Et, and . West, « Coordinated Actions of SLX1-SLX4 and MUS81-EME1 for Holliday Junction Resolution in Human Cells, Molecular Cell, vol.52, issue.2, pp.234-281, 2013.

H. Xin, D. Liu, M. Wan, A. Safari, H. Kim et al., « TPP1 Is a Homologue of Ciliate TEBP-? and Interacts with POT1 to Recruit Telomerase », Nature, vol.445, issue.7127, pp.559-62, 2007.

Y. Xu, Y. Suzuki, K. Ito, and M. Komiyama, « Telomeric Repeat-Containing RNA Structure in Living Cells, Proceedings of the National Academy of Sciences, vol.107, issue.33, pp.14579-84, 2010.

Y. Xu and M. Komiyama, Structure, Function and Targeting of Human Telomere RNA, vol.57, p.105, 2012.

Y. Xu, M. K. Ayrapetov, C. Xu, O. Gursoy-yuzugullu, Y. Hu et al., « Histone H2A.Z Controls a Critical Chromatin Remodeling Step Required for DNA Double-Strand Break Repair », Molecular Cell, vol.48, issue.5, p.33, 2012.

Y. Xu, D. Brendan, and . Price, « Chromatin Dynamics and the Repair of DNA Double Strand Breaks, Cell Cycle, vol.10, issue.2, pp.261-67, 2011.

Y. Xu, Y. Sun, X. Jiang, M. K. Ayrapetov, P. Moskwa et al., « The P400 ATPase Regulates Nucleosome Stability and Chromatin Ubiquitination during DNA Repair, The Journal of Cell Biology, vol.191, issue.1, pp.31-43, 2010.

. Yamanaka, I. G. Kinrin, K. Minko, A. Takata, I. D. Kolbanovskiy et al., « Novel Enzymatic Function of DNA Polymerase ? in Translesion DNA Synthesis Past Major Groove DNA?Peptide and DNA?DNA Cross-Links, Chemical Research in Toxicology, vol.23, issue.3, pp.689-95, 2010.

G. H. Yanez, J. Sheik, A. M. Khan, I. M. Locovei, . Pedroso et al., « DNA Structure-Dependent Recruitment of Telomeric Proteins to Single-Stranded/Double-Stranded DNA Junctions, Biochemical and Biophysical Research Communications, vol.328, issue.1, pp.49-56, 2005.

J. Ye, J. R. Zheng-sheng, M. Donigian, D. Van-overbeek, Y. Loayza et al., TIN2 Binds TRF1 and TRF2 Simultaneously and Stabilizes the TRF2 Complex on Telomeres, vol.279, pp.47264-71, 2004.

S. Yehezkel, Y. Segev, E. Viegas-péquignot, K. Skorecki, S. Et et al., « Hypomethylation of Subtelomeric Regions in ICF Syndrome Is Associated with Abnormally Short Telomeres and Enhanced Transcription from Telomeric Regions, Human Molecular Genetics, vol.17, issue.18, pp.2776-89, 2008.

M. Yoneyama, N. Tochio, T. Umehara, S. Koshiba, M. Inoue et al., Structural and Functional Differences of SWIRM Domain Subtypes, vol.369, pp.222-260, 2007.

H. Yu, H. Pak, I. Hammond-martel, M. Ghram, A. Rodrigue et al., « Tumor Suppressor and Deubiquitinase BAP1 Promotes DNA Double-Strand Break Repair, Proceedings of the National Academy of Sciences, vol.111, issue.1, pp.285-90, 2014.


T. Yu, Y. Kao, J. Et, and . Lin, Telomeric Transcripts Stimulate Telomere Recombination to Suppress Senescence in Cells Lacking Telomerase, Proceedings of the National Academy of Sciences, vol.111, issue.9, pp.3377-82, 2014.

F. Yuan, L. Gu, S. Guo, C. Wang, G. Et et al., « Evidence for Involvement of HMGB1 Protein in Human DNA Mismatch Repair », Journal of Biological Chemistry, vol.279, issue.20, p.40, 2004.

T. Zglinicki, G. Von, J. Saretzki, F. Ladhoff, S. P. Di-fagagna et al., « Human Cell Senescence as a DNA Damage Response, Mechanisms of Ageing and Development, vol.126, issue.1, pp.111-128, 2005.

D. Zhang, K. Zaugg, T. W. Mak, and S. J. Elledge, « A Role for the Deubiquitinating Enzyme USP28 in Control of the DNA-Damage Response, Cell, vol.126, issue.3, pp.529-571, 2006.

F. Zhang, Y. Wen, and X. Guo, « CRISPR/Cas9 for Genome Editing: Progress, Implications and Challenges, Human Molecular Genetics, vol.23, issue.R1, pp.40-46, 2014.

S. Zhang, C. Pondarre, G. Pennarun, H. Labussiere-wallet, G. Vera et al., « A Nonsense Mutation in the DNA Repair Factor Hebo Causes Mild Bone Marrow Failure and Microcephaly, The Journal of Experimental Medicine, vol.213, issue.6, pp.1011-1039, 2016.

X. Zhang, S. Lin, W. E. Funk, L. Et, and . Hou, Environmental and Occupational Exposure to Chemicals and Telomere Length in Human Studies, vol.70, pp.743-792, 2013.

Y. Zhang, F. Yuan, S. R. Presnell, K. Tian, Y. Gao et al., « Reconstitution of 5?-Directed Human Mismatch Repair in a Purified System, Cell, vol.122, issue.5, pp.693-705, 2005.

. Zhao, J. B. Weixing, F. Steinfeld, X. Liang, D. G. Chen et al., BRCA1-BARD1 Promotes RAD51-Mediated Homologous DNA Pairing, vol.550, pp.360-65, 2017.

Y. Zhao, G. Lang, S. Ito, J. Bonnet, E. Metzger et al., A TFTC/STAGA Module Mediates Histone H2A and H2B, 2008.
URL : https://hal.archives-ouvertes.fr/inserm-00311242

, Coactivates Nuclear Receptors, and Counteracts Heterochromatin Silencing », Molecular Cell, vol.29, issue.1, pp.92-101

Y. Zheng, J. D. Tipton, P. M. Thomas, N. L. Kelleher, M. M. Et-steve et al., Site-Specific Human Histone H3 Methylation Stability: Fast K4me3 Turnover, vol.14, pp.2190-99, 2014.

F. Zhong, S. A. Savage, M. Shkreli, N. Giri, L. Jessop et al., Disruption of Telomerase Trafficking by TCAB1 Mutation Causes Dyskeratosis Congenita, vol.25, pp.11-16, 2011.

L. Zhou, L. Shi, H. Guo, X. Et, and . Yao, « MYSM-1 Suppresses Migration and Invasion in Renal Carcinoma through Inhibiting Epithelial-Mesenchymal Transition, Tumor Biology, vol.37, issue.12, pp.15583-91, 2016.

P. Zhu, W. Zhou, J. Wang, J. Puc, K. A. Ohgi et al., « A Histone H2A Deubiquitinase Complex Coordinating Histone Acetylation and H1 Dissociation in Transcriptional Regulation », Molecular Cell, vol.27, issue.4, pp.609-630, 2007.

Z. Zhu, W. Chung, E. Y. Shim, S. E. Lee, G. Et et al., « Sgs1 Helicase and Two Nucleases Dna2 and Exo1 Resect DNA Double-Strand Break Ends, Cell, vol.134, issue.6, pp.981-94, 2008.

M. Zimmermann, T. Kibe, S. Kabir, and . Et-titia-de-lange, TRF1 Negotiates TTAGGG Repeat-Associated Replication Problems by Recruiting the BLM Helicase and the TPP1/POT1 Repressor of ATR Signaling, vol.28, pp.2477-91, 2014.

L. Zou, « Sensing DNA Damage Through ATRIP Recognition of RPA-SsDNA Complexes, Science, vol.300, pp.1542-1590, 2003.