V. Gelsi-boyer, V. Trouplin, A. J. Bonansea, J. Cervera, N. Carbuccia et al., in myelodysplastic syndromes and chronic myelomonocytic leukaemia, British Journal of Haematology, vol.279, issue.Suppl, pp.788-800, 2009.
DOI : 10.1111/j.1365-2141.2009.07697.x

L. Aravind and L. Iyer, The HARE-HTH and associated domains, Cell Cycle, vol.78, issue.1, pp.119-131
DOI : 10.1371/journal.pone.0009490

Y. Cho, E. Kim, U. Park, H. Sin, and S. Um, Additional Sex Comb-like 1 (ASXL1), in Cooperation with SRC-1, Acts as a Ligand-dependent Coactivator for Retinoic Acid Receptor, Journal of Biological Chemistry, vol.281, issue.26, pp.17588-17598, 2006.
DOI : 10.1074/jbc.M512616200

J. Boultwood, J. Perry, A. Pellagatti, M. Fernandez-mercado, C. Fernandez-santamaria et al., Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia, Leukemia, vol.24, issue.5, pp.1062-1065, 2010.
DOI : 10.1074/jbc.M109.065862

C. Beisel and R. Paro, Silencing chromatin: comparing modes and mechanisms, Nature Reviews Genetics, vol.438, issue.2, pp.123-135, 2011.
DOI : 10.1038/nrg2932

O. Abdel-wahab, M. Adli, L. Saunders, J. Gao, A. Shih et al., ASXL1 Mutations Promote Myeloid Transformation Through Inhibition of PRC2-Mediated Gene Repression, Session: 603 Oncogenes and Tumor Suppressors: From Genomic-based Discovery to Functional Validation, 2011.

T. Ernst, A. Chase, J. Score, C. Hidalgo-curtis, C. Bryant et al., Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders, Nature Genetics, vol.8, issue.8, pp.722-726, 2010.
DOI : 10.1016/j.molcel.2008.10.016

G. Nikoloski, S. Langemeijer, R. Kuiper, R. Knops, M. Massop et al., Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes, Nature Genetics, vol.647, issue.8, pp.665-667, 2010.
DOI : 10.1038/ng.414

M. Brecqueville, N. Cervera, A. J. Rey, J. Carbucia, N. Chaffanet et al., Mutations and deletions of the SUZ12 polycomb gene in myeloproliferative neoplasms, Blood Cancer Journal, vol.279, issue.8, p.33, 2011.
DOI : 10.1038/bcj.2011.31

J. Score, C. Hidalgo-curtis, A. Jones, N. Winkelmann, A. Skinner et al., Inactivation of polycomb repressive complex 2 components in myeloproliferative and myelodysplastic/myeloproliferative neoplasms, Blood, vol.119, issue.5, pp.1208-1213, 2012.
DOI : 10.1182/blood-2011-07-367243

S. Lee, Y. Cho, J. Na, U. Park, M. Kang et al., ASXL1 Represses Retinoic Acid Receptor-mediated Transcription through Associating with HP1 and LSD1, Journal of Biological Chemistry, vol.285, issue.1, pp.18-29, 2010.
DOI : 10.1074/jbc.M109.065862

M. Dawson, A. Bannister, B. Gottgens, S. Foster, T. Bartke et al., JAK2 phosphorylates histone H3Y41 and excludes HP1?? from chromatin, Nature, vol.412, issue.7265, pp.819-822, 2009.
DOI : 10.1038/nature08448

H. Baskind, N. L. Ma, Q. Patel, M. Geenen, D. Wang et al., Functional Conservation of Asxl2, a Murine Homolog for the Drosophila Enhancer of Trithorax and Polycomb Group Gene Asx, PLoS ONE, vol.14, issue.4, p.4750, 2009.
DOI : 10.1371/journal.pone.0004750.t002

C. Farber, B. Bennett, L. Orozco, W. Zou, A. Lira et al., Mouse Genome-Wide Association and Systems Genetics Identify Asxl2 As a Regulator of Bone Mineral Density and Osteoclastogenesis, PLoS Genetics, vol.24, issue.4, p.1002038, 2011.
DOI : 10.1371/journal.pgen.1002038.s006

U. Park, S. Yoon, T. Park, E. Kim, and S. Um, Additional Sex Comb-like (ASXL) Proteins 1 and 2 Play Opposite Roles in Adipogenesis via Reciprocal Regulation of Peroxisome Proliferator-activated Receptor ??, Journal of Biological Chemistry, vol.286, issue.2, pp.1354-1363, 2011.
DOI : 10.1074/jbc.M110.177816

M. Katoh and M. Katoh, Identification and characterization of human CXXC10 gene in silico, Int J Oncol, vol.25, pp.1193-1199, 2004.

O. Abdel-wahab, A. Pardanani, J. Patel, M. Wadleigh, T. Lasho et al., Concomitant analysis of EZH2 and ASXL1 mutations in myelofibrosis, chronic myelomonocytic leukemia and blast-phase myeloproliferative neoplasms, Leukemia, vol.25, issue.7, pp.1200-1202, 2011.
DOI : 10.1182/blood-2010-06-293415

O. Abdel-wahab, O. Kilpivaara, J. Patel, L. Busque, and R. Levine, The most commonly reported variant in ASXL1 (c.1934dupG;p.Gly646TrpfsX12) is not a somatic alteration, Leukemia, vol.70, issue.9, pp.1656-1657, 2010.
DOI : 10.1038/leu.2010.144

N. Carbuccia, V. Trouplin, V. Gelsi-boyer, A. Murati, J. Rocquain et al., Mutual exclusion of ASXL1 and NPM1 mutations in a series of acute myeloid leukemias, Leukemia, vol.24, issue.2, pp.469-473, 2010.
DOI : 10.1056/NEJMoa041974

R. Bejar, K. Stevenson, O. Abdel-wahab, R. Bejar, K. Stevenson et al., Clinical Effect of Point Mutations in Myelodysplastic Syndromes, New England Journal of Medicine, vol.364, issue.26, pp.2496-2506, 2011.
DOI : 10.1056/NEJMoa1013343

J. Rocquain, N. Carbuccia, V. Trouplin, S. Raynaud, A. Murati et al., Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemias, BMC Cancer, vol.115, issue.1, pp.401-407, 2010.
DOI : 10.1182/blood-2009-07-230698

Y. Sugimoto, H. Muramatsu, H. Makishima, C. Prince, A. Jankowska et al., Spectrum of molecular defects in juvenile myelomonocytic leukaemia includes ASXL1 mutations, Br J Haematol, vol.150, pp.83-87, 2010.

H. Szpurka, A. Jankowska, H. Makishima, J. Bodo, N. Bejanyan et al., Spectrum of mutations in RARS-T patients includes TET2 and ASXL1 mutations, Leukemia Research, vol.34, issue.8, pp.969-973, 2010.
DOI : 10.1016/j.leukres.2010.02.033

O. Abdel-wahab, T. Manshouri, J. Patel, K. Harris, J. Yao et al., Genetic Analysis of Transforming Events That Convert Chronic Myeloproliferative Neoplasms to Leukemias, Cancer Research, vol.70, issue.2, pp.447-452, 2010.
DOI : 10.1158/0008-5472.CAN-09-3783

M. Brecqueville, J. Rey, F. Bertucci, E. Coppin, P. Finetti et al., Mutation analysis of ASXL1, Genes Chromosome Cancer, pp.12-14, 2012.

J. Boultwood, J. Perry, R. Zaman, C. Fernandez-santamaria, T. Littlewood et al., High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression, Leukemia, vol.16, issue.6, pp.1139-1145, 2010.
DOI : 10.1073/pnas.95.21.12410

N. Carbuccia, A. Murati, V. Trouplin, M. Brecqueville, J. Adélaïde et al., Mutations of ASXL1 gene in myeloproliferative neoplasms, Leukemia, vol.23, issue.11, pp.2183-2186, 2009.
DOI : 10.1038/ng.349

W. Chou, H. Huang, H. Hou, C. Chen, J. Tang et al., Distinct clinical and biological features of de novo acute myeloid leukemia with additional sex comb-like 1 (ASXL1) mutations, Blood, vol.116, issue.20, pp.4086-4094, 2011.
DOI : 10.1182/blood-2010-05-283291

V. Gelsi-boyer, V. Trouplin, J. Roquain, J. Adélaïde, N. Carbuccia et al., ASXL1 mutation is associated with poor prognosis and acute transformation in chronic myelomonocytic leukaemia, British Journal of Haematology, vol.114, issue.4, pp.1365-375, 2010.
DOI : 10.1111/j.1365-2141.2010.08381.x

URL : https://hal.archives-ouvertes.fr/hal-00580698

V. Grossmann, A. Kohlmann, C. Eder, C. Haferlach, W. Kern et al., Molecular profiling of chronic myelomonocytic leukemia reveals diverse mutations in >80% of patients with TET2 and EZH2 being of high prognostic relevance, Leukemia, vol.25, issue.5, pp.877-879, 2012.
DOI : 10.1038/ng.518

A. Jankowska, H. Makishima, R. Tiu, H. Szpurka, Y. Huang et al., Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A, Blood, vol.118, issue.14, pp.3932-3941, 2011.
DOI : 10.1182/blood-2010-10-311019

M. Pratcorona, S. Abbas, M. Sanders, J. Koenders, F. Kavelaars et al., Acquired mutations in

. Gelsi-boyer, http://www.jhoonline.org/content/5/1/12 ASXL1 in acute myeloid leukemia: prevalence and prognostic value, Journal of Hematology & Oncology Haematologica, vol.5, issue.97, pp.12388-39210, 2012.

C. Ricci, E. Fermo, S. Corti, M. Molteni, A. Faricciotti et al., RAS Mutations Contribute to Evolution of Chronic Myelomonocytic Leukemia to the Proliferative Variant, Clinical Cancer Research, vol.16, issue.8, pp.2246-2256, 2010.
DOI : 10.1158/1078-0432.CCR-09-2112

Y. Shen, Y. Zhu, X. Fan, J. Shi, Q. Wang et al., Gene mutation patterns and their prognostic impact in a cohort of 1185 patients with acute myeloid leukemia, Blood, vol.118, issue.20, pp.5593-5603, 2011.
DOI : 10.1182/blood-2011-03-343988

B. Stein, D. Williams, O. Keefe, C. Rogers, O. Ingersoll et al., Disruption of the ASXL1 gene is frequent in primary, post-essential thrombocytosis and post-polycythemia vera myelofibrosis, but not essential thrombocytosis or polycythemia vera: analysis of molecular genetics and clinical phenotypes, Haematologica, vol.96, issue.10, pp.1462-1469, 2011.
DOI : 10.3324/haematol.2011.045591

F. Thol, I. Friesen, F. Damm, H. Yun, E. Weissinger et al., Mutations in Patients With Myelodysplastic Syndromes, Journal of Clinical Oncology, vol.29, issue.18, pp.2499-2506, 2011.
DOI : 10.1200/JCO.2010.33.4938

P. Guglielmelli, F. Biamonte, J. Score, C. Hidalgo-curtis, F. Cervantes et al., EZH2 mutational status predicts poor survival in myelofibrosis, Blood, vol.118, issue.19, pp.25227-5234, 2011.
DOI : 10.1182/blood-2011-06-363424

K. Metzeler, H. Becker, K. Maharry, M. Radmacher, J. Kohlschmidt et al., ASXL1 mutations identify a high-risk subgroup of older patients with primary cytogenetically normal AML within the ELN Favorable genetic category, Blood, vol.118, issue.26, pp.6920-6929, 2011.
DOI : 10.1182/blood-2011-08-368225

Q. An, S. Wright, A. Moorman, H. Parker, M. Griffiths et al., Heterogeneous breakpoints in patients with acute lymphoblastic leukemia and the dic(9;20)(p11??13;q11) show recurrent involvement of genes at 20q11.21, Haematologica, vol.94, issue.8, pp.1164-1169, 2009.
DOI : 10.3324/haematol.2008.002808

A. Hoischen, B. Van-bon, B. Rodriguez-santiago, C. Gilissen, L. Vissers et al., De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome, Nature Genetics, vol.140, issue.8, pp.729-731, 2011.
DOI : 10.1016/j.ajhg.2010.06.002

V. Quesada, L. Conde, N. Villamor, G. Ordóñez, P. Jares et al., Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia, Nature Genetics, vol.177, issue.1, pp.47-52, 2011.
DOI : 10.2307/2529177

J. Zhang, L. Ding, L. Holmfeldt, G. Wu, S. Heatley et al., The genetic basis of early T-cell precursor acute lymphoblastic leukaemia, Nature, vol.19, issue.7380, pp.157-163, 2012.
DOI : 10.1038/nature10725

T. Imamura, N. Kakazu, S. Hibi, A. Morimoto, Y. Fukushima et al., Rearrangement of theMOZ gene in pediatric therapy-related myelodysplastic syndrome with a novel chromosomal translocation t(2;8)(p23;p11), Genes, Chromosomes and Cancer, vol.65, issue.4, pp.413-419, 2003.
DOI : 10.1002/gcc.10172

S. Nakahata, Y. Saito, M. Hamasaki, T. Hidaka, Y. Arai et al., Alteration of enhancer of polycomb 1 at 10p11.2 is one of the genetic events leading to development of adult T-cell leukemia/lymphoma, Genes, Chromosomes and Cancer, vol.21, issue.Spec No 1, pp.768-776, 2009.
DOI : 10.1002/gcc.20681

C. Fisher, N. Pineault, C. Brookes, C. Helgason, H. Ohta et al., Loss-of-function Additional sex combs like 1 mutations disrupt hematopoiesis but do not cause severe myelodysplasia or leukemia, Blood, vol.115, issue.1, pp.38-46, 2010.
DOI : 10.1182/blood-2009-07-230698

C. Ricci, O. Spinelli, S. Salmoiraghi, G. Finazzi, A. Carobbio et al., ASXL1 mutations in primary and secondary myelofibrosis, British Journal of Haematology, vol.29, issue.3, pp.404-407, 2012.
DOI : 10.1111/j.1365-2141.2011.08865.x

N. Gangat, D. Caramazza, R. Vaidya, G. George, K. Begna et al., DIPSS Plus: A Refined Dynamic International Prognostic Scoring System for Primary Myelofibrosis That Incorporates Prognostic Information From Karyotype, Platelet Count, and Transfusion Status, Journal of Clinical Oncology, vol.29, issue.4, pp.392-397, 2011.
DOI : 10.1200/JCO.2010.32.2446

P. Guglielmelli, F. Biamonte, J. Score, C. Hidalgo-curtis, F. Cervantes et al., Prognostic Impact of EZH2 and ASXL1 Mutation in Myelofibrosis, Myeloproliferative Syndromes: Poster II, p.634, 2011.

S. Schnittger, C. Eder, T. Alpermann, A. Fasan, V. Grossmann et al., ASXL1 exon 12 Mutations Are Frequent in AML with Intermediate Risk Karyotype and Are Independently Associated with An Extremely Poor Outcome, Session: 611. Leukemias -Biology, Cytogenetics and Molecular Markers in Diagnosis and Prognosis: Prognostic Biomarkers in Adult AML, 2011.

V. Rockova, S. Abbas, B. Wouters, C. Erpelinck, H. Beverloo et al., Risk stratification of intermediate-risk acute myeloid leukemia: integrative analysis of a multitude of gene mutation and gene expression markers, Blood, vol.118, issue.4, pp.1069-1076, 2011.
DOI : 10.1182/blood-2011-02-334748

H. Dohner, E. Estey, S. Amadori, F. Appelbaum, T. Büchner et al., Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European LeukemiaNet, Blood, vol.115, issue.3, pp.453-474, 2010.
DOI : 10.1182/blood-2009-07-235358

. Gelsi-boyer, Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases, Journal of Hematology & Oncology, vol.5, issue.1, 2012.
DOI : 10.1182/blood-2009-07-235358

URL : https://hal.archives-ouvertes.fr/inserm-00698796