Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Tumors Cancer prone Deep Insight Case Reports Portal Journals Teaching X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA Atlas Journal Atlas Journal versus Atlas Database: the accumulation of the issues of the Journal constitutes the body of the Database/Text-Book. TABLE OF CONTENTS Volume 13, Number 7, July 2009 Previous Issue / Next Issue Genes ABL1 (v-abl Abelson murine leukemia viral oncogene homolog 1) (9q34.1) - updated. Ali G Turhan. Atlas Genet Cytogenet Oncol Haematol 2009; 13 (7): 757-766. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/ABL.html BCL2L12 (BCL2-like 12 (proline-rich)) (19q13.3). Christos Kontos, Hellinida Thomadaki, Andreas Scorilas. Atlas Genet Cytogenet Oncol Haematol 2009; 13 (7): 767-771. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/BCL2L12ID773ch19q13.html BCR (Breakpoint cluster region) (22q11.2) - updated. Ali G Turhan. Atlas Genet Cytogenet Oncol Haematol 2009; 13 (7): 772-779. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/BCR.html ENAH (enabled homolog (Drosophila)) (1q42.12). Paola Nisticò, Francesca Di Modugno. Atlas Genet Cytogenet Oncol Haematol 2009; 13 (7): 780-785. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/ENAHID44148ch1q42.html FGFR2 (fibroblast growth factor receptor 2) (10q26.13). Masaru Katoh. Atlas Genet Cytogenet Oncol Haematol 2009; 13 (7): 786-799. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/FGFR2ID40570ch10q26.html MAPK6 (mitogen-activated protein kinase 6) (15q21.2). Sylvain Meloche. Atlas Genet Cytogenet Oncol Haematol 2009; 13 (7): 800-804. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/MAPK6ID43349ch15q21.html MIRN125A (microRNA 125a) (19q13.33). Serkan Tuna, Ayse Elif Erson. Atlas Genet Cytogenet Oncol Haematol 2009; 13 (7): 805-808. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/MIRN125AID44325ch19q13.html MIRN125B1 (microRNA 125b-1) (11q24.1). Serkan Tuna, Ayse Elif Erson. Atlas Genet Cytogenet Oncol Haematol 2009; 13 (7): 809-813. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/MIRN125B1ID44326ch11q24.html MIRN125B2 (microRNA 125b-2) (21q21.1). Serkan Tuna, Ayse Elif Erson. Atlas Genet Cytogenet Oncol Haematol 2009; 13 (7): 814-818. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/MIRN125B2ID44327ch21q21.html RAC2 (ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Atlas Genet Cytogenet Oncol Haematol 2009; 7 I Rac2)) (22q13.1). Teresa Gómez del Pulgar, Juan Carlos Lacal. Atlas Genet Cytogenet Oncol Haematol 2009; 13 (7): 819-826. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/RAC2ID42021ch22q13.html SORBS2 (sorbin and SH3 domain containing 2) (4q35.1). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2009; 13 (7): 827-832. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/SORBS2ID693ch4q35.html TIAM1 (T-cell lymphoma invasion and metastasis 1) (21q22.11). Michèle J Hoffmann, Rainer Engers. Atlas Genet Cytogenet Oncol Haematol 2009; 13 (7): 833-840. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/TIAM1ID42557ch21q22.html TNFRSF11B (tumor necrosis factor receptor superfamily, member 11b) (8q24.12). Maria Grazia Di Iasio, Federica Corallini, Paola Secchiero, Silvano Capitani. Atlas Genet Cytogenet Oncol Haematol 2009; 13 (7): 841-851. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/TNFRSF11BID42610ch8q24.html Leukaemias t(6;14)(q25-27;q32. Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2009; 13 (7): 852-853. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Anomalies/t0614q25q32ID1324.html t(8;11)(p12;p15). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2009; 13 (7): 854. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Anomalies/t0811p12p15ID1521.html t(8;12)(p12;q15). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2009; 13 (7): 855-856. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Anomalies/t0812p12q15ID1201.html t(14;15)(q32;q11-13). Silvia Rasi, Gianluca Gaidano. Atlas Genet Cytogenet Oncol Haematol 2009; 13 (7): 857-858. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Anomalies/t1415q32q12ID1349.html Hepatosplenic T-cell lymphoma (HSTCL). Antonio Cuneo, Francesco Cavazzini, Gian Matteo Rigolin. Atlas Genet Cytogenet Oncol Haematol 2009; 13 (7): 859-860. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Anomalies/HepatoTlymphoID2099.html Intestinal T-cell lymphoma. Antonio Cuneo, Francesco Cavazzini, Gian Matteo Rigolin. Atlas Genet Cytogenet Oncol Haematol 2009; 13 (7): 861-862. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Anomalies/IntestinalTlymphoID2101.html Solid Tumours Bone: Enchondroma. Twinkal C Pansuriya, Judith VMG Bovée. Atlas Genet Cytogenet Oncol Haematol 2009; 13 (7): 863-868. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Tumors/EnchondromaID5333.html Cancer Prone Diseases Enchondromatosis. Twinkal C Pansuriya, Judith VMG Bovée. Atlas Genet Cytogenet Oncol Haematol 2009; 13 (7): 869-872. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Kprones/EnchondromatosisID10151.html Familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML). Paula G Heller. Atlas Genet Cytogenet Oncol Haematol 2009; 7 II Atlas Genet Cytogenet Oncol Haematol 2009; 13 (7): 873-878. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Kprones/FamPlateletDisAMLID10079.html Deep Insights The HLA-G non classical MHC class I molecule is expressed in cancer with poor prognosis. Implications in tumour escape from immune system and clinical applications. Catherine Menier, Nathalie Rouas-Freiss, Edgardo D Carosella. Atlas Genet Cytogenet Oncol Haematol 2009; 13 (7): 879-900. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Deep/HLAinCancerID20070.html Case Reports Educational Items © Atlas of Genetics and Cytogenetics in Oncology and Haematology X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA Home Genes Leukemias Tumors Cancer prone Deep Insight Case Reports Portal Journals Teaching For comments and suggestions or contributions, please contact us [email protected]. Atlas Genet Cytogenet Oncol Haematol 2009; 7 III Atlas of Genetics and Cytogenetics in Oncology and Haematology ABL1 (v-abl Abelson murine leukemia viral oncogene homolog 1) Identity Other names ABL HGNC (Hugo) ABL1 Location 9q34.1 Location_base_pair Starts at 132700652 and ends at 132752879 bp from pter ( according to hg18- Mar_2006) [Mapping] Local_order CAN is more telomeric, TAN1 even more in 9q34.3. DNA/RNA DNA diagram Description 12 exons; 230 kb. Transcription Alternate splicing: 1a and 1b are 5' alternative exons; mRNA of 6 and 7 kb (with 1a and 1b respectively), giving rise to 2 protein of 145 kDa. Protein Protein diagram Description 1130-1143 amino acids; 4 domains: of which are SH (SRC homology) domains; NH2- term -- domain 1: SH3 (where can bind the binding protein BP1, to inhibit SH1 activation) and SH2 (with high affinity towards BCR first exon) -- domain 2: SH1 (with a self-phosphorylable tyrosine) -- 'domain' 3: nuclear localization domain (DNA binding, but not during mitosis) -- domain 4: actin binding (cytoskeleton) --COOH-term; note: 1b (but not the 1a alternative) myristylable allowing anchorage to the membrane. Normal ABL has a tri-dimensional structure which is tightly preserved in a closed, inactive conformation order to prevent oncogenic activation. The maintenance of this inactive conformation is possible by: 1- the "latching" of the myristilated NH2-terminal sequence which is directly linked to a myristilation recognition sequence on the c-lobe of the SH1 kinase domain; 2-The close contact between SH3 and SH2 domain 3- The interactions between SH3 domain and the C-lobe of the kinase domain. These interactions clamp the structure and prevent the kinase to switch to an active conformation, a process which requires the phosphorylation of Tyr 412 residue and the "unlatching" of the myristoyl group from the C-Lobe of the kinase domain. The attachment of proline-rich SH2 and SH3 ligands leads to the complete switch of the protein to an open, active conformation of the kinase. The NH2-terminal myristilation (autoregulatory role) is deleted during the t(9;22) translocation. Expression Ubiquitously expressed, c-ABL K/O phenotype is lethal. Localisation c-abl is localized to the nucleus, plasma membrane and actin cytoskeleton. Function c-ABL exhibit a permanent nuclear and cytoplasmic shuttling activity, driven by 3 Atlas Genet Cytogenet Oncol Haematol 2009; 6 757 nuclear localisation signals (NLS) and a single nuclear export signal (NES) close to the C-terminal region. Recent data suggest that nuclear and cytoplasmic ABL may have different functions. 1- Nuclear c-ABL plays a major role in the regulation of cell death after DNA damage. All DNA damage inducing agents activate nuclear c-ABL kinase in a ATM- dependent manner and in the presence of the p53-homolog p73 protein. The latter is physically associated with c-ABL after DNA damage through the SH3 domain of c-ABL. DNA damage also activates simultanously p53 pathway, leading to the activation of Rb which induces growth arrest and protects cells from apoptosis. The exacts mechanisms of apoptosis induced by c-ABL are unknown. The translocation of cytoplasmic c-ABL to the nucleus has been shown to be due to its release from 14-3-3 proteins to which c-