Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours Cancer-Prone Deep Insight Portal 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 6, Number 3, Jul-Sep 2002 Previous Issue / Next Issue Genes CTNNB1 (Catenin, beta-1) (3p22-p21.3). Brigitte Debuire, Antoinette Lemoine, Raphael Saffroy. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 392-402. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/CTNNB1ID71.html EXT1 (8q24.11-q24.13) - updated. Judith V.M.G. Bovée. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 403-408. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/EXT1ID212.html EXT2 (11p11-p12) - updated. Judith V.M.G. Bovée. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 409-415. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/EXT2ID213.html GPHN (Gephyrin) (14q23.3). Brigitte David-Watine. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3):416-420. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/GPHNID317.html MLN51 (17q11-17q21.3). Sébastien Degot. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 421-424. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/MLN51ID241.html NSD1 (Nuclear receptor-binding, su(var), enhancer-of-zeste and trithorax domain- containing protein 1) (5q35). Lyndal Kearney. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 425-429. [Full Text] [PDF] Atlas Genet Cytogenet Oncol Haematol 2002; 3 I URL : http://AtlasGeneticsOncology.org/Genes/NSD1ID356.html NUP98 (nucleoporin 98 kDa) (11p15) - updated. Lyndal Kearney. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 430-437. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/NUP98.html TPR (Translocated promoter region) (1q25). Brigitte David-Watine. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3):438-442. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/TPRID282.html BCL11A (B-cell lymphoma/leukemia 11A) (2p13-15). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 443-447. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/BCL11AID391.html RECQL5 (17q25.2-25.3). Mounira Amor-Guéret. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 448-451. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/RECQL5ID286.html SDHB (succinate dehydrogenase complex II, subunit B, iron-sulfur protein or IP) (1p36.1- p35). Anne-Paule Gimenez-Roqueplo. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 452-456. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/SDHBID388.html SDHC (succinate dehydrogenase complex II, subunit C, integral membrane protein) (1q21). Anne-Paule Gimenez-Roqueplo. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 457-460. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/SDHCID389.html Glypican-3 (GPC3) (Xq26.1). Daniel Sinnett. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 461-467. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/GPC3ID156.html Leukaemias t(5;11)(q35;p15.5). Lyndal Kearney. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 468-472. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t0511q35p15ID1209.html t(1;19)(p13;p13.1). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2002; 3 II Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 473-474. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t0119p13p13ID1230.html t(11;14)(q23;q24). Mariko Eguchi. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 475-478. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t1114q23q24ID1198.html Classification of acute myeloid leukemias. Georges Flandrin. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 479-487. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/ClassifAMLID1238.html Classification of myelodysplasic syndromes. Georges Flandrin. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 488-497. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/ClassifMDSID1239.html M0 acute non lymphocytic leukemia (M0-ANLL) - updated. Marie Christine Bene. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 498-499. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/M0ANLLID1057.html t(1;3)(p36;q21) - updated. Jay L Hess. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 500-503. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t0103.html t(1;3)(p36;p21). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 504-506. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t0103p36p21ID1237.html t(1;16)(q11;q11). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 507-508. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t0116q11q11ID1247.html +5 or trisomy 5. Edmond Ma, Thomas Wan. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 509-512. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/tri5ID1255.html t(Y;1)(q12;q12). Thomas Wan and Edmond Ma. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3):513-515. [Full Text] [PDF] Atlas Genet Cytogenet Oncol Haematol 2002; 3 III URL : http://AtlasGeneticsOncology.org/Anomalies/tY1q12q12ID1160.html Solid Tumours Bone: Chondrosarcoma - updated. Judith VMG Bovée. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 516-523. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Tumors/chondrosarcID5063.html Cancer Prone Diseases Hereditary multiple exostoses (HME) - updated. Judith VMG Bovée. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 524-529. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Kprones/HeredMultExostosID10061.html Costello syndrome. Nicole Philip. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 530-532. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Kprones/CostelloID10075.html Deep Insights Functional organization of the genome: chromatin. Patricia Ridgway, Christèle Maison, Geneviève Almouzni. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 533-546. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Deep/ChromatinID20024.htm.html Case Reports Pentasomy 21 as a sole abnormality in an atypical CML patient in chronic phase. Shambhu K Roy, Sonal R Bakshi, Shailesh J Patel, Pina J Trivedi, Manisha M Brahmbhatt, Shwetal M Rawal, Pankaj M Shah, Devendra D Patel. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 547-550. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/21CRRoyID100004.html Educational Items Immunoglobulin Genes. Marie-Paule Lefranc, Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3):551-559. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Educ/PolyIgEng.html Chromatin. Patricia Ridgway, Christèle Maison, Geneviève Almouzni. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 560-568. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Educ/ChromatinEducEng.html Selection. Atlas Genet Cytogenet Oncol Haematol 2002; 3 IV Robert Kalmes. Atlas Genet Cytogenet Oncol Haematol 2002; 6 (3): 569-582. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Educ/SelectionID30040ES.html © 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 Solid Tumours Cancer-Prone Deep Insight Portal Teaching For comments and suggestions or contributions, please contact us [email protected]. Atlas Genet Cytogenet Oncol Haematol 2002; 3 V Atlas of Genetics and Cytogenetics in Oncology and Haematology CTNNB1 (Catenin, beta-1) Identity Other Cadherin-associated protein, beta names Hugo CTNNB1 Location 3p22-p21.3 CTNNB1 (2p22) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact [email protected] DNA/RNA Atlas Genet Cytogenet Oncol Haematol 2002; 3 -392- Description The gene encompasses 23.2kb of DNA ; 16 exons (the first is non- coding). Transcription 3362 nucleotides mRNA ; 2343 bp open reading frame. Alternative splicing within exon 16 produces a splice variant that is 159 bp shorter in the 3' untranslated region. Protein Atlas Genet Cytogenet Oncol Haematol 2002; 3 -393- Description 781 amino acids ; 92 kDa protein. Can be phosphorylated ; contains from N-term to C-term, a phosphorylation site by the serine-threonine glycogen synthase kinase -3b(GSK-3b), an a-catenin binding site, 13 armadillo repeats and a transactivating domain. Expression Widely expressed. Localisation Cytoplasm and nucleus Function Important functions in the E-cadherin-mediated cell-cell adhesion system and also as a dowstream signaling molecule in the Wnt pathway. Cytoplasmic accumulation of b catenin allows it to translocate to the nucleus to form complexes with transcription factors of the T cell factor-lymphoid enhancer factor (Tcf-Lef) family. b-catenin is assumed to transactivate mostly unknown target genes, which may stimulate cell proliferation (acts as an oncogene) or inhibit apoptosis. The b-catenin level in the cell is regulated by its association with the adenomatous polyposis coli ( APC) tumor suppressor protein, axin and GSK-3b. Phosphorylation of b-catenin by the APC-axin-GSK-3b complex leads to its degradation by the ubiquitin-proteasome system. Homology The b-catenin protein shares 70 % amino acid identity with both plakoglobin (intracellular junction in desmosomes)