VolumeVolume 15 1 -- NumberNumber 51 May -May Sept 2011ember 1997 Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Scope The Atlas of Genetics and Cytogenetics in Oncology and Haematology is a peer reviewed on-line journal in open access, devoted to genes, cytogenetics, and clinical entities in cancer, and cancer-prone diseases. It presents structured review articles ("cards") on genes, leukaemias, solid tumours, cancer-prone diseases, more traditional review articles on these and also on surrounding topics ("deep insights"), case reports in hematology, and educational items in the various related topics for students in Medicine and in Sciences. Editorial correspondance Jean-Loup Huret Genetics, Department of Medical Information, University Hospital F-86021 Poitiers, France tel +33 5 49 44 45 46 or +33 5 49 45 47 67 [email protected] or [email protected] Staff Mohammad Ahmad, Mélanie Arsaban, Houa Delabrousse, Marie-Christine Jacquemot-Perbal, Maureen Labarussias, Vanessa Le Berre, Anne Malo, Catherine Morel-Pair, Laurent Rassinoux, Sylvie Yau Chun Wan - Senon, Alain Zasadzinski. Philippe Dessen is the Database Director, and Alain Bernheim the Chairman of the on-line version (Gustave Roussy Institute – Villejuif – France). The Atlas of Genetics and Cytogenetics in Oncology and Haematology (ISSN 1768-3262) is published 12 times a year by ARMGHM, a non profit organisation, and by the INstitute for Scientific and Technical Information of the French National Center for Scientific Research (INIST-CNRS) since 2008. The Atlas is hosted by INIST-CNRS (http://www.inist.fr) http://AtlasGeneticsOncology.org © ATLAS - ISSN 1768-3262 The PDF version of the Atlas of Genetics and Cytogenetics in Oncology and Haematology is a reissue of the original articles published in collaboration with the Institute for Scientific and Technical Information (INstitut de l’Information Scientifique et Technique - INIST) of the French National Center for Scientific Research (CNRS) on its electronic publishing platform I-Revues. Online and PDF versions of the Atlas of Genetics and Cytogenetics in Oncology and Haematology are hosted by INIST-CNRS. Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Editor Jean-Loup Huret (Poitiers, France) Editorial Board Sreeparna Banerjee (Ankara, Turkey) Solid Tumours Section Alessandro Beghini (Milan, Italy) Genes Section Anne von Bergh (Rotterdam, The Netherlands) Genes / Leukaemia Sections Judith Bovée (Leiden, The Netherlands) Solid Tumours Section Vasantha Brito-Babapulle (London, UK) Leukaemia Section Charles Buys (Groningen, The Netherlands) Deep Insights Section Anne Marie Capodano (Marseille, France) Solid Tumours Section Fei Chen (Morgantown, West Virginia) Genes / Deep Insights Sections Antonio Cuneo (Ferrara, Italy) Leukaemia Section Paola Dal Cin (Boston, Massachussetts) Genes / Solid Tumours Section Louis Dallaire (Montreal, Canada) Education Section Brigitte Debuire (Villejuif, France) Deep Insights Section François Desangles (Paris, France) Leukaemia / Solid Tumours Sections Enric Domingo-Villanueva (London, UK) Solid Tumours Section Ayse Erson (Ankara, Turkey) Solid Tumours Section Richard Gatti (Los Angeles, California) Cancer-Prone Diseases / Deep Insights Sections Ad Geurts van Kessel (Nijmegen, The Netherlands) Cancer-Prone Diseases Section Oskar Haas (Vienna, Austria) Genes / Leukaemia Sections Anne Hagemeijer (Leuven, Belgium) Deep Insights Section Nyla Heerema (Colombus, Ohio) Leukaemia Section Jim Heighway (Liverpool, UK) Genes / Deep Insights Sections Sakari Knuutila (Helsinki, Finland) Deep Insights Section Lidia Larizza (Milano, Italy) Solid Tumours Section Lisa Lee-Jones (Newcastle, UK) Solid Tumours Section Edmond Ma (Hong Kong, China) Leukaemia Section Roderick McLeod (Braunschweig, Germany) Deep Insights / Education Sections Cristina Mecucci (Perugia, Italy) Genes / Leukaemia Sections Yasmin Mehraein (Homburg, Germany) Cancer-Prone Diseases Section Fredrik Mertens (Lund, Sweden) Solid Tumours Section Konstantin Miller (Hannover, Germany) Education Section Felix Mitelman (Lund, Sweden) Deep Insights Section Hossain Mossafa (Cergy Pontoise, France) Leukaemia Section Stefan Nagel (Braunschweig, Germany) Deep Insights / Education Sections Florence Pedeutour (Nice, France) Genes / Solid Tumours Sections Elizabeth Petty (Ann Harbor, Michigan) Deep Insights Section Susana Raimondi (Memphis, Tennesse) Genes / Leukaemia Section Mariano Rocchi (Bari, Italy) Genes Section Alain Sarasin (Villejuif, France) Cancer-Prone Diseases Section Albert Schinzel (Schwerzenbach, Switzerland) Education Section Clelia Storlazzi (Bari, Italy) Genes Section Sabine Strehl (Vienna, Austria) Genes / Leukaemia Sections Nancy Uhrhammer (Clermont Ferrand, France) Genes / Cancer-Prone Diseases Sections Dan Van Dyke (Rochester, Minnesota) Education Section Roberta Vanni (Montserrato, Italy) Solid Tumours Section Franck Viguié (Paris, France) Leukaemia Section José Luis Vizmanos (Pamplona, Spain) Leukaemia Section Thomas Wan (Hong Kong, China) Genes / Leukaemia Sections Atlas Genet Cytogenet Oncol Haematol. 2011; 15(5) Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Volume 15, Number 5, May 2011 Table of contents Gene Section ASXL1 (additional sex combs like 1 (Drosophila)) 393 Marie-Joelle Mozziconacci, Daniel Birnbaum EWSR1 (Ewing sarcoma breakpoint region 1) 397 Jean-Loup Huret FAM57A (family with sequence similarity 57, member A) 410 Zhiao Chen, Xianghuo He FUT8 (fucosyltransferase 8 (alpha (1,6) fucosyltransferase)) 412 Hideyuki Ihara, Cong-xiao Gao, Yoshitaka Ikeda, Naoyuki Taniguchi IGSF8 (immunoglobulin superfamily, member 8) 417 Yanhui H Zhang, Mekel M Richardson, Xin A Zhang MIXL1 (Mix1 homeobox-like 1 (Xenopus laevis)) 421 Aaron Raymond, Lalitha Nagarajan PEG3 (paternally expressed 3) 424 Yinhua Yu, Weiwei Feng, Zhen Lu, Robert C Bast Jr RPL10 (ribosomal protein L10) 427 Mohit Goel, Ranjan Tamuli SNAI1 (snail homolog 1 (Drosophila)) 430 Joerg Schwock, William R Geddie VAV3 (vav 3 guanine nucleotide exchange factor) 438 Leah Lyons, Kerry L Burnstein CAMTA1 (calmodulin binding transcription activator 1) 444 Kai-Oliver Henrich DYRK1A (dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A) 446 Maria L Arbonés, Susana de la Luna FBLN1 (fibulin 1) 453 Lorenzo Castagnoli, Elda Tagliabue, Serenella M Pupa HUS1 (HUS1 checkpoint homolog (S. pombe)) 458 Amrita Madabushi, Randall C Gunther, A-Lien Lu OTX2 (orthodenticle homeobox 2) 463 Matthew Wortham Leukaemia Section dic(3;9)(p14;p13) PAX5/FOXP1 466 Jean-Loup Huret dic(9;18)(p13;q11) PAX5/ZNF521 468 Jean-Loup Huret Atlas Genet Cytogenet Oncol Haematol. 2011; 15(5) Atlast(11;14)(q 13;q32)of Genetics in multiple myeloma and Cytogenetics Huret JL, Laï JL in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Case Report Section Chronic lymphocytic leukaemia/Small lymphocytic lymphoma (CLL/SLL) associated with translocation t(1;6)(p35;p25) as part of complex karyotype 470 Elvira D Rodrigues Pereira Velloso, Daniela Borri, Cristina Alonso Ratis, Guilherme Fleury Perin, Nelson Hamerschlak, Nydia S Bacal, Paulo A A Silveira, Alanna M P S Bezerra, Denise C Pasqualin Atlas Genet Cytogenet Oncol Haematol. 2011; 15(5) Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Gene Section Review ASXL1 (additional sex combs like 1 (Drosophila)) Marie-Joelle Mozziconacci, Daniel Birnbaum Institut Paoli-Calmettes, Centre de Recherche en Cancerologie de Marseille, Departement de Biopathologie and Laboratoire d'Oncologie Moleculaire, 232 Boulevard de Sainte-Marguerite, 13009 Marseille, France (MJM), Laboratoire d'Oncologie Moleculaire, Centre de Recherche en Cancerologie de Marseille, UMR891 Inserm, Institut Paoli-Calmettes 232 Boulevard de Sainte-Marguerite 13009 Marseille, France (DB) Published in Atlas Database: August 2010 Online updated version : http://AtlasGeneticsOncology.org/Genes/ASXL1ID44553ch20q11.html Printable original version : http://documents.irevues.inist.fr/bitstream/DOI ASXL1ID44553ch20q11.txt This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2011 Atlas of Genetics and Cytogenetics in Oncology and Haematology Identity HGNC (Hugo): ASXL1 Location: 20q11.21 Other names: KIAA0978, MGC117280, MGC71111 Local order: centromere 5' - 3' telomere. Representation of ASXL1 locus. A: Chromosome 20 with localisation of ASXL1; B: ASXL1 gene; C: Amino acid count; D: Protein with domains. ASXN, conserved domain at the N-terminus; ASXM, conserved domain in the middle part; NR, nuclear receptor; PHD, plant homeodomain; E: examples of mutations. Atlas Genet Cytogenet Oncol Haematol. 2011; 15(5) 393 ASXL1 (additional sex combs like 1 (Drosophila)) Mozziconacci MJ, Birnbaum D - ASXL1 may function as a tumor suppressor in DNA/RNA myeloid malignancies by affecting stem or Description progenitor cell self renewal or differentiation. The ASXL1 gene spans around 80 kb of genomic Homology DNA and is composed of 12 exons. There are 3 mammalian homologs of the Additional sex combs (Asx) gene of Drosophila: ASXL1, 2 Transcription (chromosome 2p24 in humans) and 3 (chromosome Alternative splicing results in multiple transcript 18q11 in humans). variants. Mutations Protein Note Description Acquired ASXL1 mutations are frequently The longer ASXL1 transcript encodes a 1541 frameshift and nonsense. All mutations