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Number 11 November 2014 Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL INIST -CNRS Volume 18 - Number 11 November 2014 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 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, and also more traditional review articles (“deep insights”) on the above subjects and on surrounding topics. It also present 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, Marie-Christine Jacquemot-Perbal, Vanessa Le Berre, Anne Malo, Carol Moreau, Catherine Morel-Pair, Laurent Rassinoux, Alain Zasadzinski. Philippe Dessen is the Database Director (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 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 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 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 Adriana Zamecnikova (Kuwait) Leukaemia Section Atlas Genet Cytogenet Oncol Haematol. 2014; 18(11) Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL INIST -CNRS Volume 18, Number 11, November 2014 Table of contents Gene Section ACVRL1 (activin A receptor type II-like 1) 789 Federica Ornati, Luca Vecchia, Claudia Scotti, Sara Plumitallo, Carla Olivieri CTDSPL (CTD (Carboxy-Terminal Domain, RNA Polymerase II, Polypeptide A) Small Phosphatase- Like) 797 Shreya Sarkar, Guru Prasad Maiti, Chinmay Kumar Panda DLX2 (distal-less homeobox 2) 805 Yorick Gitton, Giovanni Levi DLX5 (distal-less homeobox 5) 810 Yorick Gitton, Giovanni Levi DLX6 (distal-less homeobox 6) 817 Yorick Gitton, Giovanni Levi EDIL3 (EGF-Like Repeats And Discoidin I-Like Domains 3) 824 Hisataka Kitano, Chiaki Hidai HELLS (Helicase, Lymphoid-Specific) 829 Kathrin Muegge, Theresa Geiman NUAK1 (NUAK family, SNF1-like kinase, 1) 834 Fumika Inazuka, Hiroyasu Esumi PFKFB2 (6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2) 838 Ana Rodríguez-García, Pere Fontova, Helga Simon, Anna Manzano, Ramon Bartrons, Àurea Navarro-Sabaté WWTR1 (WW domain containing transcription regulator 1) 849 Yulei Zhao, Xiaolong Yang Leukaemia Section t(5;11)(q35;q12) NSD1/FEN1 853 Nathalie Douet-Guilbert, Etienne De Braekeleer, Corinne Tous, Nadia Guéganic, Audrey Basinko, Marie-Josée Le Bris, Frédéric Morel, Marc De Braekeleer t(7;9)(q11;p12) PAX5/POM121 856 Jean-Loup Huret t(9;12)(q34;p13) ETV6/ABL1 859 Etienne De Braekeleer, Nathalie Douet-Guilbert, Marc De Braekeleer t(9;22)(p13;q13) PAX5/BRD1 862 Jean-Loup Huret Atlas Genet Cytogenet Oncol Haematol. 2014; 18(11) Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL INIST -CNRS Deep Insight Section Class III beta-tubulin, drug resistance and therapeutic approaches in cancers 865 Roshan Karki, Cristiano Ferlini Atlas Genet Cytogenet Oncol Haematol. 2014; 18(11) Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL INIST -CNRS Atlas Genet Cytogenet Oncol Haematol. 2014; 18(11) Atlas of Genetics and Cytogenetics in Oncology and Haematology INIST -CNRS OPEN ACCESS JOURNAL Gene Section Review ACVRL1 (activin A receptor type II-like 1) Federica Ornati, Luca Vecchia, Claudia Scotti, Sara Plumitallo, Carla Olivieri Dept of Molecular Medicine, Unit of General Biology and Medical Genetics, University of Pavia, Italy (FO, SP, CO), Dept of Molecular Medicine, Unit of Immunology and General Pathology, University of Pavia, Italy (LV, CS) Published in Atlas Database: March 2014 Online updated version : http://AtlasGeneticsOncology.org/Genes/ACVRL1ID569ch12q13.html DOI: 10.4267/2042/54160 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2014 Atlas of Genetics and Cytogenetics in Oncology and Haematology Abstract Transcription Gene database underlines the presence of two Activin A receptor, type II-like kinase 1 (ALK1 is a different ACVRL1 transcripts, which both translate serine-threonine kinase) predominantly expressed into the same protein isoform. The second transcript on endothelial cells surface. Mutations in its variant is the shortest one and differs from the first ACVRL1 encoding gene (12q11-14) cause type 2 one in the 5'UTR region, due to the presence of an Hereditary Haemorrhagic Telangiectasia (HHT2), upstream in-frame start codon, poorly conserved in an autosomal dominant multisystem vascular the population. Nevertheless, in 2010 two new dysplasia. Its involvement in cancer transcripts were discovered in HUVEC cells. These neoangiogenesis has lead to the recent development new variants, called mRNA3 and mRNA4, begin of novel anti-cancer drugs, which are now in the transcription +1 nucleotide upstream , clinical trials. respectively at -510 and -470 positions, adding a cryptic non translated exon, that doesn't affect the Identity protein ORF (Garrido-Martin et al., 2010). Other names: ACVRLK1, ALK-1, ALK1, HHT, The promoter region
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