BHDS) 521 Antonella Maffé, Benedetta Toschi, Maurizio Genuardi
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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL INIST -CNRS Volume 18 - Number 7 July 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 ACCES S 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, 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 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(7) Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL INIST -CNRS Volume 18, Number 7, July 2014 Table of contents Gene Section CARTPT (CART Prepropeptide) 453 Kalle Landerholm, Nils Wierup CLEC1B (C-Type Lectin Domain Family 1, Member B) 457 Katsue Suzuki-Inoue GPC1 (glypican 1) 461 Wael Awad, Derek T Logan, Katrin Mani GPX1 (Glutathione Peroxidase 1) 465 Mikhail V Kulak, Ronald J Weigel MIR122 (microRNA 122) 470 Julie Gailius, Dayna Pinel, Joyce Wilson, Patricia Thibault NR0B1 (nuclear receptor subfamily 0, group B, member 1) 480 Carmen Ruggiero, Enzo Lalli TPBG (trophoblast glycoprotein) 491 Swetha Yadav, Robert J Amato, Virginia Mohlere ADAMTS9 (ADAM metallopeptidase with thrombospondin type 1 motif, 9) 497 Sawako Yoshina, Shohei Mitani C12orf5 (chromosome 12 open reading frame 5) 500 Helga Simon, Ana Rodríguez-García, Àurea Navarro-Sabaté, Pere Fontova, Ramon Bartrons, Anna Manzano ELF4 (E74-like factor 4 (ets domain transcription factor)) 511 Stephen D Nimer, Yan Liu Leukaemia Section t(2;8)(p23;p11) KAT6A/ASXL2 516 Jean-Loup Huret t(9;10)(q34;q22) ZMIZ1/ABL1 518 Jean-Loup Huret Cancer Prone Disease Section Birt-Hogg-Dubé syndrome (BHDS) 521 Antonella Maffé, Benedetta Toschi, Maurizio Genuardi Atlas Genet Cytogenet Oncol Haematol. 2014; 18(7) Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL INIST -CNRS Deep Insight Section delta16HER2 splice variant and its role in HER2-overexpressing breast cancer 526 Gaia C Ghedini, Valentina Ciravolo, Lorenzo Castagnoli, Elda Tagliabue, Serenella M Pupa Tissue specific role of calcium sensing receptor 532 Puja Sarkar, Sudhir Kumar Atlas Genet Cytogenet Oncol Haematol. 2014; 18(7) Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL INIST -CNRS Atlas Genet Cytogenet Oncol Haematol. 2014; 18(7) Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL INIST -CNRS Gene Section Review CARTPT (CART Prepropeptide) Kalle Landerholm, Nils Wierup Department of Surgery, Ryhov County Hospital, SE-551 85 Jonkoping, Sweden (KL), Neuroendocrine Cell Biology, Department of Clinical Sciences in Malmo, Lund University, Skane University Hospital, Clinical Research Centre, 91-12-60, Jan Waldenstroms gata 35, SE-205 02 Malmo, Sweden (NW) Published in Atlas Database: November 2013 Online updated version : http://AtlasGeneticsOncology.org/Genes/CARTPTID52655ch5q13.html DOI: 10.4267/2042/53963 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 into the 116 amino acid (aa) long prepro-CART Abstract peptide. The first 27 amino acid residues serve as a Review on CARTPT, with data on DNA/RNA, on hydrophobic N-terminal signal sequence, which is the protein encoded and where the gene is cleaved, resulting in the 89 aa long pro-CART implicated. peptide (Douglass et al., 1995). Pro-CART is subsequently subject to processing by Identity prohormone/proprotein convertases (PCs) during the regulated secretory pathway in the Golgi Other names: CART apparatus, immature secretory granules and finally HGNC (Hugo): CARTPT mature secretory granules (Stein et al., 2006b). Location: 5q13.2 PC1/3 is primarily responsible for producing the intermediate peptide 10-89, whereas PC2 and to a Note lesser extent PC5/6A generate the two bioactive Cocaine- and amphetamine-regulated transcript CART peptides (42-89 and 49-89) (Stein et al., (CART) was discovered in 1995 by Douglass et al. 2006a; Stein et al., 2006b). as an mRNA that was upregulated in the rat brain in In addition, there are a number of smaller CART response to psychostimulant administration peptide fragments of uncertain importance (Kuhar (Douglass et al., 1995). and Yoho, 1999; Dylag et al., 2006; Stein et al., DNA/RNA 2006b).