Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL INIST -CNRS Volume 18 - Number 1 January 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, 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 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. 2014; 18(1) Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL INIST -CNRS Volume 18, Number 1, January 2014 Table of contents Gene Section CDCP1 (CUB domain containing protein 1) 1 Mark Moasser, Danislav Spassov CENPW (centromere protein W) 5 Seyoung Jeon, Soojin Lee CXCR1 (chemokine (C-X-C motif) receptor 1) 8 Sivan Sapoznik, Stav Kozlovski, Gal Markel MIR133B (microRNA 133b) 12 Hiroyuki Tsuchiya, Li Wang NCR2 (natural cytotoxicity triggering receptor 2) 16 Nathan Horton, Kelly Bowen, Porunelloor Mathew PTPRR (protein tyrosine phosphatase, receptor type, R) 23 Mirthe Erkens, Hubertus Kremer, Rafael Pulido, Wiljan Hendriks TSPY1 (testis specific protein, Y-linked 1) 32 Stephanie Schubert EHMT2 (euchromatic histone-lysine N-methyltransferase 2) 38 Chandra-Prakash Chaturvedi, Marjorie Brand USP32 (ubiquitin specific peptidase 32) 46 Aysegul Sapmaz, Ayse Elif Erson-Bensan Leukaemia Section Chronic Myelomonocytic Leukemia (CMML) 50 Eric Solary t(3;21)(q26;q22) 53 Jean-Loup Huret Solid Tumour Section Soft tissue tumors: an overview 57 Paola Dal Cin Deep Insight Section Cell cycle, checkpoints and cancer 67 Laura Carrassa Atlas Genet Cytogenet Oncol Haematol. 2014; 18(1) Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL INIST -CNRS Case Report Section der(1;18)(q10;q10) in a pediatric patient with cytopenias 76 Adriana Zamecnikova, Soad Al Bahar Atlas Genet Cytogenet Oncol Haematol. 2014; 18(1) Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL INIST -CNRS Atlas Genet Cytogenet Oncol Haematol. 2014; 18(1) Atlas of Genetics and Cytogenetics in Oncology and Haematology INIST -CNRS OPEN ACCESS JOURNAL Gene Section Review CDCP1 (CUB domain containing protein 1) Mark Moasser, Danislav Spassov Department of Medicine, Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94143, USA (MM, DS) Published in Atlas Database: June 2013 Online updated version : http://AtlasGeneticsOncology.org/Genes/CDCP1ID40016ch3p21.html DOI: 10.4267/2042/52068 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: Review on CDCP1, with data on DNA/RNA, on the protein encoded and where the gene is implicated. 2007). The isoform 2 encodes a truncated, secreted Identity protein of 343 amino acids, that contains the N- Other names: CD318, SIMA135, TRASK terminal part of the extracellular domain (and one CUB HGNC (Hugo): CDCP1 domain) of CDCP1 and lacks the transmembrane and intracellular modules. Currently, most studies have Location: 3p21.31 been focused on the more prominently expressed isoform 1. DNA/RNA The function and expression of isoform 2 remains Note poorly understood. CDCP1 (CUB Domain Containing Protein) was Pseudogene independently identified by several research groups. CDCP1 was initially isolated as a gene expressed in No pseudogenes, related to CDCP1 are present in the colorectal cancer (Scherl-Mostageer et al.,2001). The human genome. CDCP1 gene product was independently identified as a protein phosphorylated during mitosis and cellular Protein detachment by Src kinases (Bhatt et al., 2005) and it is Note also known as Trask (Transmembrane and Associated The full-length CDCP1 protein consists of 836 amino with Src Kinases). acids. The SDS PAGE migration of CDCP1 protein is Description approximately 140 kDa, which differs from its The CDCP1 gene comprises 9 verified exons. calculated molecular weight (approximately 90 kDa) due to extensive glycosylation (Bhatt et al., 2005). Transcription CDCP1 is cleaved by serine proteases at the Two alternative transcripts have been described (Perry extracellular domain next to Arg368 to generate a et al., 2007). truncated