Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL INIST -CNRS Volume 18 - Number 2 February 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 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(2) Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL INIST -CNRS Volume 18, Number 2, February 2014 Table of contents Gene Section ADAMTS12 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 12) 78 Santiago Cal, Alvaro J Obaya CPM (carboxypeptidase M) 82 Anne-Marie Lambeir GALNT6 (UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalacto saminyltransferase 6 (GalNAc-T6)) 90 Jae-Hyun Park, Yusuke Nakamura LRP1B (low density lipoprotein receptor-related protein 1B) 93 Hugo Prazeres, Catarina Salgado, Cecília Duarte, Paula Soares MIR296 (microRNA 296) 102 Chiara Verdelli, Sabrina Corbetta PIAS1 (protein inhibitor of activated STAT, 1) 106 Andrea Rabellino, Pier Paolo Scaglioni PRUNE (prune exopolyphosphatase) 110 Massimo Zollo RNF11 (ring finger protein 11) 112 Elena Santonico, Anna Mattioni, Alberto Calderone TALDO1 (transaldolase 1) 117 Zachary Oaks, Andras Perl Leukaemia Section t(X;14)(p11.4;q32.33) IGH/GPR34 122 Iwona Wlodarska Solid Tumour Section Pancreatic tumors: an overview 125 Carlos A Tirado, David S Shabsovich, Jianling Ji, David Dawson Deep Insight Section The contribution of circadian rhythms to cancer formation and mortality 133 Tana L Birky, Molly S Bray Atlas Genet Cytogenet Oncol Haematol. 2014; 18(2) Atlas of Genetics and Cytogenetics in Oncology and Haematology INIST -CNRS OPEN ACCESS JOURNAL Case Report Section A case of sole i(4)(p10) in myelodysplastic syndrome 146 François Desangles, Aurélie Servonnet, Hubert Nielly, Serge Cremades, Jean-Etienne Pilo Atlas Genet Cytogenet Oncol Haematol. 2014; 18(2) Atlas of Genetics and Cytogenetics in Oncology and Haematology INIST -CNRS OPEN ACCESS JOURNAL Gene Section Review ADAMTS12 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 12) Santiago Cal, Alvaro J Obaya Departamento de Bioquimica y Biologia Molecular, Instituto Universitario de Oncologia (IUOPA), Universidad de Oviedo, 33006, Asturias, Spain (SC), Biologia Funcional, Instituto Universitario de Oncologia (IUOPA), Universidad de Oviedo, 33006, Asturias, Spain (AJO) Published in Atlas Database: July 2013 Online updated version : http://AtlasGeneticsOncology.org/Genes/ADAMTS12ID575ch5p13.html DOI: 10.4267/2042/53078 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 signal peptide, a prodomain involved in maintaining Abstract enzyme latency and a catalytic domain that contains the Review on ADAMTS12, with data on DNA/RNA, on consensus sequence HEXXHGXXHD involved in the the protein encoded and where the gene is implicated. coordination of the zinc atom necessary for catalytic activity of the enzyme. This sequence ends in an Asp Identity residue which distinguishes ADAMTSs from other metalloproteases such as MMPs. Following this Other names: PRO4389 catalytic region there are several other domains HGNC (Hugo): ADAMTS12 characterized as a disintegrin-like domain, a central Location: 5p13.3 thrombospondin-1 (TSP-1) motif, a cysteine-rich domain, a spacer region and a variable number of TSP- DNA/RNA 1 repeats, three in the case of ADAMTS-12. A structural hallmark of ADAMTS-12 is the presence of Description a second spacer region followed by four additional 24 exons, spans approximately 368.66 Kb of genomic TSP-1 repeats (Figure 1) (Cal et al., 2001). DNA in the telomere-to-centromere orientation. The translation initiation codon is located to exon 1, Expression and the stop codon to exon 24. ADAMTS12 cDNA was originally cloned from a human fetal lung cDNA library and its expression was Transcription also detected in human fetal fibroblasts following ADAMTS12 Human mRNA of 8.77 Kb as detected by treatment with TGF-β. By real-time polymerase chain northern-blot. reaction (PCR) assay ADAMTS12 expression can also be detected in cartilage,