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Number 3 March 2011 VolumeVolume 15 1 -- NumberNumber 31 May March- Sept ember2011 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(3) Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Volume 15, Number 3, March 2011 Table of contents Gene Section AGER (advanced glycosylation end product-specific receptor) 239 Geetha Srikrishna, Barry Hudson ANG (angiogenin, ribonuclease, RNase A family, 5) 244 Shouji Shimoyama ATF5 (activating transcription factor 5) 252 Arthur KK Ching, Nathalie Wong BRE (brain and reproductive organ-expressed (TNFRSF1A modulator)) 255 Yiu-Loon Chui, Kenneth Ka-Ho Lee, John Yeuk-Hon Chan DDX1 (DEAD (Asp-Glu-Ala-Asp) box polypeptide 1) 259 Takahiko Hara, Kiyoko Tanaka DIO2 (deiodinase, iodothyronine, type II) 262 Ana Luiza Maia, Simone Magagnin Wajner, Leonardo B Leiria GFI1B (growth factor independent 1B transcription repressor) 266 Lothar Vassen, Tarik Möröy LRP5 (low density lipoprotein receptor-related protein 5) 270 Zhendong Alex Zhong, Bart O Williams MIF (macrophage migration inhibitory factor (glycosylation-inhibiting factor)) 276 Jan-Philipp Bach, Michael Bacher, Richard Dodel NEU3 (sialidase 3 (membrane sialidase)) 280 Kazunori Yamaguchi, Taeko Miyagi NPY1R (neuropeptide Y receptor Y1) 283 Massimiliano Ruscica, Elena Dozio, Luca Passafaro, Paolo Magni REPS2 (RALBP1 associated Eps domain containing 2) 288 Salvatore Corallino, Luisa Castagnoli XRCC6 (X-ray repair complementing defective repair in Chinese hamster cells 6) 293 Sabina Pucci, Maria Josè Zonetti Leukaemia Section t(6;22)(p21;q11) 297 Jean-Loup Huret Solid Tumour Section t(11;22)(q24;q12) in giant cell tumour of bone 299 Jean-Loup Huret Atlas Genet Cytogenet Oncol Haematol. 2011; 15(3) 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 t(11;22)(q24;q12) in rhabdomyosarcomas (RMS) 300 Jean-Loup Huret t(11;22)(q24;q12) in solid pseudopapillary tumour of the pancreas 302 Jean-Loup Huret Deep Insight Section MTA1 of the MTA (metastasis-associated) gene family and its encoded proteins: molecular and regulatory functions and role in human cancer progression 304 Yasushi Toh, Garth L Nicolson Role of p38α in apoptosis: implication in cancer development and therapy 317 Almudena Porras, Carmen Guerrero Atlas Genet Cytogenet Oncol Haematol. 2011; 15(3) Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Gene Section Review AGER (advanced glycosylation end product- specific receptor) Geetha Srikrishna, Barry Hudson Sanford-Burnham Medical Research Institute, 10901 North Torrey Pines Road, La Jolla, California 92037, USA (GS), Columbia University Medical Center, 630 West 168th St. New York, NY 10032, USA (BH) Published in Atlas Database: June 2010 Online updated version : http://AtlasGeneticsOncology.org/Genes/AGERID594ch6p21.html Printable original version : http://documents.irevues.inist.fr/bitstream/DOI AGERID594ch6p21.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 signal peptide (aa 1-22), followed by three Identity immunoglobulin-like domains, a V-type domain, (aa 23-116) and two C type domains (C1: aa 124- Other names: MGC22357; RAGE 221 and C2: 227-317), a single transmembrane HGNC (Hugo): AGER domain (aa 343-363), and a short cytoplasmic Location: 6p21.32 domain (aa 364-404) necessary for signaling. The prevalent isoforms of RAGE are full length RAGE, RAGE_v1 or endogenous secretory (es RAGE) which lacks the cytosolic and transmembrane domains and therefore can be secreted into the extracellular space, and N-terminal truncated Figure 1. Schematic of human chromosome 6. RAGE (RAGE_v2) which lacks N-terminal V domain and therefore cannot bind ligands. DNA/RNA RAGE_v2 does not form mature protein. Through Description its ability to scavenge RAGE ligands, soluble RAGE isoforms (sRAGE) are believed to act a The human AGER (RAGE) gene lies within the decoy receptor by regulating signaling mediated by major histocompatibility complex class III region activation of full length RAGE. Expression of on chromosome 6, which contains genes involved isoforms is tissue specific, suggesting tight tissue- in immune responses, such as TNFalpha, specific regulation of expression. sRAGE can also lymphotoxin, complement components
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