Number 11 November 2013
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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL INIST -CNRS Volume 17 - Number 11 November 2013 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 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. 2013; 17(11) Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL INIST -CNRS Volume 17, Number 11, November 2013 Table of contents Gene Section ITGA6 (integrin, alpha 6) 731 Young Hwa Soung, Jun Chung MITF (microphthalmia-associated transcription factor) 735 Nicole D Riddle, Paul Zhang PHOX2B (paired-like homeobox 2b) 740 Tiziana Bachetti, Isabella Ceccherini SGOL1 (shugoshin-like 1 (S. pombe)) 746 Tomoaki Kahyo, Haruhiko Sugimura CXCL5 (chemokine (C-X-C motif) ligand 5) 749 Anna A Bulysheva, W Andrew Yeudall MIR211 (microRNA 211) 753 Amir Avan, Mina Maftouh, Godefridus J Peters, Elisa Giovannetti SRD5A2 (steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)) 757 Nelson LS Tang, Chen Di Liao SSX2 (synovial sarcoma, X breakpoint 2) 759 Josiane Eid, Christina Garcia, Andrea Frump Leukaemia Section t(6;9)(p23;q34) DEK/NUP214 766 Jean-Loup Huret t(6;7)(p25.3;q32.3) DUSP22/FRA7H 770 Sarah H Johnson, George Vasmatzis, Andrew L Feldman Solid Tumour Section Fallopian tube tumors: an overview 773 Roland Gregor Stein, Joachim Diessner, Arnd Hönig, Jörg Wischhusen, Johannes Dietl Cancer Prone Disease Section Familial Juvenile Polyposis Syndrome 788 Scott K Sherman, James R Howe Atlas Genet Cytogenet Oncol Haematol. 2013; 17(11) Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL INIST -CNRS Deep Insight Section Premature Chromosome Condensation (PCC): Tools in chromosome and cytogenetic research 791 Eisuke Gotoh Case Report Section Homogeneously Staining Region (HSR) harboring CMYC amplification in a patient with primary plasma cell leukemia 799 Nusrat F Pathan, Margarita Palutke, Anwar N Mohamed Atlas Genet Cytogenet Oncol Haematol. 2013; 17(11) Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL INIST -CNRS Atlas Genet Cytogenet Oncol Haematol. 2013; 17(11) Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL INIST -CNRS Gene Section Review ITGA6 (integrin, alpha 6) Young Hwa Soung, Jun Chung Louisiana State University Health Sciences Center - Shreveport, Dept of Biochemistry and Molecular Biology, 1501 Kings Highway PO Box 33932, Shreveport, LA 71130-3932, USA (YHS, JC) Published in Atlas Database: April 2013 Online updated version : http://AtlasGeneticsOncology.org/Genes/ITGA6ID41007ch2q31.html DOI: 10.4267/2042/51810 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2013 Atlas of Genetics and Cytogenetics in Oncology and Haematology Identity Transcription The ITGA6 gene has 2 transcript variants encoding two Other names: CD49f, ITGA6B, VLA-6 different isoforms. HGNC (Hugo): ITGA6 Transcript variant 1 (NCBI Accession Location: 2q31.1 NM_001079818) encodes the longer isoform a (NP_001073286) comprised of 25 exons. DNA/RNA Transcript variant 2 (NCBI Accession NM_000210.2) encodes the shorter isoform b (NP_000201) comprised Description of 26 exons which has a distinct C-terminus with an ITGA6 (Gene ID: 3655) is located on chromosome 2 at alterative coding exon compared to isoform a. 2q31.1. Pseudogene Gene ranges from 173292314 to 173371181 on the plus There are no known pseudogenes. strand with a total length of 78870 bp. Figure 1. Schematic diagram of ITGA6 location on chromosome 2. Chromosome 2 is represented with banding pattern. ITGA6 is located at 31.1 and ranges from 173292314 to 173371181 on reverse strand. The region surrounding ITGA6 is enlarged. Genes are represented by arrows in the direction of transcription. Atlas Genet Cytogenet Oncol Haematol. 2013; 17(11) 731 ITGA6 (integrin, alpha 6) Soung YH, Chung J Protein Homology Mouse, rat and human homologs of ITGA6 share Note greater than 90% amino acid identity. The integrin alpha6 gene encodes for a protein of 10733 amino acid residues (NP_000201),