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Number 12 December 2010 VolumeVolume 14 1 - -Number Number 12 1 MayDecember - September 2010 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. 2010; 14(12) Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Volume 14, Number 12, December 2010 Table of contents Gene Section CKS2 (CDC28 protein kinase regulatory subunit 2) 1104 Yongyou Zhang CRTC2 (CREB regulated transcription coactivator 2) 1108 Kristy A Brown, Nirukshi Samarageewa IL22RA1 (interleukin 22 receptor, alpha 1) 1110 Pascal Gelebart, Raymond Lai MAPK7 (mitogen-activated protein kinase 7) 1114 Francisco de Asís Iñesta-Vaquera, Ana Cuenda SLC16A1 (solute carrier family 16, member 1 (monocarboxylic acid transporter 1)) 1118 Céline Pinheiro, Fátima Baltazar STOML2 (stomatin (EPB72)-like 2) 1121 Wenfeng Cao, Liyong Zhang, Fang Ding, Zhumei Cui, Zhihua Liu AMOT (angiomotin) 1124 Roshan Mandrawalia, Ranjan Tamuli BRCA2 (breast cancer 2, early onset) 1127 Frédéric Guénard, Francine Durocher FST (follistatin) 1135 Michael Grusch GATA6 (GATA binding protein 6) 1139 Rosalyn M Adam, Joshua R Mauney HIPK2 (homeodomain interacting protein kinase 2) 1144 Dirk Sombroek, Thomas G Hofmann RAD9A (RAD9 homolog A (S. pombe)) 1148 Vivian Chan SCAF1 (SR-related CTD-associated factor 1) 1152 Christos Kontos, Andreas Scorilas SIRT1 (sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)) 1155 Ruo-Chia Tseng, Yi-Ching Wang SLC16A3 (solute carrier family 16, member 3 (monocarboxylic acid transporter 4)) 1160 Céline Pinheiro, Fátima Baltazar SPAM1 (sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)) 1163 Asli Sade, Sreeparna Banerjee TMPRSS2 (transmembrane protease, serine 2) 1166 Youngwoo Park TMSB10 (thymosin beta 10) 1169 Xueshan Qiu Atlas Genet Cytogenet Oncol Haematol. 2010; 14(12) 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 TYMP (thymidine phosphorylase) 1173 Irene V Bijnsdorp, Godefridus J Peters Leukaemia Section der(6)t(1;6)(q21-23;p21) 1178 Adriana Zamecnikova ins(9;4)(q33;q12q25) 1180 Jean-Loup Huret Solid Tumour Section t(19;22)(q13;q12) in myoepithelial carcinoma 1182 Jean-Loup Huret Deep Insight Section Glutathione S-Transferase pi (GSTP1) 1184 Isabelle Meiers The roles of SRA1 gene in breast cancer 1190 Yi Yan, Charlton Cooper, Etienne Leygue Atlas Genet Cytogenet Oncol Haematol. 2010; 14(12) Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Gene Section Review CKS2 (CDC28 protein kinase regulatory subunit 2) Yongyou Zhang Case Western Reserve University, WRB-3101, 2103 Cornell Rd, Cleveland, OH 44106, USA (YZ) Published in Atlas Database: February 2010 Online updated version : http://AtlasGeneticsOncology.org/Genes/CKS2ID40093ch9q22.html Printable original version : http://documents.irevues.inist.fr/bitstream/DOI CKS2ID40093ch9q22.txt This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2010 Atlas of Genetics and Cytogenetics in Oncology and Haematology Identity Description The open reading frame encodes a 79 amino acid Other names: CKSHS2 protein, with an estimated molecular weight of HGNC (Hugo): CKS2 approximately 9860 Da. Location: 9q22.2 Expression Note: There is no evidence that CKS2 gene has Basic level expression in all mammalian cells and different transcript variant. aberrant expression in cancer cells. DNA/RNA Localisation Cytoplasm and nucleus. Function CKS2 protein binds to the catalytic subunit of the Genomic organization of the CKS2 gene. cyclin-dependent kinases and is essential for their biological function of cell cycle control. Especially, Description CKS2 is required for the first metaphase/anaphase Three exons, spans approximately 5.5 kb of transition of mammalian meiosis. The mice ablated genomic DNA in the centromere-to-telomere of Cks2 are viable but sterile in both sexes. Sterility orientation. The translation initiation codon ATG is is due to failure of both male and female germ cells located in exon 1, and the stop codon in exon 3. to progress from the first meiotic metaphase to Transcription anaphase. In cancer cells, CKS2 may protect the cells from apoptosis. mRNA is 627 bp. Homology Pseudogene The CKS2 protein is evolutionary conserved. 1 processed, non-expressed, pseudogene in human Mammalian cells express two well-conserved CKS genome. members,
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