Atlas Journal
Total Page:16
File Type:pdf, Size:1020Kb
Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours Cancer-Prone Deep Insight Portal Teaching X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA Atlas Journal Atlas Journal versus Atlas Database: the accumulation of the issues of the Journal constitutes the body of the Database/Text-Book. TABLE OF CONTENTS Volume 12, Number 3, May-Jun 2008 Previous Issue / Next Issue Genes SOCS2 (suppressor of cytokine signaling 2) (12q21.33). Leandro Fernández-Pérez, Amilcar Flores-Morales. Atlas Genet Cytogenet Oncol Haematol 2008; Vol (12): 351-355. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/SOCS2ID44123ch12q21.html PTHLH (parathyroid hormone-like hormone) (12p11.22). Sai-Ching Jim Yeung. Atlas Genet Cytogenet Oncol Haematol 2008; Vol (12): 356-367. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/PTHLHID41897ch12p11.html MUC17 (mucin 17, cell surface associated) (7q22.1). Wade M Junker, Nicolas Moniaux, Surinder K Batra. Atlas Genet Cytogenet Oncol Haematol 2008; Vol (12): 368-378. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/MUC17ID41456ch7q22.html MUC16 (mucin 16, cell surface associated) (19p13.2). Shantibhusan Senapati, Moorthy P Ponnusamy, Ajay P Singh, Maneesh Jain, Surinder K Batra. Atlas Genet Cytogenet Oncol Haematol 2008; Vol (12): 379-384. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/MUC16ID41455ch19q13.html MAML2 (mastermind-like 2) (11q21) - updated. Kazumi Suzukawa, Jean Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2008; Vol (12): 385-390. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/MAML2ID472.html HYAL1 (hyaluronoglucosaminidase 1) (3p21.3). Demitrios H Vynios. Atlas Genet Cytogenet Oncol Haematol 2008; Vol (12): 391-396. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/HYAL1ID40903ch3p21.html HTATIP (HIV-1 Tat interacting protein, 60kDa) (11q13.1). Lise Mattera. Atlas Genet Cytogenet Oncol Haematol 2008; Vol (12): 397-405. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/HTATIPID40893ch11q13.html GRN (Granulin) (17q21.32). Hongyong Zhang, Chong-xian Pan, Liang Cheng. Atlas Genet Cytogenet Oncol Haematol 2008; Vol (12): 406-415. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/GRNID40757ch17q21.html CDH1 (cadherin 1, type 1, E-cadherin (epithelial)) (16q22.1). Marilia de Freitas Calmon, Paula Rahal. Atlas Genet Cytogenet Oncol Haematol 2008; Vol (12): 416-423. [Full Text] [PDF] Atlas Genet Cytogenet Oncol Haematol 2008; 3 I URL : http://atlasgeneticsoncology.org/Genes/CDH1ID166ch16q22.html CD97 (CD97 molecule) (19p13). Gabriela Aust. Atlas Genet Cytogenet Oncol Haematol 2008; Vol (12): 424-429. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/CD97ID996ch19p13.html BRCA1 (breast cancer 1, early onset) (17q21.31). Sreeparna Banerjee. Atlas Genet Cytogenet Oncol Haematol 2008; Vol (12): 430-439. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/BRCA1ID163ch17q21.html BNIP3 (Bcl-2/adenovirus E1B 19kD-interacting protein 3) (10q26.3). Sang-Gi Paik, Hayyoung Lee. Atlas Genet Cytogenet Oncol Haematol 2008; Vol (12): 440-445. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/BNIP3ID822ch10q26.html AIFM1 (apoptosis-inducing factor, mitochondrion-associated, 1) (Xq25). Victor J Yuste, Hans K Lorenzo, Santos A Susin. Atlas Genet Cytogenet Oncol Haematol 2008; Vol (12): 446-454. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Genes/AIFM1ID44053chXq25.html Leukaemias t(6;7)(q23;q34). Emmanuelle Clappier, Jean Soulier. Atlas Genet Cytogenet Oncol Haematol 2008; Vol (12): 455-457. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Anomalies/t0607q23q34ID1465.html t(3;9)(q26;p23). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2008; Vol (12): 458. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Anomalies/t0309q26p23ID1279.html t(3;5)(q26;q34). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2008; Vol (12): 459-460. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Anomalies/t0305q26q34ID1278.html t(3;17)(q26;q22). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2008; Vol (12): 461-462. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Anomalies/t0317q26q22ID1282.html del(11)(p12p13). Pieter Van Vlierberghe, Jules PP Meijerink. Atlas Genet Cytogenet Oncol Haematol 2008; Vol (12): 463-464. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Anomalies/del11p12p13ID1351.html Solid Tumours Subungual exostosis with t(X;6)(q13;q22). Clelia Tiziana Storlazzi, Fredrik Mertens. Atlas Genet Cytogenet Oncol Haematol 2008; Vol (12): 465-467. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Tumors/SubungExosttX6ID5526.html Soft tissue tumors: Alveolar soft part sarcoma - updated. Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2008; Vol (12): 468-472. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Tumors/AlveolSoftPartSID5125.html Cancer Prone Diseases Glomuvenous malformation (GVM). Virginie Aerts, Pascal Brouillard, Laurence M Boon, Miikka Vikkula. Atlas Genet Cytogenet Oncol Haematol 2008; Vol (12): 473-477. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Kprones/GlomuvenousID10120.html Deep Insights Atlas Genet Cytogenet Oncol Haematol 2008; 3 II Case Reports Translocation t(1;6)(p35;p25) in B-cell lymphoproliferative disorder with evolution to Diffuse Large B-cell Lymphoma. Elvira D Rodrigues Pereira Velloso, Cristina Ratis, Sérgio A B Brasil, João Carlos Guerra, Nydia Bacal; Cristóvão P Mangueira LM Pitangueira. Atlas Genet Cytogenet Oncol Haematol 2008; Vol (12): 478-479. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Reports/0106RodriguesID100030.html Educational Items How human chromosome aberrations are formed. Albert Schinzel. Atlas Genet Cytogenet Oncol Haematol 2008; Vol (12): 480-497. [Full Text] [PDF] URL : http://atlasgeneticsoncology.org/Educ/ChromAberFormedID30065ES.html © Atlas of Genetics and Cytogenetics in Oncology and Haematology X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA Home Genes Leukemias Solid Tumours Cancer-Prone Deep Insight Portal Teaching For comments and suggestions or contributions, please contact us [email protected]. Atlas Genet Cytogenet Oncol Haematol 2008; 3 III Atlas of Genetics and Cytogenetics in Oncology and Haematology SOCS2 (suppressor of cytokine signaling 2) Identity Other names CIS-2, Cytokine-inducible SH2 protein 2 CIS2, STAT induced STAT inhibitor-2 Cish2, STAT-induced STAT inhibitor 2 SOCS-2, suppressor of cytokine signaling 2 SSI-2, suppressor of cytokine signaling-2 SSI2 STATI2 Hugo SOCS2 Location 12q21.33 By cytogenetic and radiation hybrid mapping, SOCS-2 has been mapped to Local_order chromosome 12q21.3-q23 (Yandava et al., 1999). DNA/RNA Description 6,38 kb ; 3 Exons. Mouse SOCS2 gene is composed of 3 exons and 2 introns (Metcalf et al., 2000). Human SOCS-2 is a functioning gene that comprises 3 exons spanning roughly 6,38 kb of genomic DNA. Transcription 2210 bp mRNA. 1 protein (22.2 kDa; 198 aa). Although constitutively expressed SOCS2 mRNA has been detected in several tissues and cell types, its expression is, in general, induced by stimulation with different cytokines and hormones (Rico-Bautista et al., 2006). SOCS2 promoter analysis indicates the presence of AhR and STAT5 binding sites that confer responsiveness to dioxin (Boverhof et al., 2004) and GH (Vidal et al., 2006), respectively. Protein Diagram representing the structure of SOCS proteins. At least eight proteins belonging to the SOCS family of proteins are shown (upper panel). They are characterized by the presence of an SH2 central domain and the SOCS box domain at the C-terminus. A small domain called kinase inhibitory region (KIR), only found in SOCS1 and SOCS3, is shown as a small box at the N-terminal region. SOCS proteins can interact with phosphotyrosine phosphorylated proteins through their SH2 domain and with Elongin BC through their SOCS box domain. Other proteins containing a SOCS box domain but lacking a SH2 domain are also shown (lower panel). Adapted from Elliot and Johnston (Elliott and Johnston, 2004) with modifications. Atlas Genet Cytogenet Oncol Haematol 2008; 3 351 Description 22.2 kDa; 198 aa. Expression SOCS mRNA and protein levels are constitutively low in unstimulated cells, but their expression is rapidly induced upon cytokine stimulation, thereby creating a negative feedback loop. Its expression is, in general, induced by stimulation with different cytokines and hormones (Rico-Bautista et al., 2006). Localisation Intracellular, cytoplasm. Function SOCS mechanisms of action rely on their ability to bind tyrosine phosphorylated proteins through their SH2 domains, but also to bind Elongin BC through their SOCS box domains. SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction (Rico-Bautista et al., 2006). SOCS2 appears to be a negative regulator in the growth hormone/IGF1 signaling pathway (Metcalf et al., 2000). SOCS2 appear to be involved in regulating protein turnover, targeting proteins for proteasome-mediated degradation (Rico-Bautista et al., 2004). Mutations Note SNP: increasing the risk of type 2 diabetes. Implicated in Entity Diabete Note Susceptibility: to type 2 diabetes (Kato et al., 2006). Entity Metabolism Note SOCS2 null mice are giants but not obese (Metcalf et al., 2000). SOCS2 deficient mice have some metabolic characteristics that can be related to the enhanced