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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Gene Section Short Communication SS18 (synovial sarcoma translocation, chromosome 18) Mamoru Ouchida Department of Molecular Genetics, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University. Shikata-cho 2-5-1, Okayama 700-8558, Japan Published in Atlas Database: May 2006 Online updated version: http://AtlasGeneticsOncology.org/Genes/SS18ID84ch18q11.html DOI: 10.4267/2042/38345 This work is licensed under a Creative Commons Attribution-Non-commercial-No Derivative Works 2.0 France Licence. © 2006 Atlas of Genetics and Cytogenetics in Oncology and Haematology protein. SS18 protein binds to p300, hBRM, AF10 and SIN3A proteins. The QPGY domain activates transcription when coupled to a DNA-binding domain. Identity Hugo: SS18 Other names: MGC116875; SSXT; SYT Location: 18q11.2 Expression Ubiquitous. DNA/RNA Localisation Note: Member of the SS18 family. SYT, one of the alternative gene names, has continued to be used in the literature for this gene. Nuclear. Description Homology 11 exons, spaning approximately 75 kb of genomic DNA in the telomere-to-centromere orientation on chromosome 18q11.2. The promoter region lacks CAAT and TATA boxes but contains CpG islands, suggesting that SS18 is a housekeeping gene. SS18L1, SS18L2. Transcription Prognosis A high grade sarcoma that leads to death in at least 25% of patients within five years of diagnosis. Prognosis may be different between the synovial sarcoma patients with SYT-SSX1 and SYT-SSX2. Cytogenetics t(X;18)(p11.2;q11.2) Hybrid/Mutated Gene SYT-SSX1, SYT-SSX2, SYT-SSX4; the exon 10 of the SS18 (SYT) gene is fused to exon 6 of the SSX genes. Abnormal Protein The last 8 amino acid residues of the SS18 (SYT) protein are replaced by 78 amino acids from the Cterminal part of SSX proteins. Function Transcriptional coactivator. Implicated in Synovial sarcoma Exon 8 is spliced out with different ratio in the various tissues by alternative splicing. Pseudogene SS18L2 (3p21). Protein Description 418 amino acids. 2 domains; the SHN domain (the SYT N-terminal homology domain) that is found in proteins from a wide variety of species ranging from plants to human, and the QPGY domain at the C-terminal part, rich in glutamine, proline, glycine and tyrosine. Four putative src-homology binding domains and two annexin-like direct repeats were exhibited in the SS18 Atlas Genet Cytogenet Oncol Haematol. 2006;10(4) 228 SS18 (synovial sarcoma translocation, chromosome 18) Ouchida M SYT and SYT-SSX synovial sarcoma translocation proteins and co-localization with the SNF protein BRM in the nucleus. Hum Molec Genet 1999;8:585-591. Breakpoints Xp11 (SSX1) Eid JE, Kung AL, Scully R, Livingston DM. p300 interacts with the nuclear proto-oncoprotein SYT as part of the active control of cell adhesion. Cell 2000;102(6):839-848. Xp11 (SSX2) Xp11 (SSX4) Naito N, Kawai A, Ouchida M, Dan'ura T, Morimoto Y, Ozaki T, Shimizu K, Inoue H. A reverse transcriptase-polymerase chain reaction assay in the diagnosis of soft tissue sarcomas. Cancer 2000;89(9):1992-1998. 18q11 (SS18) de Bruijn DRH, dos Santos NR, Thijssen J, Balemans M, Debernardi S, Linder B, Young BD, Geurts van Kessel A. The synovial sarcoma associated protein SYT interacts with the acute leukemia associated protein AF10. Oncogene 2001;20(25):3281-3289. SS18 and partners. Editor 08/2005. References de Bruijn DRH, Kater-Baats E, Eleveld M, Merkx G, van Kessel AG. Mapping and characterization of the mouse and human SS18 genes, two human SS18-like genes and a mouse Ss18 pseudogene. Cytogenet Cell Genet 2001;92:310-319. Clark J, Rocques PJ, Crew AJ, Gill S, Shipley J, Chan AM-L, Gusterson BA, Cooper CS. Identification of novel genes, SYT and SSX, involved in the t(X;18)(p11.2;q11.2) translocation found in human synovial sarcoma. Nature Genet 1944;7:502508. Morimoto Y, Ouchida M, Ozaki T, Kawai A, Ito T, Yoshida A, Inoue H, Shimizu K. Splicing isoform of SYT-SSX fusion protein accelerates transcriptional activity and cell proliferation. Cancer Lett 2003;199(1):35-43. de Bruijn DRH, Baats E, Zechner U, de Leeuw B, Balemans M, Olde Weghuis D, Hirning-Folz U, Geurts van Kessel A. Isolation and characterization of the mouse homolog of SYT, a gene implicated in the development of human synovial sarcomas. Oncogene 1996;13:643-648. Ito T, Ouchida M, Ito S, Jitsumori Y, Morimoto Y, Ozaki T, Kawai A, Inoue H, Shimizu K. SYT, a partner of SYT-SSX oncoprotein in synovial sarcomas, interacts with mSin3A, a component of histone deacetylase complex. Lab Invest 2004;84(11):1484-1490. Kawai A, Woodruff J, Healey JH, Brennan MF, Antonescu CR, Ladanyi M. SYT-SSX gene fusion as a determinant of morphology and prognosis in synovial sarcoma. New Eng J Med 1998;338:153-160. This article should be referenced as such: Ouchida M. SS18 (synovial sarcoma translocation, chromosome 18). Atlas Genet Cytogenet Oncol Haematol.2006; 10(4):228-229. Skytting B, Nilsson G, Brodin B, Xie Y, Lundeberg J, Uhlén M, Larsson O. A novel fusion gene, SYT-SSX4, in synovial sarcoma. J Nat Cancer Inst 1999;91:974-975. Thaete C, Brett D, Monaghan P, Whitehouse S, Rennie G, Rayner E, Cooper CS, Goodwin G. Functional domains of the Atlas Genet Cytogenet Oncol Haematol. 2006;10(4) 229