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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 Identity SIN3A proteins. The QPGY domain activates Hugo: SS18 transcription when coupled to a DNA-binding domain. Other names: MGC116875; SSXT; SYT Expression Location: 18q11.2 Ubiquitous. DNA/RNA Localisation Note: Member of the SS18 family. SYT, one of the Nuclear. alternative gene names, has continued to be used in the Function literature for this gene. Transcriptional coactivator. Description Homology 11 exons, spaning approximately 75 kb of genomic SS18L1, SS18L2. DNA in the telomere-to-centromere orientation on chromosome 18q11.2. The promoter region lacks Implicated in CAAT and TATA boxes but contains CpG islands, suggesting that SS18 is a housekeeping gene. Synovial sarcoma Transcription Prognosis Exon 8 is spliced out with different ratio in the various A high grade sarcoma that leads to death in at least tissues by alternative splicing. 25% of patients within five years of diagnosis. Pseudogene Prognosis may be different between the synovial sarcoma patients with SYT-SSX1 and SYT-SSX2. SS18L2 (3p21). Cytogenetics Protein t(X;18)(p11.2;q11.2) Hybrid/Mutated Gene Description SYT-SSX1, SYT-SSX2, SYT-SSX4; the exon 10 of 418 amino acids. 2 domains; the SHN domain (the SYT the SS18 (SYT) gene is fused to exon 6 of the SSX N-terminal homology domain) that is found in proteins genes. from a wide variety of species ranging from plants to Abnormal Protein human, and the QPGY domain at the C-terminal part, rich in glutamine, proline, glycine and tyrosine. Four The last 8 amino acid residues of the SS18 (SYT) putative src-homology binding domains and two protein are replaced by 78 amino acids from the C- annexin-like direct repeats were exhibited in the SS18 terminal part of SSX proteins.

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 Breakpoints and co-localization with the SNF protein BRM in the nucleus. Hum Molec Genet 1999;8:585-591. Xp11 (SSX1) Xp11 (SSX2) Eid JE, Kung AL, Scully R, Livingston DM. p300 interacts with the nuclear proto-oncoprotein SYT as part of the active control Xp11 (SSX4) of cell adhesion. Cell 2000;102(6):839-848. Naito N, Kawai A, Ouchida M, Dan'ura T, Morimoto Y, Ozaki T, Shimizu K, Inoue H. A reverse transcriptase-polymerase chain 18q11 ( SS18 ) reaction assay in the diagnosis of soft tissue sarcomas. Cancer 2000;89(9):1992-1998. de Bruijn DRH, dos Santos NR, Thijssen J, Balemans M, Debernardi S, Linder B, Young BD, Geurts van Kessel A. The SS18 and partners. Editor 08/2005. synovial sarcoma associated protein SYT interacts with the acute leukemia associated protein AF10. Oncogene References 2001;20(25):3281-3289. de Bruijn DRH, Kater-Baats E, Eleveld M, Merkx G, van Kessel Clark J, Rocques PJ, Crew AJ, Gill S, Shipley J, Chan AM-L, AG. Mapping and characterization of the mouse and human Gusterson BA, Cooper CS. Identification of novel genes, SYT SS18 genes, two human SS18-like genes and a mouse Ss18 and SSX, involved in the t(X;18)(p11.2;q11.2) translocation pseudogene. Cytogenet Cell Genet 2001;92:310-319. found in human synovial sarcoma. Nature Genet 1944;7:502- 508. Morimoto Y, Ouchida M, Ozaki T, Kawai A, Ito T, Yoshida A, Inoue H, Shimizu K. Splicing isoform of SYT-SSX fusion de Bruijn DRH, Baats E, Zechner U, de Leeuw B, Balemans M, protein accelerates transcriptional activity and cell proliferation. Olde Weghuis D, Hirning-Folz U, Geurts van Kessel A. Cancer Lett 2003;199(1):35-43. Isolation and characterization of the mouse homolog of SYT, a gene implicated in the development of human synovial Ito T, Ouchida M, Ito S, Jitsumori Y, Morimoto Y, Ozaki T, sarcomas. Oncogene 1996;13:643-648. Kawai A, Inoue H, Shimizu K. SYT, a partner of SYT-SSX oncoprotein in synovial sarcomas, interacts with mSin3A, a Kawai A, Woodruff J, Healey JH, Brennan MF, Antonescu CR, component of histone deacetylase complex. Lab Invest Ladanyi M. SYT-SSX gene fusion as a determinant of 2004;84(11):1484-1490. morphology and prognosis in synovial sarcoma. New Eng J Med 1998;338:153-160. This article should be referenced as such: Skytting B, Nilsson G, Brodin B, Xie Y, Lundeberg J, Uhlén M, Ouchida M. SS18 (synovial sarcoma translocation, Larsson O. A novel fusion gene, SYT-SSX4, in synovial chromosome 18). Atlas Genet Cytogenet Oncol sarcoma. J Nat Cancer Inst 1999;91:974-975. Haematol.2006; 10(4):228-229. Thaete C, Brett D, Monaghan P, Whitehouse S, Rennie G, Rayner E, Cooper CS, Goodwin G. Functional domains of the

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