Download Gene Section SS18 (synovial sarcoma translocation, chromosome 18) Atlas of Genetics and Cytogenetics

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