Synovial sarcomas occur most frequently in the extremities around large joints. More than 90% of cases have a recurrent and specific chromosomal translocation, t(X;18)(p11.2;q11.2), in which the 5-prime end of the SS18 gene is fused in-frame to the 3-prime end of the SSX1, SSX2, or SSX4 gene. The SS18L1 gene is homologous to SS18.[5]
SS18L1 has been shown to interact with CREB-binding protein.[6] Biochemical pull down assays reveal SS18L1 to interact with several components of the human SWI/SNF chromatin remodeling complex.[7]
de Bruijn DR, Kater-Baats E, Eleveld M, Merkx G, Geurts Van Kessel A (2001). "Mapping and characterization of the mouse and human SS18 genes, two human SS18-like genes and a mouse Ss18 pseudogene". Cytogenetics and Cell Genetics. 92 (3–4): 310–9. doi:10.1159/000056920. PMID11435705. S2CID22518714.
Storlazzi CT, Mertens F, Mandahl N, Gisselsson D, Isaksson M, Gustafson P, Domanski HA, Panagopoulos I (June 2003). "A novel fusion gene, SS18L1/SSX1, in synovial sarcoma". Genes, Chromosomes & Cancer. 37 (2): 195–200. doi:10.1002/gcc.10210. PMID12696068. S2CID40041616.
Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID16189514. S2CID4427026.
de Bruijn DR, Geurts van Kessel A (2006). "Common origin of the human synovial sarcoma associated SS18 and SS18L1 gene loci". Cytogenetic and Genome Research. 112 (3–4): 222–6. doi:10.1159/000089874. PMID16484776.
