Clark J, Rocques P J, Crew A J, Gill S, Shipley J, Chan A M, Gusterson B A, Cooper C S
Department of Molecular Carcinogenesis, Institute of Cancer Research, Haddow Laboratories, Sutton, Surrey, UK.
Nat Genet. 1994 Aug;7(4):502-8. doi: 10.1038/ng0894-502.
Human synovial sarcomas contain a recurrent and specific chromosomal translocation t(X;18)(p11.2;q11.2). By screening a synovial sarcoma cDNA library with a yeast artificial chromosome spanning the X chromosome breakpoint, we have identified a hybrid transcript that contains 5' sequences (designated SYT) mapping to chromosome 18 and 3' sequences (designated SSX) mapping to chromosome X. An SYT probe detected genomic rearrangements in 10/13 synovial sarcomas. Sequencing of cDNA clones shows that the normal SYT gene encodes a protein rich in glutamine, proline and glycine, and indicates that in synovial sarcoma rearrangement of the SYT gene results in the formation of an SYT-SSX fusion protein. Both SYT and SSX failed to exhibit significant homology to known gene sequences.
人类滑膜肉瘤存在一种常见且特异的染色体易位t(X;18)(p11.2;q11.2)。通过用跨越X染色体断点的酵母人工染色体筛选滑膜肉瘤cDNA文库，我们鉴定出一种杂种转录物，其包含定位于18号染色体的5'序列（命名为SYT）和定位于X染色体的3'序列（命名为SSX）。一个SYT探针在13例滑膜肉瘤中的10例中检测到基因组重排。cDNA克隆测序表明，正常的SYT基因编码一种富含谷氨酰胺、脯氨酸和甘氨酸的蛋白质，并表明在滑膜肉瘤中SYT基因的重排导致形成SYT-SSX融合蛋白。SYT和SSX均未显示与已知基因序列有显著同源性。
