Crew A J, Clark J, Fisher C, Gill S, Grimer R, Chand A, Shipley J, Gusterson B A, Cooper C S
Section of Molecular Carcinogenesis, Haddow Laboratories, Belmont, Sutton, Surrey.
EMBO J. 1995 May 15;14(10):2333-40. doi: 10.1002/j.1460-2075.1995.tb07228.x.
We demonstrate that the cytogenetically defined translocation t(X;18)(p11.2;q11.2) found in human synovial sarcoma results in the fusion of the chromosome 18 SYT gene to either of two distinct genes, SSX1 or SSX2, at Xp11.2. The SSX1 and SSX2 genes encode closely related proteins (81% identity) of 188 amino acids that are rich in charged amino acids. The N-terminal portion of each SSX protein exhibits homology to the Kruppel-associated box (KRAB), a transcriptional repressor domain previously found only in Kruppel-type zinc finger proteins. PCR analysis demonstrates the presence of SYT-SSX1 or SYT-SSX2 fusion transcripts in 29 of 32 of the synovial sarcomas examined, indicating that the detection of these hybrid transcripts by PCR may represent a very useful diagnostic method. Sequence analysis has demonstrated heterogeneity in the fusion transcripts with the formation of two distinct SYT-SSX1 fusion junctions and two distinct SYT-SSX2 fusion junctions.
我们证明，在人类滑膜肉瘤中发现的细胞遗传学定义的易位t(X;18)(p11.2;q11.2)导致18号染色体上的SYT基因与Xp11.2处两个不同基因SSX1或SSX2中的任意一个发生融合。SSX1和SSX2基因编码188个氨基酸的密切相关蛋白质（同一性为81%），这些蛋白质富含带电荷的氨基酸。每个SSX蛋白的N端部分与Kruppel相关盒（KRAB）具有同源性，KRAB是一种以前仅在Kruppel型锌指蛋白中发现的转录抑制结构域。PCR分析表明，在所检测的32例滑膜肉瘤中有29例存在SYT-SSX1或SYT-SSX2融合转录本，这表明通过PCR检测这些杂交转录本可能是一种非常有用的诊断方法。序列分析表明，融合转录本存在异质性，形成了两个不同的SYT-SSX1融合连接点和两个不同的SYT-SSX2融合连接点。
