Fusion of SYT to two genes, SSX1 and SSX2, encoding proteins with homology to the Kruppel‐associated box in human synovial sarcoma.
Fusion of SYT to two genes, SSX1 and SSX2, encoding proteins with homology to the Kruppel‐associated box in human synovial sarcoma.
复制标题
SYT 与两个基因 SSX1 和 SSX2 的融合，编码与人类滑膜肉瘤中的 Kruppel 相关盒同源的蛋白质。
作者：
A. J. Crew;J. Clark;C. Fisher;S. Gill;R. Grimer;Aarti Chand;J. Shipley;B. Gusterson;C. Cooper
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SYT基因融合到两个不同的基因，SSX 1或SSX 2，在Xp11.2。SSX 1和SSX 2基因编码188个氨基酸的密切相关的蛋白质（81%的同一性），这些蛋白质富含带电氨基酸。每个SSX蛋白的N末端部分与Kruppel相关盒（KRAB）具有同源性，KRAB是以前仅在Kruppel型锌指蛋白中发现的转录抑制结构域。PCR分析表明，SYT-SSX 1或SYT-SSX 2融合转录本在32例滑膜肉瘤中的29例中存在，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。序列分析证明了融合转录物的异质性，形成了两个不同的SYT-SSX 1融合连接和两个不同的SYT-SSX 2融合连接。
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.