Identification of a novel spliced variant of the SYT gene expressed in normal tissues and in synovial sarcoma.
Identification of a novel spliced variant of the SYT gene expressed in normal tissues and in synovial sarcoma.
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DOI：
10.1054/bjoc.2000.1710
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发表时间：
2001-04-20
影响因子：
8.8
通讯作者：
Pilotti S
中科院分区：
文献类型：
--
作者：
Tamborini E;Agus V;Mezzelani A;Riva C;Sozzi G;Azzarelli A;Pierotti MA;Pilotti S
滑膜肉瘤（SS）的细胞遗传学特征是易位t（X;18）（p11.2-q11.2），导致18号染色体上的SYT基因与X号染色体上的SSX家族基因（SSX 1; SSX 2; SSX 4）的一个成员融合。在这里，我们报告的第一次，2种形式的SYT mRNA存在于正常组织和SS。通过扩增两个SS的全长SYT cDNA，我们检测到两条带，在这里命名为N-SYT和I-SYT。后者，以前未描述的，包含一个93 bp的框内插入。 测序结果表明，该基因与小鼠SYT基因同源性为100%。这两种SYT形式存在于所检查的所有人类正常组织中，尽管量不同，包括肾、胃、肺、结肠、肝和滑膜。在一系列的59个SS（35个单相和24个双相）和一个SS细胞系中检测到N-SYT和I-SYT（均与SSX融合）的共存。N-SYT和I-SYT在SS中的差异表达水平的初步分析显示，后者一贯过表达，这表明在SS发病机制中的作用。© 2001年癌症研究运动http://www.bjcancer.com
Synovial sarcoma (SS) is cytogenetically characterized by the translocation t(X;18)(p11.2-q11.2) generating a fusion between the SYT gene on chromosome 18 and one member of the SSX family gene (SSX1; SSX2; SSX4) on chromosome X. Here, we report for the first time that 2 forms of SYT mRNA are present in both normal tissues and SSs. By amplifying the full-length SYT cDNA of two SSs, we detected 2 bands, here designated N-SYT and I-SYT. The latter, previously undescribed, contains an in-frame insertion of 93 bp. Its sequencing revealed a 100% homology with the mouse SYT gene. These two SYT forms were present, although in different amounts, in all human normal tissues examined, including kidney, stomach, lung, colon, liver and synovia. Coexistence of N-SYT and I-SYT (both fused with SSX) was detected in a series of 59 SSs (35 monophasic and 24 biphasic) and in a SS cell line. A preliminary analysis of the differential expression levels of N-SYT and I-SYT in SSs revealed that the latter was consistently overexpressed, suggesting a role in SS pathogenesis. © 2001 Cancer Research Campaign http://www.bjcancer.com