Identification of a novel spliced variant of the SYT gene expressed in normal tissues and in synovial sarcoma.
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.
Tamborini
E
E
Department of Pathology, Istituto Nazionale per lo Studio e la Cura dei Tumori, Via G. Venezian, Milano, 1 20133, Italy.
Agus
V
V
Mezzelani
A
A
Riva
C
C
Sozzi
G
G
Azzarelli
A
A
Pierotti
M A
MA
Pilotti
S
S
D017398:Alternative Splicing; D001483:Base Sequence; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D015972:Gene Expression Regulation, Neoplastic; D014644:Genetic Variation; D006801:Humans; D008969:Molecular Sequence Data; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D011506:Proteins / Q000235:genetics*; D011518:Proto-Oncogene Proteins; D012313:RNA / Q000235:genetics / Q000378:metabolism; D012097:Repressor Proteins; D013584:Sarcoma, Synovial / Q000235:genetics* / Q000473:pathology; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D012689:Sequence Homology, Nucleic Acid; D014018:Tissue Distribution; D014407:Tumor Cells, Cultured
D018076:DNA, Complementary; D015514:Oncogene Proteins, Fusion; D011506:Proteins; D011518:Proto-Oncogene Proteins; D012097:Repressor Proteins; C093961:SS18 protein, human; C116512:SYT-SSX fusion protein; C501211:Ss18 protein, mouse; D012313:RNA