Identification of novel genes, SYT and SSX, involved in the t(X;18)(p11.2;q11.2) translocation found in human synovial sarcoma

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Chromosomes, Human, Pair 18*
  • DNA Primers / genetics
  • DNA, Complementary / genetics
  • DNA, Neoplasm / genetics
  • Gene Rearrangement
  • Humans
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • RNA, Neoplasm / genetics
  • Restriction Mapping
  • Sarcoma, Synovial / genetics*
  • Translocation, Genetic*
  • Tumor Cells, Cultured
  • X Chromosome*


  • DNA Primers
  • DNA, Complementary
  • DNA, Neoplasm
  • RNA, Neoplasm

Associated data

  • GENBANK/X79200
  • GENBANK/X79201