Anti-SSX3 (full length) polyclonal antibody

The human synovial sarcoma-specific translocation t(X;18) results in the fusion of the SYT gene on chromosome 18 with either one of the Kruppel-associated box (KRAB) containing SSX1 or SSX2 genes on the X chromosome, depending on the exact location of the breakpoint within band Xp11.2. Screening of a testis cDNA library yielded several SSX-positive clones. Subsequent sequence analysis revealed that one third of these clones represent an SSX gene that differs from both SSX1 and SSX2. This novel member of the family of KRAB containing SSX genes, which we designated SSX3, is 90 % homologous to SSX1 and 95 % homologous to SSX2 at the cDNA level, Somatic cell hybrid analysis indicated that SSX3 maps within Xp11.2-->p11.1, the region that also harbors the SSX1 and SSX2 genes. However, we conclude from our RT-PCR data and from results reported in the literature that SSX3 does not act as a fusion partner to SYT in any of the 44 independent synovial sarcomas thus far tested.

The Xp11.22-p11.23 duplication syndrome was described in 2009 by Giorda et al and is characterized by intellectual disability, speech delay, and electroencephalography anomalies. We report a case of a 23-month-old girl who presented with epilepsy and global developmental delay and who had a small duplication at Xp11.23. The case we present here is the first case showing the clinical features of Xp11.22-p11.23 duplication syndrome only involving synovial sarcoma, X breakpoint (SSX) genes: SSX1, SSX3, SSX4, and SSX9. This case report contributes to an expanding clinical spectrum of Xp11.22-p11.23 duplication syndrome.