Alternative titles; symbols
HGNC Approved Gene Symbol: PRSS50
Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38) : 3:46,712,117-46,717,869 (from NCBI)
Using representational difference analysis, Yuan et al. (1999) identified TSP50 as a hypomethylated gene in breast cancer biopsy samples. They obtained the full-length cDNA by screening a testis cDNA library. The deduced 385-amino acid protein shares about 50% identity with several mammalian serine proteases. Northern blot analysis detected a 1.7-kb transcript expressed exclusively in testis.
Shan et al. (2002) determined that, while TSP50 shares significant identity with several serine proteases, the catalytic serine is replaced by threonine. Immunohistochemical analysis showed TSP50 expressed in spermatocytes, but not in mature sperm. Western blot analysis detected TSP50 in 92% of breast cancer samples tested, but not in normal matched tissues. In situ hybridization confirmed expression of TSP50 in malignant breast cancer cells.
Yuan et al. (1999) demonstrated that TSP50 DNA methylation correlated with lack of TSP50 expression in bladder, blood, breast, colon, lung, kidney, placenta, and ovary tissues, while demethylation correlated with its expression in testis. TSP50 was both abnormally hypomethylated and expressed in some breast and ovarian cancers, but not in the corresponding normal tissues.
Yuan et al. (1999) determined that the TSP50 gene contains at least 4 exons.
By somatic cell hybrid analysis and radiation hybrid analysis, Yuan et al. (1999) mapped the TSP50 gene to chromosome 3p14-p12.
Shan, J., Yuan, L., Xiao, Q., Chiorazzi, N., Budman, D., Teichberg, S., Xu, H. TSP50, a possible protease in human testes, is activated in breast cancer epithelial cells. Cancer Res. 62: 290-294, 2002. [PubMed: 11782390]
Yuan, L., Shan, J., De Risi, D., Broome, J., Lovecchio, J., Gal, D., Vinciguerra, V., Xu, H. Isolation of a novel gene, TSP50, by a hypomethylated DNA fragment in human breast cancer. Cancer Res. 59: 3215-3221, 1999. [PubMed: 10397268]