The full name of the EWSR1 gene is Ewing sarcoma breakpoint region 1 gene. First discovered in Ewing’s sarcoma, located at 22q12, consisting of 17 exons, encoding a nuclear protein of 656 amino acids. It is an RNA binding protein. It plays an important role in mitotic cell separation, spindle formation, microtubule stability, DNA repair and cell senescence. It belongs to the cytokine TET family members, which controls cell growth.
PROBE DESCRIPTION
EWSR1 gene break apart probe uses orange dye to label the 5’end region of EWSR1 gene and green dye to label the 3’end region of EWSR1 gene. EWSR1 gene break apart probe can detect all EWSR1 gene rearrangements.
CLINICAL SIGNIFICANCE
EWSR1 gene family members have TLS/FUS and TAFl5 genes, all of which are involved in gene translocation of various soft tissue sarcomas, and are fused with transcription factor genes containing the DNA binding domain to form new fusion transcription factors with obvious Tumorigenic effect. Detecting whether EWSR1 gene is broken or not, can be used as auxiliary diagnosis basis for Ewing’s sarcoma family tumor.
References
Rekhi B, et al. (2012) Virchows Arch 461: 687-97.
Romeo S & Dei Tos AP (2010) Virchows Arch 456: 219-34