The EWS gene, involved in Ewing family of tumors, malignant melanoma of soft parts and desmoplastic small round cell tumors, codes for an RNA binding protein with novel regulatory domains.

摘要: Abstract The EWS gene, which maps to band q12 of human chromosome 22, is involved in a wide variety solid tumors including Ewing sarcoma, related primitive neuroectodermal tumors, malignant melanoma soft parts and desmoplastic small round cell tumors. In these the fused genes encoding transcriptional activators/repressors, like Fli-1 or erg ATF 1 wt1. To better understand function protein, we cloned cDNA. Sequence analysis this cDNA revealed differential splicing involving two exons 72 amino acids. Both alternatively spliced transcripts, EWS-b, are expressed cells. Because proteins contain putative conserved RNA binding motifs, studied properties protein. EWS-b protein binds vitro and, specifically, poly G U. activity was localized carboxy terminal 86 acids, constitute RGG box. Thus domain (NTD-EWS), translocation may regulate specificity EWS. An EWS-erg chimeric found Ewing's sarcoma cells, functions as activator. Mutational that NTD-EWS regulatory for activation