T gene isoform expression pattern is significantly different between chordomas and notochords.

摘要: The T gene plays a key role in chordoma pathology. To investigate the of isoforms chordoma, 22 skull base chordomas, three cell lines and 9 infant notochords, which were used as normal controls, collected. We first conducted droplet digital PCR to quantify absolute expression levels long short (T-long T-short, respectively) revealed that T-long was dominantly expressed all chordomas lines, but not notochords. T-long/T-short ratio significantly different between Next, we validated isoform pattern at protein level using Western blot chordomas. Furthermore, single nucleotide polymorphism site rs2305089, is only marker reported be associated with sequenced samples. Association rs2305089 significant, indicating it involved alternative splicing. In conclusion, two investigated longer expressed. distinct patterns these may contribute pathogenesis However, further studies on function are needed.