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

Area of Science:

• Oncology
• Molecular Biology
• Genetics

Background:

• The T gene is implicated in chordoma development.
• Understanding T gene isoform roles is crucial for chordoma research.

Purpose of the Study:

• To investigate the expression patterns of T gene isoforms in skull base chordomas.
• To determine the relationship between T gene isoforms and chordoma pathology.

Main Methods:

• Droplet digital PCR was used to quantify T-long and T-short mRNA expression.
• Western blot validated protein expression of T gene isoforms.
• Sequencing analyzed the T gene SNP rs2305089.

Main Results:

• T-long was predominantly expressed in chordomas and cell lines, unlike notochords.
• A significant difference in the T-long/T-short ratio was observed between chordomas and controls.
• The SNP rs2305089 was not associated with T gene alternative splicing.

Conclusions:

• The T gene's longer isoform is dominantly expressed in skull base chordomas.
• Distinct T gene isoform expression may contribute to chordoma pathogenesis.
• Further functional studies on T gene isoforms are warranted.