Gene loci
- TBXT (Brachyury) located on chromosome 6q27.
Normal function
- A transcription factor encoded by T, a member of the T-box gene family
- Required for
- Posterior mesoderm formation and differentiation
- Notochord development during embryogenesis
- Posterior mesoderm differentiation.
- Down regulated post embryonic differentiation
- Notochordal cells are replaced by bone in the vertebral bodies and by the nucleus pulposus in the intervertebral discs
Mutation effects
- Heterozygous mutations cause sacral agenesis, vertebral anomalies, neural tube defects.
- Homozygous lethal with posterior truncation, notochord defects.
- Overexpression promotes EMT, invasion, metastasis via MMPs, Snail, Slug.
Clinical association
- Overexpressed in
- Chordomas (diagnostic marker, 90%), drives stemness, growth.
- Stromal cells of haemangioblastoma
- Prostate cancer, NSCLC, glioma (tumor suppressor in glioma?), colorectal cancer.
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