T-box transcription factor T

T-box transcription factor T (TBXT), also known as T (Brachyury gene), is a protein that in humans is encoded by the TBXT gene. This gene is a member of the T-box family of genes, which are involved in the regulation of developmental processes. TBXT is a crucial transcription factor involved in the formation and differentiation of the mesoderm and the axial development in vertebrates, including humans.

Function

TBXT plays a pivotal role in the early stages of embryonic development. It is essential for the proper formation of the mesoderm, which is a key germ layer that gives rise to the muscles, bones, and other connective tissues. TBXT functions by binding to specific DNA sequences and regulating the expression of genes involved in cell growth, differentiation, and developmental processes. Its activity is critical for the development of the notochord, a structure that serves as a skeletal support in early development and is a precursor to the vertebral column.

Genetics

The TBXT gene is located on the long (q) arm of chromosome 6 at position 27.3, from base pair 121,435,779 to base pair 121,485,682. Mutations in the TBXT gene have been associated with several developmental disorders, including spina bifida and TAR syndrome. These conditions are characterized by defects in the development of the spine and limbs, respectively, highlighting the gene's importance in proper embryonic development.

Clinical Significance

Research has shown that variations in the TBXT gene are linked to congenital malformations affecting the spine and spinal cord. For instance, mutations in this gene can lead to spina bifida, a condition where the spinal cord does not develop properly, leading to physical and neurological issues. Understanding the genetic and molecular mechanisms of TBXT function and its role in disease can provide insights into the development of targeted therapies for these conditions.

Evolutionary Aspect

The TBXT gene is highly conserved across different species, indicating its fundamental role in the development of the mesoderm and notochord. Studies in model organisms, such as mice and zebrafish, have contributed to our understanding of TBXT's function and its evolutionary significance in vertebrate development.

See Also

• Transcription factor
• Mesoderm
• Notochord
• Genetic disorder