|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “T brachyury transcription factor.”
T is the gene's official symbol. The T gene is also known by other names, listed below.
The T gene provides instructions for making a protein called brachyury. Brachyury is a member of a protein family called T-box proteins, which play critical roles during embryonic development. T-box proteins regulate the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, T-box proteins are called transcription factors.
The brachyury protein is important for the development of the notochord, which is the precursor of the spinal column in the embryo. The notochord disappears before birth, but in a small percentage of individuals, some of its cells remain in the base of the skull or in the spine. The notochord helps control the development of the neural tube, which is a layer of cells that ultimately develops into the brain and spinal cord.
The T gene belongs to a family of genes called TBX (T-boxes).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
Changes in the T gene have been associated with chordoma. A chordoma is a cancerous tumor that occurs along the spine or in the base of the skull, gradually extending further into the bone and into nearby soft tissue. The tumor develops from residual cells of the notochord that begin to grow and divide uncontrollably.
An inherited duplication of the T gene identified in a few families is associated with an increased risk of developing a chordoma. Duplications or increases in activity (expression) of the T gene have also been identified in people with chordoma who have no history of the disorder in their family. In these individuals, the changes occur only in the tumor cells and are not inherited.
Duplications and increases in expression of the T gene both result in the production of excess brachyury protein. The specific mechanism by which excess brachyury protein contributes to the development of chordomas is unclear.
A variation of the T gene is associated with an increased risk of neural tube defects, including spina bifida. Neural tube defects, which can result in spine and brain abnormalities of varying severity, result when the neural tube fails to close completely during the first few weeks of embryonic development.
The T gene variation associated with neural tube defects, known as TIVS7 T/C, changes a single DNA building block (nucleotide) in a region of the gene known as intron 7. The effect of this genetic change is unclear. Researchers suggest that it may affect the regulation of brachyury protein production in early development, increasing the risk of neural tube defects.
Cytogenetic Location: 6q27
Molecular Location on chromosome 6: base pairs 166,157,656 to 166,168,669
The T gene is located on the long (q) arm of chromosome 6 at position 27.
More precisely, the T gene is located from base pair 166,157,656 to base pair 166,168,669 on chromosome 6.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about T helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
DNA ; duplication ; embryo ; embryonic ; gene ; inherited ; intron ; neural tube defects ; nucleotide ; precursor ; protein ; soft tissue ; tissue ; transcription ; transcription factor ; tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.