Brachyury
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| T, brachyury homolog (mouse)
| |
| Identifiers | |
| Symbol | T |
| Entrez | 6862 |
| HUGO | 11515 |
| OMIM | 601397 |
| RefSeq | NM_003181 |
| UniProt | O15178 |
| Other data | |
| Locus | Chr. 6 q27 |
The brachyury mutation was first described in mice by Nadine Dobrovolskaïa-Zavadskaïa in 1927 as a mutation that affected tail length and sacral vertebrae in heterozygous animals and is lethal in homozygous animals around embryonic day 10 due to defects in mesoderm formation, notochord differentiation and the absence of structures posterior to the forlimb bud (Dobrovolskaïa-Zavadskaïa, 1927). The name brachyury comes from the Greek brakhus meaning short and oura meaning tail.
According to human and mouse genome nomenclature, brachyury now has the symbol and gene name T although brachyury is maintained as the gene description.
The mouse T gene was cloned by Bernhard Herrmann and colleagues (Herrmann et al., 1990) and proved to encode an 436 amino acid embroynic nuclear transcription factor. T binds to a specific DNA element, a near palindromic sequence TCACACCT through a region in its N-terminus, called the T-box. T is the founding member of the T-box family which in mammals currently consists of 18 T-box genes.
Contents |
Function
Transcription of genes required for mesoderm formation and cellular differentiation.
Expression
In mice T is expressed in the inner cell mass of the blastocyst stage embryo (but not in the majority of mouse embryonic stem cells) followed by the primitive streak (see image). In later development expression is localised to the node and notochord.
In Xenopus laevis Xbra (the Xenopus T homologue, also recently renamed t) is expressed in the mesodermal marginal zone of the pre-gastrula embryo followed by localisation to the blastopore and notochord at the mid-gastrula stage.
The Danio rerio homologue is known as ntl (no tail)
Cancer
Expression of the brachyury gene has been identified as a definitive diagnostic marker of chordoma, a malignant tumour typically occurring along the spinal cord. This confirms the hypothesis that chordoma arise from cells related to the notochord.
See also
- Nanog (transcription factor)
- Sox2
- Transcription factors
- Gene regulatory network
- Bioinformatics
- Chordoma
Sources
- [1] Herrmann et al., 1990 Cloning of the T gene required in mesoderm formation in the mouse (Pubmed)
- [2] Demonstration of T expression in the mouse blastocyst: Yoshikawa et al., 2006 High-throughput screen for genes predominantly expressed in the ICM of mouse blastocysts by whole mount in situ hybridization (Pubmed)
- [3] Entrez Gene entry for Human T
- [4] Mouse Genome Informatics entry for T
- [5] European Bioinformatics Institute InterPro entry for Brachyury
- [6] Information Hyperlinked Over Proteins entry for Brachyury
- [7] Brachyury as a definitive marker for diagnosis of Chordoma
- [8] Xenbase Gene entry for t
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Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
