Brachyury
3636821
191676739
2008-02-15T17:16:37Z
Pwb
687656
{{protein
| Name = T, brachyury homolog (mouse)
| caption =
| image =
| width =
| HGNCid = 11515
| Symbol = T
| AltSymbols =
| EntrezGene = 6862
| OMIM = 601397
| RefSeq = NM_003181
| UniProt = O15178
| PDB =
| ECnumber =
| Chromosome = 6
| Arm = q
| Band = 27
| LocusSupplementaryData =
}}
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.
[[Image:Paul_Burridge_Brachyury_in_E7.5.jpg|thumb||right|Brachyury expression in 7.5dpc CD1 mouse embryos]]
== Function ==
Transcription of genes required for [[germ layer#Mesoderm|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==
*[[Homeobox protein NANOG]]
*[[POU5F1]]
*[[SOX2]]
*[[MIXL1]]
*[[GSC]]
*[[EOMES]]
*[[Transcription factors]]
*[[Gene regulatory network]]
*[[Bioinformatics]]
*[[Chordoma]]
==Sources==
*[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=2154694] Herrmann ''et al''., 1990 Cloning of the T gene required in mesoderm formation in the mouse (Pubmed)
*[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16325481&dopt=Abstract] 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)
*[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=Retrieve&dopt=full_report&list_uids=6862] Entrez Gene entry for Human T
*[http://www.informatics.jax.org/javawi2/servlet/WIFetch?page=markerDetail&key=13727] Mouse Genome Informatics entry for T
*[http://www.ebi.ac.uk/interpro/IEntry?ac=IPR002070] European Bioinformatics Institute InterPro entry for Brachyury
*[http://www.ihop-net.org/UniPub/iHOP/gs/124990.html] Information Hyperlinked Over Proteins entry for Brachyury
*[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=Abstract&list_uids=16538613&query_hl=1&itool=pubmed_docsum] Brachyury as a definitive marker for diagnosis of Chordoma
*[http://xlaevis.cpsc.ucalgary.ca/gene/showgene.do?method=display&geneId=478788] Xenbase Gene entry for t
[[Category:Transcription factors]]
[[Category:Embryology]]
[[Category:Genes]]
{{developmental-biology-stub}}