TBX5

TBX5

A gene on chromosome 12q24.1 that encodes a DNA-binding member of the phylogenetically conserved family of genes that have a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in regulating development; TBX5 plays a role in cardiac development and specification of limb identity.
 
Molecular pathology
TBX5 mutations are associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limb.
References in periodicals archive ?
5 (ubiquitin carboxy-terminal hydrolase L1; Uchll), Shox2 (short stature homeobox 2), Tbx3 (T-box 3), and Tbx5 (T-box 5)] are shown in Supplemental Material, Table S1.
Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation.
Real-time PCR was used to detect mRNA expression of Nkx2-5, GATA4 and TBX5 in the heart of chicken, quail and chicken-quail hybrids embryos during 3rd to 7th days of incubation.
In the present study, expression of the three genes: Nkx2-5, GATA4 and TBX5, were determined in the heart of chicken, quail and chicken-quail hybrids embryos during the 3rd, 4th, 5th, 6th and 7th days of incubation.
Three weeks later, the rats received Gata4, Mef 2c and Tbx5 (the cocktail of transcription factor genes called GMT) or an inactive material.
Three weeks later, the rats received either Gata4, Mef 2c and Tbx5 (the cocktail of transcription factor genes called GMT) or an inactive material.
and colleagues from UT Southwestern show that four gene-regulatory proteins - GATA4, HAND2, MEF2C, and TBX5 (GHMT) - can convert cardiac fibroblasts into beating cardiac-like muscle cells.
Interacting with other transcription factors like GATA4 and TBX5, NKX2-5 modulates expression of the genes which are required for morphogenesis and function of the heart (22, 23).
Researchers already knew that in mammals and birds, a gene called TBX5 is active during development on the left side of the heart where the left ventricle forms, but not on the right side.
Benoit Bruneau of the Gladstone Institute of Cardiovascular Disease, who studies the transcription factor, Tbx5, in early stages of embryological development, has called it "a master regulator of the heart.
The heartstrings mutation in zebrafish causes heart/fin Tbx5 deficiency syndrome.
When we finally identified the key factor that could work with GATA4 and TBX5 to turn cells into beating heart cells, it was somewhat of a surprise to us," Bruneau added.