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 ?
17],[18] As transcriptional co-activators, TAZ and YAP themselves cannot directly bind DNA but must form complexes with DNA-binding transcription factors, such as TEADs, Smads, and TBX5, to regulate the expression of downstream targets.
Rosengart, a team of researchers showed that administration of a cocktail made of transcription factors Gata4, Mef2c and Tbx5 (GMT) resulted in less scar tissue, or fibrosis, and up to a 50 percent increase in cardiac function in small animal models of the disease.
About 70% of the patients who meet the clinical diagnostic criteria have a mutation in TBX5 genes, which is associated with cardiac and skeletal development.
Mutations in the gene TBX5 have been shown to cause both rare and more prevalent forms of congenital heart disease, yet the underlying mechanisms have remained unclear.
Transcriptional regulation of the murine Connexin40 promoter by cardiac factors Nkx2-5, GATA4 and Tbx5," Cardiovascular Research, vol.
12 One form of Holt-Oram syndrome is caused by mutations in TBX5.
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.
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.
Three weeks later, the rats received Gata4, Mef 2c and Tbx5 (the cocktail of transcription factor genes called GMT) or an inactive material.
and colleagues from UT Southwestern showed 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).