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 ?
Holt--Oram syndrome is a rare autosomal dominant condition resulting from a gene mutation on 12q24.1 (TBX5) and causes anomalies in bony segment of the upper limbs and the cardiovascular system (1).
Dort ailede ise iliskili genlerdeki (SF3B4, SALL4, TBX5, FANCA) mutasyonlar calisma oncesinde molekuler analizlerle belirlenmisti.
Briefly, Hand1 null (at e7.5-9.5) and Tbx5 null (at e9.5-10.5) mice are characterized by arrested cardiac development.
Direct reprogramming of fibroblasts into cardiomyocyte-like cells was first reported in 2010 using viral overexpression of three important cardiac developmental transcription factors (TFs), Gata4, Mef2c, and Tbx5 (GMT) in mouse cardiac and tail-tip fibroblasts [11].
Holt-Oram syndrome was previously excluded due to the lack of cardiac malformations and, more definitively, the lack of mutations within the TBX5 gene.
We also included potential upstream genes such as Csf1r [30], Gata4, Nkx2.5, and Tbx5 [31].
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.
The protein NCBI IDs, NP_542377.1 (Tbx1), NP_005985.3 (Tbx2), NP_005987.3 (Tbx3), NP.001308049.1 (Tbx4), and NP.000183.2 (Tbx5).
T-box transcription factor 5 (TBX5) expression is high in RASFs and both H3K4me3 and histone acetylation are increased in the TBX5 promoter in RASFs [85].
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.