TBX3


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TBX3

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; TBX3 is a transcriptional repressor and thought to play a role in orienting the anterior/posterior axis of the tetrapod forelimb.

Molecular pathology
TBX3 mutations cause ulnar-mammary syndrome, which affects limb, apocrine gland, tooth, hair and genital development.
References in periodicals archive ?
Noted differences were that expression of basal (Hoxb13) and luminal (CK8 and Tbx3) lineage markers in rats exposed in vivo to 2.5 [micro]g BPA/kg-BW and in vitro to 1 nM [E.sub.2] were higher in comparison with vehicle controls.
Nevertheless, this intensive growth rate was reflected in the hypothalamic activity, because numerous genes associated with hormone status regulation were overexpressed (CGA, ALDH1A1, TBX3, IGF2, POMC, GHRH, and ALDH6).
Interestingly, it was concluded that dCas9-LSD1 was enhancer-specific; however, the specificity of the dCas9-KRAB complex was questionable, for it may actually be silencing the promoter or changing the chromatin structure instead of targeting the enhancer to achieve Tbx3 downregulation.
Tbx3, the ulnar-mammary syndrome gene, and Tbx2 interact in mammary gland development through a p19Arf/p53-independent pathway Dev Dyn 2005;234:922-33.
Tbx3 and Pax6 however, provided all the instructions necessary for the cells to form retina.
The combined effect of genetic variants for 4 genes associated with PSA concentrations [TERT (telomerase reverse transcriptase), FGFR2 (fibroblast growth factor receptor 2), TBX3 (T-boxprotein 3), and KLK3] has been studied in 2 populations (in Iceland and the UK), on the assumption of a multiplicative model.
reported that overexpression of Tbx3 in mouse ESCs promoted their differentiation into pacemaker cells, and in combination of cardiacspecific promoter antibiotic selection, >80% of the obtained cardiomyocytes exhibited a pacemaker-like phenotype [56].
Trabulo et al, "MiR-93 controls adiposity via inhibition of Sirt7 and Tbx3," Cell Reports, vol.
These transcription factors activate repressed pattern of gene expression like GATA binding transcription factor 4/6 (GATA4/6) and caudal type homeobox 2 (CDX), which mediate phenotypic changes toward endoderm during stem cell differentiation, and repress activated pattern of gene expression for differentiation to mesoderm and ectoderm like T-box transcription factor 3 (TBX3) and estrogen-related receptor beta (ESRRB) (Boyer et al., 2005).
The biologic and genetic mechanisms controlling the formation and function of the CCS are not well understood, but new research with mice shows that mutation of Tbx3 gene interferes with the development of the CCS and causes arrhythmias.
Other SNPs that reached genome-wide significance were rs401681 and rs2736098 near the TERT (telomerase reverse transcriptase) gene on chromosome 5, rs10788160 near the FGFR2 (fibroblast growth factor receptor 2) gene, rs10993994 near the MSMB (microseminoprotein, beta-) gene (as in prior studies) on chromosome 10, rs11067228 near the TBX3 (T-box 3) gene on chromosome 12, and rs4430796 at the HNF1B (HNF1 homeobox B) gene on chromosome 17.
SC-TFs used here include CTNNB1 ([beta]-catenin), FOXM1, FOXO3, GLI2, HIF1A, HMGA1B, KLF4, MAF (c-MAF), MCM2, NANOG, POU5F1 (Oct-3/4), PRDM14, SNAI1 (Snail), SOX2, SOX9, STAT3, WWTR1, TBX3, TWIST1, ZEB1, LIN28A, LIN28B, and MYC (c-Myc) [18-30].