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This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human ortholog of mouse Tbx21/Tbet gene. Studies in mouse show that Tbx21 protein is a Th1 cell-specific transcription factor that controls the expression of the hallmark Th1 cytokine, interferon-gamma (IFNG). Expression of the human ortholog also correlates with IFNG expression in Th1 and natural killer cells, suggesting a role for this gene in initiating Th1 lineage development from naive Th precursor cells. Among twenty-three novel polymorphisms identified in the human TBX21 gene of Korean asthma patients, no significant associations of TBX21 variants with risk of asthma were observed. Association seen between type 1 diabetes and polymorphisms in the T-bet gene; variation in T-bet transcriptional activity may play a role in the development of type 1 diabetes, possibly through the effect on IFN-gamma production in Th1 cells. Data indicate that T-bet can override repressive epigenetic modification through a T-box half-site and dissociation of the mSin3a corepressor from the promoter. Expressed in Hodgkin disesase Reed Sternberg cells. T-bet expression in T(H)2 cells induced IL-2 production and decreased the secretion of IL-4. T-bet may play a role in Hodgkin's lymphoma oncogenesis. T-bet was clearly induced in the two B-cell precursor-leukemia cell lines. VZV virus and mite antigens induce expression of this transcriptionn factor in cord blood mononuclear cells, differenetially affecting Th1 and Th2 cells. Distribution of T-BET/TBX21 expression in the haematopoietic compartment. First report demonstrating relationship between TBX21 single nucleotide polymorphisms and aspirin-induced asthma in Japanese. Genetic variation in TBX21 may alter asthma phenotypes in a treatment-specific fashion.
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