RGD Reference Report - DNA methylation status of TBX20 in patients with tetralogy of Fallot. - Rat Genome Database

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DNA methylation status of TBX20 in patients with tetralogy of Fallot.

Authors: Gong, Juan  Sheng, Wei  Ma, Duan  Huang, Guoying  Liu, Fang 
Citation: Gong J, etal., BMC Med Genomics. 2019 May 28;12(1):75. doi: 10.1186/s12920-019-0534-3.
RGD ID: 155882584
Pubmed: PMID:31138201   (View Abstract at PubMed)
PMCID: PMC6540552   (View Article at PubMed Central)
DOI: DOI:10.1186/s12920-019-0534-3   (Journal Full-text)


BACKGROUND: TBX20 plays an important role in heart development; however, its epigenetic regulation in the pathogenesis of tetralogy of Fallot (TOF) remains unclear.
METHODS: The methylation levels of the TBX20 promoter region in the right ventricular myocardial tissues of TOF and control samples were measured by the Sequenom MassARRAY platform. Bisulphite-sequencing PCR (BSP) was used to confirm the TBX20 methylation of CpG sites in cells. Dual-luciferase reporter assays were performed to detect the influence of TBX20 methylation and Sp1 transcription factors on gene activity. An electrophoretic mobility shift assay (EMSA) was used to explore the binding of the Sp1 transcription factor to the TBX20 promoter.
RESULTS: TOF cases had a significantly lower TBX20_M1 methylation level than controls (median methylation: 20.40% vs. 38.73%; p = 0.0047). The Sp1 transcription factor, which binds to Sp1 binding sites in the TBX20_M1 region and promotes TBX20 gene activity, was blocked by the methylation of Sp1 binding sites in normal controls. With decreasing methylation in the TOF cases, the Sp1 transcription factor can bind to its binding site within the TBX20 promoter M1 region and promote TBX20 gene expression.
CONCLUSIONS: Hypomethylation of the TBX20 promoter region was observed in the TOF cases, and the high expression of the TBX20 gene may be caused by activated Sp1 transcription factor binding because of the decreasing methylation at the Sp1 transcription factor binding sites within TBX20_M1.



RGD Manual Disease Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
TBX20Humantetralogy of Fallot  IDA DNA:hypomethylation:promoterRGD 
Tbx20Rattetralogy of Fallot  ISOTBX20 (Homo sapiens)DNA:hypomethylation:promoterRGD 
Tbx20Mousetetralogy of Fallot  ISOTBX20 (Homo sapiens)DNA:hypomethylation:promoterRGD 

Objects Annotated

Genes (Rattus norvegicus)
Tbx20  (T-box transcription factor 20)

Genes (Mus musculus)
Tbx20  (T-box 20)

Genes (Homo sapiens)
TBX20  (T-box transcription factor 20)


Additional Information