Source:http://linkedlifedata.com/resource/pubmed/id/19586889
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
2009-7-9
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pubmed:abstractText |
To explore the mechanism of TBX5 abnormal expression in simple congenital heart disease (CHD), 100 CHD venous blood, 50 CHD heart tissues, and 5 non-CHD heart tissues were involved in this study. The mutation and methylation in the 1 200 bp region upstream of TBX5 gene were detected by high-performance liquid chromatography (DHPLC) and methylation-sensitive restriction endonuclease (MS-RE), respectively. The binding site of NKX2-5 to Tbx5 predicted by P-MATCH software was validated by EMSA (Electrophoretic mobility shift assay). Tbx5 gene expression in mouse cardiac muscle cell H9C2(2-1) transfected with NKX2-5 expression vector was evaluated. No mutation was found in all patients. Both non-CHD and CHD heart tissues had the same methylation in the two CpG islands. Exogenous Nkx2-5 efficiently activated the transcription of the endogenous Tbx5 gene in H9C2 (2-1) cells. EMSA showed that the special binding band appeared when Nkx2-5 existed. These results indicates that the down expression of TBX5 might not be caused by mutation and methylation in the 1 200 bp region upstream of gene, and might be regulated by abnormal expression of NKX2-5 gene in heart muscle of CHD.
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pubmed:language |
chi
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0253-9772
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
31
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
374-80
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pubmed:meshHeading |
pubmed-meshheading:19586889-Animals,
pubmed-meshheading:19586889-CpG Islands,
pubmed-meshheading:19586889-DNA Methylation,
pubmed-meshheading:19586889-Electrophoretic Mobility Shift Assay,
pubmed-meshheading:19586889-Female,
pubmed-meshheading:19586889-Heart Defects, Congenital,
pubmed-meshheading:19586889-Humans,
pubmed-meshheading:19586889-Infant, Newborn,
pubmed-meshheading:19586889-Mice,
pubmed-meshheading:19586889-Pregnancy,
pubmed-meshheading:19586889-Promoter Regions, Genetic,
pubmed-meshheading:19586889-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:19586889-T-Box Domain Proteins
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pubmed:year |
2009
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pubmed:articleTitle |
[The mechanism of TBX5 abnormal expression in simple congenital heart disease].
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pubmed:affiliation |
Department of Medical Genetics, China Medical University, Shenyang 110001, China. znnadi@163.com
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pubmed:publicationType |
Journal Article,
English Abstract
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