IR@PKUHSC  > 北京大学第二临床医学院
学科主题临床医学
GATA4 transgenic mice as an in vivo model of congenital heart disease
Han, Hua; Chen, Yu; Liu, Gang; Han, Zengqiang; Zhao, Zhou; Tang, Yin
关键词congenital heart disease GATA4 atrial septal defect transgenic mouse
刊名INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
2015-06-01
DOI10.3892/ijmm.2015.2178
35期:6页:1545-1553
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Medicine, Research & Experimental
研究领域[WOS]Research & Experimental Medicine
关键词[WOS]TRANSCRIPTION ; MORPHOGENESIS ; MUTATION ; DEFECTS ; NKX2-5 ; TBX5 ; DIFFERENTIATION ; EXPRESSION ; CONDUCTION ; PROMOTERS
英文摘要

Our previous study indicated that 8 patients from a family with a history of congenital heart disease had simple atrial septal defect (ASD) and carried the same mutation at codon 310 in the GATA4 gene. In the present study, to identify the functional defects caused by this mutation in an in vivo model, the transgene DNA constructs were microinjected into mice to generate a transgenic mouse model. The mice were genotyped using PCR and DNA sequencing. Protein expression was measured by western blot analysis. qPCR was used to determine the copy number of the transgenes. The heart tissue was fixed and sectioned by conventional procedures. The Vevo 2000 system was used to perform echocardiography on the mice. The expression of GATA4 target genes was measured using the real-time PCR system. The incidence of ASD in the heterozygous transgenic mice was found to be greater than that in the wild-type control mice (P<0.05). In addition, the expression of alpha-myosin heavy chain (alpha-MHC) in the heart tissues from the homozygous mice was lower than that in the heart tissues from their wild-type littermates (P<0.05). In conclusion, these results suggest that the introduction of GATA4 M310V negatively affects the normal expression of alpha-MHC. In accordance with previous findings on GATA4 mutation screening and in vitro experiments, this study confirms that GATA4 M310V mutation may lead to the development of the congenital heart defect, ASD.

语种英语
WOS记录号WOS:000354081100007
Citation statistics
Cited Times:3[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/58776
Collection北京大学第二临床医学院
作者单位Peking Univ, Peoples Hosp, Dept Cardiovasc Surg, Beijing 100044, Peoples R China
Recommended Citation
GB/T 7714
Han, Hua,Chen, Yu,Liu, Gang,et al. GATA4 transgenic mice as an in vivo model of congenital heart disease[J]. INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE,2015,35(6):1545-1553.
APA Han, Hua,Chen, Yu,Liu, Gang,Han, Zengqiang,Zhao, Zhou,&Tang, Yin.(2015).GATA4 transgenic mice as an in vivo model of congenital heart disease.INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE,35(6),1545-1553.
MLA Han, Hua,et al."GATA4 transgenic mice as an in vivo model of congenital heart disease".INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE 35.6(2015):1545-1553.
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