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Missense mutation G296S in GATA4 is not responsible for cardiac septal defects.

ABSTRACT: BACKGROUND:The most common type of congenital heart disease is the cardiac septal defects, which has reported to be caused by a missense mutation (G296S) in exon 3 of the GATA4 gene. AIMS:The present study was undertaken to find out whether GATA4 gene is the prime cause of the septal defects in Mysore population. MATERIALS AND METHODS:GATA4 gene analyses were undertaken on 21 confirmed CHD cases by PCR and DNA sequencing. RESULTS AND CONCLUSION:Analysis of this particular mutation in 21 septal defect patients revealed that none of the patients had the mutation, indicating that this mutation is population specific or septal defect in Mysore population is caused due to mutations in other regions of the GATA4 gene.

SUBMITTER: Ramegowda S

PROVIDER: S-EPMC3168151 | biostudies-literature | 2007 Jan

REPOSITORIES: biostudies-literature

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Missense mutation G296S in GATA4 is not responsible for cardiac septal defects.

Ramegowda Smitha S Kumar Arun A Savitha Mysore R MR Krishnamurthy Balasundaram B Doddaiah Narayanappa N Ramachandra Nallur B NB

Indian journal of human genetics 20070101 1

<h4>Background</h4>The most common type of congenital heart disease is the cardiac septal defects, which has reported to be caused by a missense mutation (G296S) in exon 3 of the GATA4 gene.<h4>Aims</h4>The present study was undertaken to find out whether GATA4 gene is the prime cause of the septal defects in Mysore population.<h4>Materials and methods</h4>GATA4 gene analyses were undertaken on 21 confirmed CHD cases by PCR and DNA sequencing.<h4>Results and conclusion</h4>Analysis of this parti ...[more]

PMID: 21957339

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Project description:Deletions of chromosome 1p36 are associated with a high incidence of congenital heart defects (CHDs). The arginine-glutamic acid dipeptide repeats gene (RERE) is located in a critical region for CHD on chromosome 1p36 and encodes a cardiac-expressed nuclear receptor co-regulator. Mutations affecting RERE cause atrial and ventricular septal defects (VSDs) in humans, and RERE-deficient mice also develop VSDs. During cardiac development, mesenchymal cells destined to form part of the atrioventricular (AV) septum are generated when endocardial cells in the AV canal undergo epithelial-to-mesenchymal transition (EMT) and migrate into the space between the endocardium and the myocardium. These newly generated mesenchymal cells then proliferate to fill the developing AV endocardial cushions. Here, we demonstrate that RERE-deficient mouse embryos have reduced numbers of mesenchymal cells in their AV endocardial cushions owing to decreased levels of EMT and mesenchymal cell proliferation. In the endocardium, RERE colocalizes with GATA4, a transcription factor required for normal levels of EMT and mesenchymal cell proliferation. Using a combination of in vivo and in vitro studies, we show that Rere and Gata4 interact genetically in the development of CHDs, RERE positively regulates transcription from the Gata4 promoter and GATA4 levels are reduced in the AV canals of RERE-deficient embryos. Tissue-specific ablation of Rere in the endocardium leads to hypocellularity of the AV endocardial cushions, defective EMT and VSDs, but does not result in decreased GATA4 expression. We conclude that RERE functions in the AV canal to positively regulate the expression of GATA4, and that deficiency of RERE leads to the development of VSDs through its effects on EMT and mesenchymal cell proliferation. However, the cell-autonomous role of RERE in promoting EMT in the endocardium must be mediated by its effects on the expression of proteins other than GATA4.This article has an associated First Person interview with the first author of the paper.

Dataset Information

Missense mutation G296S in GATA4 is not responsible for cardiac septal defects.

Publications

Missense mutation G296S in GATA4 is not responsible for cardiac septal defects.

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