GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5 View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2003-07

AUTHORS

Vidu Garg, Irfan S. Kathiriya, Robert Barnes, Marie K. Schluterman, Isabelle N. King, Cheryl A. Butler, Caryn R. Rothrock, Reenu S. Eapen, Kayoko Hirayama-Yamada, Kunitaka Joo, Rumiko Matsuoka, Jonathan C. Cohen, Deepak Srivastava

ABSTRACT

Congenital heart defects (CHDs) are the most common developmental anomaly and are the leading non-infectious cause of mortality in newborns. Only one causative gene, NKX2-5, has been identified through genetic linkage analysis of pedigrees with non-syndromic CHDs. Here, we show that isolated cardiac septal defects in a large pedigree were linked to chromosome 8p22-23. A heterozygous G296S missense mutation of GATA4, a transcription factor essential for heart formation, was found in all available affected family members but not in any control individuals. This mutation resulted in diminished DNA-binding affinity and transcriptional activity of Gata4. Furthermore, the Gata4 mutation abrogated a physical interaction between Gata4 and TBX5, a T-box protein responsible for a subset of syndromic cardiac septal defects. Conversely, interaction of Gata4 and TBX5 was disrupted by specific human TBX5 missense mutations that cause similar cardiac septal defects. In a second family, we identified a frame-shift mutation of GATA4 (E359del) that was transcriptionally inactive and segregated with cardiac septal defects. These results implicate GATA4 as a genetic cause of human cardiac septal defects, perhaps through its interaction with TBX5. More... »

PAGES

443

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/nature01827

DOI

http://dx.doi.org/10.1038/nature01827

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1053582075

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/12845333


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