Journal of Pediatric Cardiology and Cardiac Surgery

Online ISSN: 2433-1783 Print ISSN: 2433-2720
Japanese Society of Pediatric Cardiology and Cardiac Surgery
Japanese Society of Pediatric Cardiology and Cardiac Surgery Academy Center, 358-5 Yamabuki-cho, Shinju-ku, Tokyo 162-0801, Japan
Journal of Pediatric Cardiology and Cardiac Surgery 1(1): 18-27 (2017)


Current Insights into Genetics of Congenital Heart Diseases: GATA and T-box Cardiac Transcription Factors as the Hotspot Pathogenesis

Division of Pediatric Cardiology, Department of Pediatrics, Keio University School of Medicine ◇ Tokyo, Japan

発行日:2017年7月1日Published: July 1, 2017

The molecular mechanisms underlying spatiotemporal regulation of transcription during the cardiac development remain to be fully understood. The association of huge number of modifier genes, contribution of multiple cell types and progenitors, and complex form of 3D-structural morphology needs to be clarified. The intense investigations of cardiogenesis using in vivo models have revealed a cluster of transcription factors which have essential roles for cardiac development including GATA family of zinc finger proteins, GATA4, 5, and 6; T-box factors, including Tbx1, Tbx2, Tbx3, Tbx5, Tbx18, and Tbx20; the homeodomain protein Nkx2.5; MEF2 factors; the Hand family of bHLH transcription factors, dHand and eHand; and the Lim-homeodomain protein Isl1. These essential cardiac transcription factors interact each other and form the complex core transcriptional circuit to regulate the framework of cardiac development to establish the basic morphology of the heart. In this review, we focus on GATA and T-box transcription factors as the hotspot pathogenesis of congenital heart diseases with developmental background obtained from transgenic animal studies.

Key words: mutation; second heart field; cardiac neural crest; stem cells; outflow tract defect

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