GATA transcription factors in congenital heart defects: A Commentary on a novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect

Journal of Human Genetics

Volumn 55, Issue 10, 2010, Pages 637-638

  Kodo, Kazuki ^a   Yamagishi, Hiroyuki ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

PLEXIN; SEMAPHORIN; TRANSCRIPTION FACTOR GATA 4; TRANSCRIPTION FACTOR GATA 6;

ARTERIAL TRUNK; FALLOT TETRALOGY; GENE CONTROL; GENE DISRUPTION; GENE INTERACTION; GENE SEQUENCE; GENETIC ASSOCIATION; HEART ATRIUM SEPTUM DEFECT; HUMAN; MISSENSE MUTATION; NONHUMAN; NOTE; PROTEIN MOTIF; ZINC FINGER MOTIF;

ANIMALS; CASE-CONTROL STUDIES; GATA TRANSCRIPTION FACTORS; GATA6 TRANSCRIPTION FACTOR; GENETIC TESTING; HEART DEFECTS, CONGENITAL; HEART SEPTAL DEFECTS, ATRIAL; HUMANS; MICE; MUTATION; TETRALOGY OF FALLOT;

EID: 78049241109     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.105     Document Type: Note

References (10)

1. Gruber, P. J. & Epstein, J. A. Development gone awry: congenital heart disease. Circ. Res. 94, 273-283 (2004). (Pubitemid 38240718)
2. Lin, X., Huo, Z., Liu, X., Zhang, Y., Li, L., Zhao, H. et al. A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. J. Hum. Genet. 55, 662-667 (2010).
3. Kodo, K., Nishizawa, T., Furutani, M., Arai, S., Yamamura, E., Joo, K. et al. GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. Proc. Natl Acad. Sci. USA 106, 13933-13938 (2009).
4. Maitra, M., Koenig, S. N., Srivastava, D. & Garg, V. Identification of GATA6 sequence variants in patients with congenital heart defects. Pediatr. Res. (e-pub ahead of print 24 June 2010).
5. Maeda, M., Kubo, K., Nishi, T. & Futai, M. Roles of gastric GATA DNA-binding proteins. J. Exp. Biol. 199, 513-520 (1996). (Pubitemid 2627109)
6. Lepore, J. J., Mericko, P. A., Cheng, L., Lu, M. M., Morrisey, E. E. & Parmacek, M. S. GATA-6 regulates semaphorin 3C and is required in cardiac neural crest for cardiovascular morphogenesis. J. Clin. Invest. 116, 929-939 (2006).
7. Yamagishi, H. & Srivastava, D. Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome. Trends Mol. Med. 9, 383-389 (2003). (Pubitemid 37169052)
8. Yamagishi, H., Maeda, J., Hu, T., McAnally, J., Conway, S. J., Kume, T. et al. Tbx1 is regulated by tissuespecific forkhead proteins through a common Sonic hedgehog-responsive enhancer. Genes Dev. 17, 269-281 (2003). (Pubitemid 36105898)
9. Yamagishi, H., Maeda, J., Uchida, K., Tsuchihashi, T., Nakazawa, M., Aramaki, M. et al. Molecular embryology for an understanding of congenital heart diseases. Anat. Sci. Int. 84, 88-94 (2009).
10. Théveniau-Ruissy, M., Dandonneau, M., Mesbah, K., Ghez, O., Mattei, M. G., Miquerol, L. et al. The del22q11.2 candidate gene Tbx1 controls regional outflow tract identity and coronary artery patterning. Circ. Res. 103, 142-148 (2008).