GATA4 mutation and congenital cardiovascular diseases: Importance of phenotype and genetic background clarification

Journal of Molecular and Cellular Cardiology

Volumn 43, Issue 6, 2007, Pages 667-669

  Matsuoka, Rumiko ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR GATA 4;

CONGENITAL HEART DISEASE; EDITORIAL; FALLOT TETRALOGY; GENE MUTATION; GENE SEQUENCE; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; MORPHOGENESIS; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN INTERACTION; PROTEIN PROTEIN INTERACTION;

ANIMALS; CHROMOSOMES, HUMAN, PAIR 8; GATA4 TRANSCRIPTION FACTOR; HEART DEFECTS, CONGENITAL; HUMANS; LINKAGE (GENETICS); MICE; MUTATION; MYOCARDIUM; PHENOTYPE;

EID: 36448965230     PISSN: 00222828     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.yjmcc.2007.08.017     Document Type: Editorial

References (21)

1. Matsuoka R., Mori K., and Ando M. Working paper of the Gene, Cardiovascular Disease Epidemiology Committee of JSPCCS. Epidemiology reports for familial congenital cardiovascular disease. Ped Cardiol Card Surg 19 (2003) 622-628
2. Burch J.B. Regulation of GATA gene expression during vertebrate development. Semin Cell Dev Biol 16 (2005) 71-81
3. Peterkin T., Gibson A., Loose M., and Patient R. The roles of GATA-4, -5 and -6 in vertebrate heart development. Semin Cell Dev Biol 16 (2005) 83-94
4. Shimizu R., and Yamamoto M. Gene expression regulation and domain function of hematopoietic GATA factors. Semin Cell Dev Biol 16 (2005) 129-136
5. Huang W.Y., Cukerman E., and Liew C.C. Identification of a GATA motif in the cardiac alpha-myosin heavy-chain-encoding gene and isolation of a human GATA-4 cDNA. Gene 155 (1995) 219-223
6. Molkentin J., Lin Q., Duncan S.A., and Olson E.N. Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis. Gene Dev 11 (1997) 1061-1072
7. Epstein J.A., and Parmacek M.S. Recent advances in cardiac development with therapeutic implications for adult cardiovascular disease. Circulation 112 (2005) 592-597
8. Garg V., Kathiriya I.S., Bames R., Kathiriya I.S., Barnes R., Schluterman M.K., Butler C.A., et al. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 424 (2003) 443-447
9. Ching Y.H., Ghosh T.K., Cross S.J., Packham E.A., Honeyman L., Loughna S., et al. Mutation in myosin heavy chain 6 causes atrial sepal defect. Nat Genet 37 (2005) 423-428
10. Hirayama-Yamada K., Kamisago M., Akimoto K., Aotsuka H., Tomita H., et al. Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. Am J Med Genet A 135 (2005) 47-52
11. Okubo A., Miyoshi O., Baba K., Takagi M., Tsukamoto K., Kinoshita A., et al. A novel GATA4 mutation completely segregated with atrial septal defect in a Japanese family. J Med Genet 41 (2004) e97
12. Sarkozy A., Conti E., Neri C., D'Agostino R., Digilio M.C., Esposito G., et al. Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors. J Med Genet 42 (2005) e16
13. Sarkozy A., Esposito G., Conti E., Digilio M.C., Marino B., Calabro R., et al. CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defect. Am J Med Genet A 139 3 (2005) 236-238
14. Nemer G., Fadlalah F., Usta J., Nemer M., Dbaibo G., Obeid M., et al. A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot. Human Mutat 27 (2006) 293-294
15. Zhang L., Tumer Z., Jacobsen J.R., Andersen P.S., Tommerup N., and Larsen L.A. Screening of 99 Danish patients with congenital heart disease for GATA4 mutations. Genet Test 10 (2006) 277-280
16. Schluterman M.K., Krysiak A.E., Kathiriya I.S., Abate N., Chandalia M., Srivastava D., et al. Screening and biochemical analysis of GATA4 sequence variations identified in patients with congenital heart disease. Am J Med Genet A 275 (2007) 235-244
17. Kuo C.T., Morrisey E.E., Anandappa R., Sigrist K., Lu M.M., Parmacek M.S., et al. GATA4 transcription factor is required for ventral morphogenesis and heart tube formation. Gene Dev 11 (1997) 1048-1060
18. Xin M., Davis C.A., Molkentin J.D., Lien C.L., Duncan S.A., Richardson J.A., et al. A threshold of GATA4 and GATA6 expression is required for cardiovascular development. Proc Natl Acad Sci U S A 103 (2006) 11189-11194
19. Pu W.T., Ishiwata T., Juraszek A.L., Ma Q., and Izumo S. Gata4 is a dosage-sensitive regulator of cardiac morphogenesis. Dev Biol 275 (2004) 235-244
20. Bisping E., Ikeda S., Kong S.W., Tarnavski O., Bodyak N., McMullen J.R., et al. Gata4 is required for maintenance of postnatal cardiac function and protection from pressure overload-induced heart failure. Proc Natl Acad Sci U S A 103 (2006) 14471-14476
21. Rajagopal S.K., Ma Q., Obler D., Shen J., Manichaikul A., Tomita-Mitchell A., et al. Spectrum of the disease associated with murine and human GATA4 mutation. J Mol Cell Crdiol 43 (2007) 677-685