GATA4
The GATA-binding proteins (GATAs) are a group of structurally related transcription factors that control gene expression and differentiation in a variety of cell types.
Members of the GATAs family of DNA-binding proteins recognize a consensus sequence known as the ’GATA’ motif, which is an important cis-element in the promoters of many genes. All GATA-binding proteins contain 1 or 2 zinc finger motifs of the distinctive form CXNCX(17)CNXC.
Pathology
germline mutations in atrial septal defect (ASD2) (MIM.607941)
cardiac malformations
See also
References
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Tomita-Mitchell A, Maslen CL, Morris CD, Garg V, Goldmuntz E. GATA4 sequence variants in patients with congenital heart disease. J Med Genet. 2007 Dec;44(12):779-83. PMID: 18055909
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Rajagopal SK, Ma Q, Obler D, Shen J, Manichaikul A, Tomita-Mitchell A, Boardman K, Briggs C, Garg V, Srivastava D, Goldmuntz E, Broman KW, Benson DW, Smoot LB, Pu WT. Spectrum of heart disease associated with murine and human GATA4 mutation. J Mol Cell Cardiol. 2007 Dec;43(6):677-85. PMID: 17643447
Nemer G, Fadlalah F, Usta J, Nemer M, Dbaibo G, Obeid M, Bitar F. A novel mutation in the GATA4 gene in patients with tetralogy of Fallot. Hum Mutat 2006; 27: 293–4.
Hirayama-Yamada K, Kamisago M, Akimoto K, Aotsuka H, Nakamura Y, Tomita H, Furutani M, Imamura S, Takao A, Nakazawa M, Matsuoka R. Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. Am J Med Genet A 2005; 135: 47–52.
Packham EA, David Brook J. Interaction makes the heart grow stronger. Trends Mol Med. 2003 Oct;9(10):407-9. PMID: 14557051
Garg, V.; Kathiriya, I. S.; Barnes, R.; Schluterman, M. K.; King, I. N.; Butler, C. A.; Rothrock, C. R.; Eapen, R. S.; Hirayama-Yamada, K.; Joo, K.; Matsuoka, R.; Cohen, J. C.; Srivastava, D. : GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 424: 443-447, 2003. PMID : 12845333