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

Nature

Volumn 424, Issue 6947, 2003, Pages 443-447

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

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^c TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^d Kyusyu Kosei Nenkin Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOMES; DISEASES; GENES;

HEART DEFECTS;

CARDIOLOGY;

T BOX TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR GATA 4; TRANSCRIPTION FACTOR TBX5; UNCLASSIFIED DRUG;

MEDICINE; MUTATION;

ANIMAL CELL; ARTICLE; CELL STRAIN COS1; CHROMOSOME 8P; GATA4 GENE; GENE; HEART SEPTUM DEFECT; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN DNA BINDING; TRANSCRIPTION REGULATION;

ANIMALS; BINDING SITES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 8; COS CELLS; DNA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; ELECTROPHORETIC MOBILITY SHIFT ASSAY; FEMALE; FRAMESHIFT MUTATION; GATA4 TRANSCRIPTION FACTOR; HEART DEFECTS, CONGENITAL; HELA CELLS; HOMEODOMAIN PROTEINS; HUMANS; MALE; MICE; MUTATION; PEDIGREE; PRECIPITIN TESTS; PROTEIN BINDING; T-BOX DOMAIN PROTEINS; TRANSCRIPTION FACTORS; XENOPUS PROTEINS;

ANIMALIA;

EID: 0043267988     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/nature01827     Document Type: Article

References (30)

1. Hoffman, J. I. E. Incidence of congenital heart disease: I. Postnatal incidence. Pediatr. Cardiol. 16, 103-113 (1995).
2. Schott, J. J. et al. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 281, 108-111 (1998).
3. Srivastava, D. & Olson, E. N. A genetic blueprint for cardiac development. Nature 407, 221-226 (2000).
4. Molkentin, J. D., Lin, Q., Duncan, S. A. & Olson, E. N. Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis. Genes Dev. 11, 1061-1072 (1997).
5. Kuo, C. T. et al. GATA4 transcription factor is required for ventral morphogenesis and heart tube formation. Genes Dev. 11, 1048-1060 (1997).
6. Gajewski, K., Fossett, N., Molkentin, J. D. & Schulz, R. A. The zinc finger proteins Pannier and GATA4 function as cardiogenic factors in Drosophila. Development 126, 5679-5688 (1999).
7. Reiter, J. F. et al. Gata5 is required for the development of the heart and endoderm in zebrafish. Genes Dev. 13, 2983-2995 (1999).
8. Basson, C. T. et al. Mutations inhuman TBX5 cause limb and cardiac malformation in Holt-Oram syndrome. Nature Genet. 15, 30-35 (1997).
9. Li, Q. Y. et al. Holt-Oram syndrome is caused by mutations in TBX5, a member ofthe Brachyury (T) gene family. Nature Genet. 15, 21-29 (1997).
10. Frischmeyer, P. A. et al. An mRNA surveillance mechanism that eliminates transcripts lacking termination codons. Science 295, 2258-2261 (2002).
11. Pehlivan, T. et al. GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease. Am. J. Med. Genet. 83, 201-206 (1999).
12. Evans, T. & Felsenfeld, G. The erythroid-specific transcription factor Eryf1: a new finger protein. Cell 58, 877-885 (1989).
13. Tsai, S. F. et al. Cloning of cDNA for the major DNA-binding protein of the erythroid lineage through expression in mammalian cells. Nature 339, 446-451 (1989).
14. Arceci, R. J., King, A. A., Simon, M. C., Orkin, S. H. & Wilson, D. B. Mouse GATA-4: a retinoic acid-inducible GATA-binding transcription factor expressed in endodermally derived tissues and heart. Mol. Cell. Biol. 13, 2235-2246 (1993).
15. Nichols, K. E. et al. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nature Genet. 24, 266-270 (2000).
16. Van Esch, H. et al. GATA3 haplo-insufficiency causes human HDR syndrome. Nature 406, 419-422 (2000).
17. Molkentin, J. D. The zinc finger-containing transcription factors GATA-4, -5, and -6. Ubiquitously expressed regulators of tissue-specific gene expression. J. Biol. Chem. 275, 38949-38952 (2000).
18. Molkentin, J. D., Kalvakolanu, D. V. & Markham, B. E. Transcription factor GATA-4 regulates cardiac muscle-specific expression of the alpha-myosin heavy chain gene. Mol. Cell. Biol. 14, 4947-4957 (1994).
19. Sprenkle, A. B., Murray, S. F. & Glembotski, C. C. Involvement of multiple cis elements in basal- and alpha-adrenergic agonist-inducible atrial natriuretic factor transcription. Roles for serum response elements and an SP-1-like element. Circ. Res. 77, 1060-1069 (1995).
20. Morrisey, E. E., Ip, H. S., Tang, Z. & Parmacek, M. S. GATA-4 activates transcription via two novel domains that are conserved within the GATA.4/5/6 subfamily. J. Biol. Chem. 272, 8515-8524 (1997).
21. McFadden, D. G. et al. A GATA-dependent right ventricular enhancer controls dHAND transcription in the developing heart. Development 127, 5331-5341 (2000).
22. Durocher, D., Charron, E., Warren, R., Schwartz, R. J. & Nemer, M. The cardiac transcription factors Nkx2-5 and GATA-4 are mutual cofactors. EMBO J. 16, 5687-5696 (1997).
23. Hiroi, Y. et al. Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation. Nature Genet. 28, 276-280 (2001).
24. Bruneau, B. G. et al. A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease. Cell 106, 709-721 (2001).
25. Basson, C. T. et al. Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. Proc. Natl Acad. Sci. USA 96, 2919-2924 (1999).
26. Cross, S. J. et al. The mutation spectrum in Holt-Oram syndrome. J. Med. Genet. 37, 785-787 (2000).
27. Yang, J. et al. Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome. Am. J. Med. Genet. 92, 237-240 (2000).
28. Garcia, C. K. et al. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science 292, 1394-1398 (2001).
29. Kruglyak, L., Daly, M. J., Reeve-Daly, M. P. & Lander, E. S. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am. J. Hum. Genet. 58, 1347-1363 (1996).
30. Yamagishi, H. et al. Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer. Genes Dev. 17, 269-281 (2003).