DOI: 10.1038/nature01827. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5

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

10.1038/nature01827

Crossref journal-article

Springer Science and Business Media LLC

Nature (297)

Bibliography

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. (2003). GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature, 424(6947), 443â447.

Authors 13

Vidu Garg (first)
Irfan S. Kathiriya (additional)
Robert Barnes (additional)
Marie K. Schluterman (additional)
Isabelle N. King (additional)
Cheryl A. Butler (additional)
Caryn R. Rothrock (additional)
Reenu S. Eapen (additional)
Kayoko Hirayama-Yamada (additional)
Kunitaka Joo (additional)
Rumiko Matsuoka (additional)
Jonathan C. Cohen (additional)
Deepak Srivastava (additional)

References 30 Referenced 1,003

Hoffman, J. I. E. Incidence of congenital heart disease: I. Postnatal incidence. Pediatr. Cardiol. 16, 103–113 (1995) (10.1007/BF00801907) / Pediatr. Cardiol. by JIE Hoffman (1995)
Schott, J. J. et al. Congenital heart disease caused by mutations in the transcription factor NKX2–5. Science 281, 108–111 (1998) (10.1126/science.281.5373.108) / Science by JJ Schott (1998)
Srivastava, D. & Olson, E. N. A genetic blueprint for cardiac development. Nature 407, 221–226 (2000) (10.1038/35025190) / Nature by D Srivastava (2000)
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) (10.1101/gad.11.8.1061) / Genes Dev. by JD Molkentin (1997)
Kuo, C. T. et al. GATA4 transcription factor is required for ventral morphogenesis and heart tube formation. Genes Dev. 11, 1048–1060 (1997) (10.1101/gad.11.8.1048) / Genes Dev. by CT Kuo (1997)
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) (10.1242/dev.126.24.5679) / Development by K Gajewski (1999)
Reiter, J. F. et al. Gata5 is required for the development of the heart and endoderm in zebrafish. Genes Dev. 13, 2983–2995 (1999) (10.1101/gad.13.22.2983) / Genes Dev. by JF Reiter (1999)
Basson, C. T. et al. Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome. Nature Genet. 15, 30–35 (1997) (10.1038/ng0197-30) / Nature Genet. by CT Basson (1997)
Li, Q. Y. et al. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nature Genet. 15, 21–29 (1997) (10.1038/ng0197-21) / Nature Genet. by QY Li (1997)
Frischmeyer, P. A. et al. An mRNA surveillance mechanism that eliminates transcripts lacking termination codons. Science 295, 2258–2261 (2002) (10.1126/science.1067338) / Science by PA Frischmeyer (2002)
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) (10.1002/(SICI)1096-8628(19990319)83:3<201::AID-AJMG11>3.0.CO;2-V) / Am. J. Med. Genet. by T Pehlivan (1999)
Evans, T. & Felsenfeld, G. The erythroid-specific transcription factor Eryf1: a new finger protein. Cell 58, 877–885 (1989) (10.1016/0092-8674(89)90940-9) / Cell by T Evans (1989)
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) (10.1038/339446a0) / Nature by SF Tsai (1989)
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) (10.1128/MCB.13.4.2235) / Mol. Cell. Biol. by RJ Arceci (1993)
Nichols, K. E. et al. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nature Genet. 24, 266–270 (2000) (10.1038/73480) / Nature Genet. by KE Nichols (2000)
Van Esch, H. et al. GATA3 haplo-insufficiency causes human HDR syndrome. Nature 406, 419–422 (2000) (10.1038/35019088) / Nature by H Van Esch (2000)
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) (10.1074/jbc.R000029200) / J. Biol. Chem. by JD Molkentin (2000)
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) (10.1128/MCB.14.7.4947) / Mol. Cell. Biol. by JD Molkentin (1994)
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) (10.1161/01.RES.77.6.1060) / Circ. Res. by AB Sprenkle (1995)
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) (10.1074/jbc.272.13.8515) / J. Biol. Chem. by EE Morrisey (1997)
McFadden, D. G. et al. A GATA-dependent right ventricular enhancer controls dHAND transcription in the developing heart. Development 127, 5331–5341 (2000) (10.1242/dev.127.24.5331) / Development by DG McFadden (2000)
Durocher, D., Charron, F., 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) (10.1093/emboj/16.18.5687) / EMBO J. by D Durocher (1997)
Hiroi, Y. et al. Tbx5 associates with Nkx2–5 and synergistically promotes cardiomyocyte differentiation. Nature Genet. 28, 276–280 (2001) (10.1038/90123) / Nature Genet. by Y Hiroi (2001)
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) (10.1016/S0092-8674(01)00493-7) / Cell by BG Bruneau (2001)
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) (10.1073/pnas.96.6.2919) / Proc. Natl Acad. Sci. USA by CT Basson (1999)
Cross, S. J. et al. The mutation spectrum in Holt-Oram syndrome. J. Med. Genet. 37, 785–787 (2000) (10.1136/jmg.37.10.785) / J. Med. Genet. by SJ Cross (2000)
Yang, J. et al. Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome. Am. J. Med. Genet. 92, 237–240 (2000) (10.1002/(SICI)1096-8628(20000605)92:4<237::AID-AJMG2>3.0.CO;2-G) / Am. J. Med. Genet. by J Yang (2000)
Garcia, C. K. et al. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science 292, 1394–1398 (2001) (10.1126/science.1060458) / Science by CK Garcia (2001)
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) / Am. J. Hum. Genet. by L Kruglyak (1996)
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) (10.1101/gad.1048903) / Genes Dev. by H Yamagishi (2003)

Dates

Type	When
Created	22 years, 1 month ago (July 7, 2003, 5:11 a.m.)
Deposited	2 years, 3 months ago (May 18, 2023, 2:16 p.m.)
Indexed	8 hours, 56 minutes ago (Sept. 3, 2025, 5:57 a.m.)
Issued	22 years, 2 months ago (July 1, 2003)
Published	22 years, 2 months ago (July 1, 2003)
Published Online	22 years, 1 month ago (July 6, 2003)
Published Print	22 years, 2 months ago (July 1, 2003)

Funders 0

None

BibTeX

@article{Garg_2003, title={GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5}, volume={424}, ISSN={1476-4687}, url={http://dx.doi.org/10.1038/nature01827}, DOI={10.1038/nature01827}, number={6947}, journal={Nature}, publisher={Springer Science and Business Media LLC}, author={Garg, Vidu and Kathiriya, Irfan S. and Barnes, Robert and Schluterman, Marie K. and King, Isabelle N. and Butler, Cheryl A. and Rothrock, Caryn R. and Eapen, Reenu S. and Hirayama-Yamada, Kayoko and Joo, Kunitaka and Matsuoka, Rumiko and Cohen, Jonathan C. and Srivastava, Deepak}, year={2003}, month=jul, pages={443–447} }

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