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Gata4

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Title: Gata4  
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Subject: GATA transcription factor, HAND2, Homeobox protein Nkx-2.5, TBX5 (gene), Serum response factor
Collection: Transcription Factors
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Gata4

GATA binding protein 4
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols  ; ASD2; TACHD; VSD1
External IDs ChEMBL: GeneCards:
RNA expression pattern
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Transcription factor GATA-4 is a protein that in humans is encoded by the GATA4 gene.[1]

Contents

  • Function 1
  • Interactions 2
  • Clinical relevance 3
  • See also 4
  • References 5
  • Further reading 6
  • External links 7

Function

This gene encodes a member of the GATA family of zinc finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function. Mutations in this gene have been associated with cardiac septal defects as well as reproductive defects.[2][3]

GATA4 is a critical transcription factor for proper mammalian cardiac development and essential for survival of the embryo. GATA4 works in combination with other essential cardiac transcription factors as well, such as Nkx2-5 and Tbx5. GATA4 is expressed in both embryo and adult cardiomyocytes where it functions as a transcriptional regulator for many cardiac genes, and also regulates hypertrophic growth of the heart.[4] GATA4 promotes cardiac morphogenesis, cardiomyocytes survival, and maintains cardiac function in the adult heart.[4] Mutations or defects in the GATA4 gene can lead to a variety of cardiac problems including congenital heart disease, abnormal ventral folding, and defects in the cardiac septum separating the atria and ventricles, and hypoplasia of the ventricular myocardium.[5] As seen from the abnormalities from deletion of GATA4, it is essential for cardiac formation and the survival of the embryo during fetal development.[6] GATA4 is not only important for cardiac development, but also development and function of the mammalian fetal ovary and contributes to fetal male gonadal development and mutations may lead to defects in reproductive development. GATA4 has also been discovered to have an integral role in controlling the early stages of pancreatic and hepatic development.[7]

Interactions

GATA4 has been shown to interact with NKX2-5,[8][9][10] TBX5,[11] Serum response factor[12][13] HAND2,[14] and HDAC2.[15]

Clinical relevance

Mutations in this gene have been associated to cases of congenital diaphragmatic hernia.[16]

See also

References

  1. ^ White RA, Dowler LL, Pasztor LM, Gatson LL, Adkison LR, Angeloni SV, Wilson DB (October 1995). "Assignment of the transcription factor GATA4 gene to human chromosome 8 and mouse chromosome 14: Gata4 is a candidate gene for Ds (disorganization)". Genomics 27 (1): 20–6.  
  2. ^ "Entrez Gene: GATA4 GATA binding protein 4". 
  3. ^ Köhler B, Lin L, Ferraz-de-Souza B, Wieacker P, Heidemann P, Schröder V, Biebermann H, Schnabel D, Grüters A, Achermann JC (January 2008). "Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency". Hum. Mutat. 29 (1): 59–64.  
  4. ^ a b [Perrino, Cinzia and Rockman, Howard A. GATA4 and the two sides of gene expression reprogramming. 2006. Circulation Research, 98: 837-845.]
  5. ^ [Black, Bryan L. and McCulley, David J. Transcription factor pathways and congenital heart disease. 2012. Current Topics in Developmental Biology, 100: 253-277]
  6. ^ [Zhou, Pingzhu, et al. Regulation of GATA4 transcriptional activity in cardiovascular development and disease. 2012. Current Topics in Developmental Biology, 100: 143-169]
  7. ^ [Perrino, Cinzia and Rockman, Howard A. GATA4 and the two sides of gene expression reprogramming. 2006. Circulation Research, 98: 837-845]
  8. ^ Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, Butler CA, Rothrock CR, Eapen RS, Hirayama-Yamada K, Joo K, Matsuoka R, Cohen JC, Srivastava D (July 2003). "GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5". Nature 424 (6947): 443–7.  
  9. ^ Durocher D, Charron F, Warren R, Schwartz RJ, Nemer M (September 1997). "The cardiac transcription factors Nkx2-5 and GATA-4 are mutual cofactors". EMBO J. 16 (18): 5687–96.  
  10. ^ Zhu W, Shiojima I, Hiroi Y, Zou Y, Akazawa H, Mizukami M, Toko H, Yazaki Y, Nagai R, Komuro I (November 2000). "Functional analyses of three Csx/Nkx-2.5 mutations that cause human congenital heart disease". J. Biol. Chem. 275 (45): 35291–6.  
  11. ^ Svensson EC, Tufts RL, Polk CE, Leiden JM (February 1999). "Molecular cloning of FOG-2: a modulator of transcription factor GATA-4 in cardiomyocytes". Proc. Natl. Acad. Sci. U.S.A. 96 (3): 956–61.  
  12. ^ Belaguli NS, Sepulveda JL, Nigam V, Charron F, Nemer M, Schwartz RJ (October 2000). "Cardiac tissue enriched factors serum response factor and GATA-4 are mutual coregulators". Mol. Cell. Biol. 20 (20): 7550–8.  
  13. ^ Morin S, Paradis P, Aries A, Nemer M (February 2001). "Serum response factor-GATA ternary complex required for nuclear signaling by a G-protein-coupled receptor". Mol. Cell. Biol. 21 (4): 1036–44.  
  14. ^ Dai YS, Cserjesi P, Markham BE, Molkentin JD (July 2002). "The transcription factors GATA4 and dHAND physically interact to synergistically activate cardiac gene expression through a p300-dependent mechanism". J. Biol. Chem. 277 (27): 24390–8.  
  15. ^ Trivedi CM, Zhu W, Wang Q, Jia C, Kee HJ, Li L, Hannenhalli S, Epstein JA (September 2010). "Hopx and Hdac2 interact to modulate Gata4 acetylation and embryonic cardiac myocyte proliferation". Dev. Cell 19 (3): 450–9.  
  16. ^ Yu L, Wynn J, Cheung YH, Shen Y, Mychaliska GB, Crombleholme TM, Azarow KS, Lim FY, Chung DH, Potoka D, Warner BW, Bucher B, Stolar C, Aspelund G, Arkovitz MS, Chung WK (November 2012). "Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia". Hum. Genet. 132 (3): 285–92.  

Further reading

  • Evans T, Reitman M, Felsenfeld G (1988). "An erythrocyte-specific DNA-binding factor recognizes a regulatory sequence common to all chicken globin genes". Proc. Natl. Acad. Sci. U.S.A. 85 (16): 5976–80.  
  • Huang WY, Cukerman E, Liew CC (1995). "Identification of a GATA motif in the cardiac alpha-myosin heavy-chain-encoding gene and isolation of a human GATA-4 cDNA". Gene 155 (2): 219–23.  
  • Yamagata T, Nishida J, Sakai R et al. (1995). "Of the GATA-binding proteins, only GATA-4 selectively regulates the human interleukin-5 gene promoter in interleukin-5-producing cells which express multiple GATA-binding proteins". Mol. Cell. Biol. 15 (7): 3830–9.  
  • Molkentin JD, Kalvakolanu DV, Markham BE (1994). "Transcription factor GATA-4 regulates cardiac muscle-specific expression of the alpha-myosin heavy-chain gene". Mol. Cell. Biol. 14 (7): 4947–57.  
  • Arceci RJ, King AA, Simon MC et al. (1993). "Mouse GATA-4: a retinoic acid-inducible GATA-binding transcription factor expressed in endodermally derived tissues and heart". Mol. Cell. Biol. 13 (4): 2235–46.  
  • Huang WY, Heng HH, Liew CC (1997). "Assignment of the human GATA4 gene to 8p23.1→p22 using fluorescence in situ hybridization analysis". Cytogenet. Cell Genet. 72 (2–3): 217–8.  
  • Herzig TC, Jobe SM, Aoki H et al. (1997). "Angiotensin II type1a receptor gene expression in the heart: AP-1 and GATA-4 participate in the response to pressure overload". Proc. Natl. Acad. Sci. U.S.A. 94 (14): 7543–8.  
  • Durocher D, Charron F, Warren R et al. (1997). "The cardiac transcription factors Nkx2-5 and GATA-4 are mutual cofactors". EMBO J. 16 (18): 5687–96.  
  • Molkentin JD, Lu JR, Antos CL et al. (1998). "A calcineurin-dependent transcriptional pathway for cardiac hypertrophy". Cell 93 (2): 215–28.  
  • Svensson EC, Tufts RL, Polk CE, Leiden JM (1999). "Molecular cloning of FOG-2: a modulator of transcription factor GATA-4 in cardiomyocytes". Proc. Natl. Acad. Sci. U.S.A. 96 (3): 956–61.  
  • Tremblay JJ, Viger RS (1999). "Transcription factor GATA-4 enhances Müllerian inhibiting substance gene transcription through a direct interaction with the nuclear receptor SF-1". Mol. Endocrinol. 13 (8): 1388–401.  
  • Lin L, Aggarwal S, Glover TW et al. (2000). "A minimal critical region of the 8p22-23 amplicon in esophageal adenocarcinomas defined using sequence tagged site-amplification mapping and quantitative polymerase chain reaction includes the GATA-4 gene". Cancer Res. 60 (5): 1341–7.  
  • Morin S, Charron F, Robitaille L, Nemer M (2000). "GATA-dependent recruitment of MEF2 proteins to target promoters". EMBO J. 19 (9): 2046–55.  
  • Zhu W, Shiojima I, Hiroi Y et al. (2001). "Functional analyses of three Csx/Nkx-2.5 mutations that cause human congenital heart disease". J. Biol. Chem. 275 (45): 35291–6.  
  • Belaguli NS, Sepulveda JL, Nigam V et al. (2000). "Cardiac tissue enriched factors serum response factor and GATA-4 are mutual coregulators". Mol. Cell. Biol. 20 (20): 7550–8.  
  • Morin S, Paradis P, Aries A, Nemer M (2001). "Serum response factor-GATA ternary complex required for nuclear signaling by a G-protein-coupled receptor". Mol. Cell. Biol. 21 (4): 1036–44.  
  • Crispino JD, Lodish MB, Thurberg BL et al. (2001). "Proper coronary vascular development and heart morphogenesis depend on interaction of GATA-4 with FOG cofactors". Genes Dev. 15 (7): 839–44.  
  • Dai YS, Markham BE (2001). "p300 Functions as a coactivator of transcription factor GATA-4". J. Biol. Chem. 276 (40): 37178–85.  
  • Liang Q, Wiese RJ, Bueno OF et al. (2001). "The transcription factor GATA4 is activated by extracellular signal-regulated kinase 1- and 2-mediated phosphorylation of serine 105 in cardiomyocytes". Mol. Cell. Biol. 21 (21): 7460–9.  

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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