Structure and Expression of the Human GATA3 Gene

Labastie, Marie-Claude; Bories, Dominique; Chabret, Claude; Grégoire, Jean‐Marc; Chrétien, Stany; Romeo, PH

doi:10.1006/geno.1994.1217

Cited by 63 publications

(46 citation statements)

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“…1B), although the non-coding first exon is hypothetical in the human GATA-4 gene. The gene organization of GATA-4 is similar to those of GATA-5 (NC_000020) and GATA-6 (NC 000018) with seven exons, but slightly different from those of GATA-1 (NC_000023), GATA-2 (NC_ 000003), and GATA-3 56) with six exons. The primary structure of mouse GATA-4 deduced from the genomic sequence is essentially the same as that of rat GATA-4 (ϭGATA-GT2 52) ) (L22761) (Fig.…”

Section: Gene Organization Of Mouse Gata-4mentioning

confidence: 82%

GATA-4 Gene Organization and Analysis of Its Promoter

Ohara

Atarashi

Ishibashi

et al. 2006

Biological & Pharmaceutical Bulletin

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The GATA DNA-binding protein family in mammals has two tandem zinc fingers separated by 29 amino acid residues [(CX 2 C)X 17 (CX 2 C)]-X 29 -[(CX 2 C)X 17 (CX 2 C)] in the middle of the molecule. These fingers are essential for both DNA binding and interaction with other regulatory factors.1,2) The mammalian GATA family has six members. They are divided in two subgroups; one group consists of GATA-1, -2 and -3, which play crucial roles in the development and gene regulation of hematopoietic lineage cells. The other subfamily members, GATA-4, -5 and -6, are similarly important in tissues derived from the endoderm and mesoderm such as the gut, heart and gonad. 1)GATA-4 plays an essential role in embryogenesis, since GATA-4 null mice die at 8.5-10.5 d post-coitum, 3,4) possibly due to the defective ventral body pattern lacking a ventral pericardiac cavity, heart tube and foregut. Since knockout mice exhibited specification of the cardiac cell lineage, 3,4) and ES cells with homozygous GATA-4(Ϫ/Ϫ) contributed to the heart tissue in chimeric embryos, 3) GATA-4 in procardiomyocytes or visceral endoderm cells likely regulate the expression of a morphogenic signaling molecule(s) that directs the migration of procardiomyocytes. Although GATA-4 knockout mice express cardiac contractile proteins, 3,4) a number of studies have suggested that both structural and regulatory genes in the cardiac muscle cells are targets of GATA-4, such as those of A1 adenosine receptor, 5) angiotensin II type Ia receptor, 6) atrial natriuretic peptide, 7) brain natriuretic peptide, 7-9) cardiac a actin, 10) cardiac troponin C, 11) cardiac troponin I, 9) cardiac-restricted ankyrin repeat protein, 12) amyosin heavy-chain, 9,13) b-myosin heavy-chain, 9) myosin light chain 1/3, 14) Na ϩ /Ca 2ϩ exchanger 1, 15,16) Nkx-2.5, 17,18) slow myosin heavy chain, 19) and corin. 20) It is also evident that GATA-4 functions in the regulation of both epithelial cell differentiation and gene expression in the gut 21,22) and gonads [23][24][25][26][27] in addition to the heart.28)The gene regulation by GATA-4 is cooperative, as the interaction of GATA-4 with other regulatory factors such as AP-1, NF-AT3, 34) GATA-6, 9) dHAND, 35) and CBP 36) has been demonstrated. Actually, mutation of GATA-4 prevented the interaction with FOG2 and TBX5, and affected cardiac development. 32,37) Furthermore, it has been reported that the alteration in GATA-4 expression is closely related to pathological conditions such as tumorigenesis [38][39][40] and heart diseases.41) GATA-4 gene activation is also closely associated with hypertrophic responses.6,42,43) However, little is known about the regulation of GATA-4 transcription itself. In this study, we isolated the 5Ј upstream region of the mouse GATA-4 gene, and characterized its sequence in terms of sequence motifs and promoter activity. Furthermore, we showed that a P19.CL6 embryonic carcinoma cell line 44) that differentiates into cardiomyocytes could be a model for regulation of the GATA-4 gene. MATERIALS AND METHODSSequence...

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Section: Gene Organization Of Mouse Gata-4mentioning

confidence: 82%

GATA-4 Gene Organization and Analysis of Its Promoter

Ohara

Atarashi

Ishibashi

et al. 2006

Biological & Pharmaceutical Bulletin

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“…however, human GATA3 was identified in the human pancreas cdna sample, and mouse Gata3 was weekly but unequivocally expressed in pancreatic β cells. in addition, GATA3 is known to play an important role in lymphocyte development and function [11,12]. Thus, GATA3 haploinsufficiency may affect the function of β cells and/or lymphocytes, leading to the development of dM in relatively exceptional patients with high sus- The black and white boxes denote the coding and the untranslated regions, respectively.…”

Section: Discussionmentioning

confidence: 99%

Diabetes Mellitus in a Japanese Girl with HDR Syndrome and GATA3 Mutation

et al. 2010

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Abstract. We report on a japanese girl with hdr (hypoparathyroidism, sensorineural deafness, and renal dysplasia) syndrome who developed diabetes mellitus (dM) at three years of age (blood glucose 713 mg/dL, hba 1c 8.0%) in the absence of anti-glutamic acid decarboxylase autoantibodies. Mutation analysis revealed a de novo heterozygous two base pair deletion at exon 6 of the GATA3 gene (c.1200_1201delca; p.h400fsX506). GATA3 expression was identified by PCR amplification for human pancreas cDNA, and mouse Gata3 was weekly but unequivocally expressed in pancreatic β cells. The results, in conjunction with the previous findings indicating the critical role of GATA3 in lymphocyte function, suggest that GATA3 haploinsufficiency may affect the function of β cells and/or lymphocytes, leading to the development of dM in relatively exceptional patients with high susceptibility to dM.

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“…An ϳ2.5-kb genomic fragment encompassing several of the DNase I hypersensitivity sites is sufficient to support the expression of a reporter gene in a T cellspecific manner in vitro (8,9). A recent report showed that the T cell specificity of the human GATA-3 gene might be regulated by an upstream silencer and a positive cis-acting element, which is located in the 3Ј end of the first intron, however, neither of the regulatory elements was cell type-specific (10,11). Even more elusive are the identities of the transcription factors that dictate the expression of the GATA-3 gene.…”

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confidence: 99%

Transcriptional Regulation of GATA-3 by an Intronic Regulatory Region and Fetal Liver Zinc Finger Protein 1

Hwang

Choi

2002

The Journal of Immunology

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GATA-3 is a T cell-specific transcription factor and is essential for the development of the T cell lineage. The transcriptional regulation of GATA-3, however, remains elusive. In this study, we report the identification of a regulatory region located within the first intron of the murine GATA-3 gene. The intronic regulatory region contains both a positive and a negative cis-acting element but, as a whole, serves as a potent T cell-specific enhancer and is essential for the promoter activity in vitro. By using yeast one-hybrid screening, we discovered that fetal liver zinc finger protein 1 (Fliz1) could bind specifically to the negative cis-acting element, the sequence of which is conserved between the mouse and human GATA-3 genes. More importantly, overexpression of Fliz1 repressed the expression of GATA-3 in vivo and in vitro. Our data suggest that the expression of GATA-3 might be partly regulated by the intronic regulatory region and Fliz1 in a developmental stage-specific fashion.

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Structure and Expression of the Human GATA3 Gene

Cited by 63 publications

References 0 publications

GATA-4 Gene Organization and Analysis of Its Promoter

GATA-4 Gene Organization and Analysis of Its Promoter

Diabetes Mellitus in a Japanese Girl with HDR Syndrome and GATA3 Mutation

Transcriptional Regulation of GATA-3 by an Intronic Regulatory Region and Fetal Liver Zinc Finger Protein 1

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