• GATA1 codes for two zinc finger structural motifs, C-ZnF and N-ZnF, that are present in both GATA1 and GATA1-S proteins. (wikipedia.org)
  • Based primarily on mouse studies, it is proposed that the GATA1-FOG1 complex promotes human erythropoiesis by recruiting and binding with at least two gene expression-regulating complexes, Mi-2/NuRD complex (a chromatin remodeler) and CTBP1 (a histone deacetylase) and three gene expression-regulating proteins, SET8 (a GATA1-inhibiting histone methyltransferase), BRG1 (a transcription activator), and Mediator (a transcription co-activator). (wikipedia.org)
  • Here, we report an interaction between H3K4 demethylase JARID1A and the haematopoietic-specific master transcription proteins SCL and GATA1 in red blood cells. (ox.ac.uk)
  • Through its activity as a transcription factor and its interactions with other proteins, the GATA1 protein regulates the growth and division (proliferation) of immature red blood cells and platelet-precursor cells (megakaryocytes) and helps with their differentiation. (medlineplus.gov)
  • GATA1 gene mutations disrupt the protein's ability to bind with DNA or interact with other proteins. (medlineplus.gov)
  • Huang and Chang then looked at the proteins GATA1 and PU.1, transcription factors that normally favor differentiation into red and white blood cells, respectively. (sciencedaily.com)
  • The scientists searched for transcription factors-proteins that bind to the DNA of other genes to turn them on or off-that were capable of regulating the 5 genes. (nih.gov)
  • Snail2 is a zinc-finger transcription factor best known to repress expression of genes encoding cell adherence proteins to facilitate induction of the epithelial-to-mesenchymal transition. (bvsalud.org)
  • The histone H3K4 demethylase JARID1A directly interacts with haematopoietic transcription factor GATA1 in erythroid cells through its second PHD domain. (ox.ac.uk)
  • Mutations in GATA1 have been identified in trisomy 21 patients with AMKL, and this lesion is thought to be an initial event by virtue of its presence during transient leukemia. (nih.gov)
  • Mutations in the GATA1 gene cause dyserythropoietic anemia and thrombocytopenia. (medlineplus.gov)
  • Both disorders are characterised by recurring truncating somatic mutations of the GATA1 gene, which are considered key pathogenetic events. (smj.org.sg)
  • We herein report, to our knowledge, the first observation on the frequency and nature of GATA1 gene mutations in a cohort of Malaysian children with DS-associated TAM (n = 9) and ML-DS (n = 24) encountered successively over a period of five years at a national referral centre. (smj.org.sg)
  • Of the 29 patients who underwent GATA1 analysis, GATA1 mutations were observed in 15 (51.7%) patients, including 6 (75.0%) out of 8 patients with TAM, and 9 (42.9%) of 21 patients with ML-DS. (smj.org.sg)
  • The low frequency of GATA1 mutations in ML-DS patients is unusual and potentially indicates distinctive genomic events in our patient cohort. (smj.org.sg)
  • 8 ) An additional shared, critical pathogenetic event involves the acquisition of characteristic somatic mutations in the GATA1 gene. (smj.org.sg)
  • These mutations, involving exons 2 or 3 of the GATA1 gene, result in synthesis of an aberrant truncated isoform (termed short GATA1 or GATA1s ) that is putatively oncogenic. (smj.org.sg)
  • 10 ) The mechanistic basis for somatic GATA1 mutations and the additional molecular events that determine progression from TAM to ML-DS are the focus of intense research. (smj.org.sg)
  • This observational study attempts to characterise, for the first time, to our knowledge, the frequency and nature of somatic GATA1 mutations in DS children with TAM and ML-DS, encountered consecutively over a period of five years at a national paediatric oncology referral centre in Malaysia. (smj.org.sg)
  • In humans and mice, it is encoded by the GATA1 and Gata1 genes, respectively. (wikipedia.org)
  • GATA1 regulates the expression (i.e. formation of the genes' products) of an ensemble of genes that mediate the development of red blood cells and platelets. (wikipedia.org)
  • FOG1 powerfully promotes or suppresses the actions that the two transcription factors have on most of their target genes. (wikipedia.org)
  • The GATA1 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and helps control the activity of many other genes. (medlineplus.gov)
  • To exert stimulatory or repressive effects on transcription, accessible regulatory DNA elements must be in close spatial proximity to susceptible genes. (biomedcentral.com)
  • Enhancers promote transcription by providing a binding platform for transcription factors [ 12 ] that can act on (distal) target genes through three-dimensional chromatin looping [ 13 - 15 ]. (biomedcentral.com)
  • Activates the transcription of genes involved in erythroid differentiation of K562 erythroleukemia cells, including HBB, HBG1/2, ALAS2 and HMBS (PubMed:24245781). (qedbio.com)
  • Raising expression of Gata1 in cultured rat neurons decreased the expression of synapse-related genes. (nih.gov)
  • By analyzing the methylomes and transcriptomes of 14 fetal and 181 adult livers, we identified 657 differentially methylated genes with adult-specific expression, these genes were enriched for transcription factor binding sites of HNF1A and HNF4A. (biomedcentral.com)
  • We also identified 1,000 genes specific to fetal liver, which were enriched for GATA1, STAT5A, STAT5B and YY1 binding sites. (biomedcentral.com)
  • The mesenchymal phenotype is associated with high expression levels of Snai1, a zinc-finger transcription factor that regulates metastasis by down-regulating the expression of genes such as E-cadherin ( 17 ). (iiarjournals.org)
  • Human and mouse GATA1 genes encode a critical hematopoietic transcription factor conserved in expression and function. (ox.ac.uk)
  • These findings suggest that some cis-elements regulating human and mouse GATA1 genes differ. (ox.ac.uk)
  • We used the AliBaba2.1 software to determine if the nucleotide changes of the associated SNPs changed the prediction of the presence of transcription-binding site sequences and we also analyzed the gene expression of the genes selected based on binding predictions. (medipol.edu.tr)
  • Regarding the prediction of the transcription-binding site, the base change of the SNP rs17074565 was found to change the predicted-binding of genes that could be involved in the pathogenesis of caries. (medipol.edu.tr)
  • 9 ) The gene, located on chromosome X ( Xp11.23 ), encodes a key haematopoietic transcription factor involved in erythroid and megakaryocyte differentiation. (smj.org.sg)
  • It is 7.74 kilobases in length, consists of 6 exons, and codes for a full-length protein, GATA1, of 414 amino acids as well as a shorter one, GATA1-S. GATA1-S lacks the first 83 amino acids of GATA1 and therefore consists of only 331 amino acids. (wikipedia.org)
  • N-terminus zinc fingers) interacts with an essential transcription factor-regulating nuclear protein, FOG1. (wikipedia.org)
  • On the basis of this action, the GATA1 protein is known as a transcription factor. (medlineplus.gov)
  • The GATA1 protein is involved in the specialization (differentiation) of immature blood cells. (medlineplus.gov)
  • An abnormal GATA1 protein causes immature red blood cells to undergo a form of programmed cell death called apoptosis. (medlineplus.gov)
  • Background GATA1 encodes a protein, GATA1, which belongs to the GATA family of transcription factors. (qedbio.com)
  • Molecular chaperones are essential for stabilizing the fragile structures of many receptors, protein kinases, and transcription factors that participate in the pathways of normal cellular growth. (biomedcentral.com)
  • The CCCTC-binding factor (CTCF) is a highly conserved insulator protein that plays various roles in many cellular processes. (biomedcentral.com)
  • BRCA2 gene promoter has bi-directional activity, expressing BRCA2 and a novel C4-type zinc finger containing transcription factor ZAR2. (biomedcentral.com)
  • Reduced levels of GATA1 due to reductions in the translation of GATA1 mRNA into its transcription factor product are associated with promoting the progression of myelofibrosis, i.e. a malignant disease that involves the replacement of bone marrow cells by fibrous tissue and extramedullary hematopoiesis, i.e. the extension of blood cell-forming cells to sites outside of the bone marrow. (wikipedia.org)
  • Binding of sequence-specific transcription factors and associated chromatin-modifying enzymes can induce post-translational modification of histone tails and can facilitate nucleosome removal [ 3 - 5 ], which can turn functional sequences such as promoters and enhancers into active, nucleosome-depleted sites [ 2 ]. (biomedcentral.com)
  • Here, we compared sequence and systematically mapped position of DNase I hypersensitive sites, acetylation status of histone H3/H4, and in vivo binding of transcription factors over approximately 120 kilobases flanking the human GATA1 gene and the corresponding region in mice. (ox.ac.uk)
  • Differences in the chromatin structure and cis-element organization of the human and mouse GATA1 loci: implications for cis-element identification. (ox.ac.uk)
  • The human GATA1 gene is located on the short (i.e. "p") arm of the X chromosome at position 11.23. (wikipedia.org)
  • SP1 and GATA3) and HDAC2-GATA1 regulatory networks on rescued regions in K562 cell line. (biomedcentral.com)
  • When the subject carries the G allele of rs17074565, the potential transcription factor predicted to bind to the sequence is GATA3. (medipol.edu.tr)
  • Studies in Gata1-knockout mice, i.e. mice lacking the Gata1 gene, indicate that this gene is essential for the development and maintenance of blood-based and/or tissue-based hematological cells, particularly red blood cells and platelets but also eosinophils, basophils, mast cells, and dendritic cells. (wikipedia.org)
  • These impairments in the GATA1 protein's normal function result in an increased proliferation of megakaryocytes and a decrease in mature platelets, leading to abnormal bleeding. (medlineplus.gov)
  • Results Our findings indicate that the platelets in HD are dysfunctional with respect to the release of angiogenic factors and functions including thrombosis, angiogenesis and vascular haemostasis. (bmj.com)
  • Proper control of GATA1 transcription is critical in regulating myeloid lineage specification and maturation. (ox.ac.uk)
  • Blood stem cells with low levels of Sca-1 differentiated into red blood cell progenitors seven times more often than cells high in Sca-1 when exposed to erythropoietin, a growth factor that promotes red blood cell production. (sciencedaily.com)
  • Conversely, when stem cells were exposed to granulocyte--macrophage colony-stimulating factor, which stimulates white blood cell formation, those that were highest in Sca-1 were the most likely to become white cells. (sciencedaily.com)
  • Blood stem cells that were low in Sca-1 (and most prone to become red blood cells) had much more GATA1 than did the high- and medium-Sca-1 cells. (sciencedaily.com)
  • But most important, the differences in Sca-1, GATA1 and PU.1 levels across the three cell groups became less pronounced over time, as did the variability in the cells' propensity to differentiate, suggesting that the differences are transient. (sciencedaily.com)
  • 2008). Historically, this concept is highlighted by the experi- factors are key intrinsic regulators of these fate decisions and mental phenomenon of lineage reprogramming, for example, that fate choice involves modulating networks of transcription by the conversion of fibroblasts to muscles cells following trans- factors. (lu.se)
  • In reality, gene somatic cells to a pluripotent cell state by a handful of transcrip- expression is graded, making the potential gene expression tion factors (Takahashi and Yamanaka, 2006). (lu.se)
  • More broadly, there are both species- and regulatory element-specific patterns of transcription factor binding. (ox.ac.uk)
  • These motifs are critical for both transcription factors' gene-regulating actions. (wikipedia.org)
  • Specificity This antibody detects endogenous human, mouse, and rat GATA1 only when phosphorylated at serine 310. (qedbio.com)
  • Further work by Fagnan et al in an animal model found that aberrant expression of oncogenic driver transcription factors results in erythroleukemia by downregulating the GATA1-regulated erythroid epigenome. (medscape.com)
  • We show that circuits normally involved in emotion, as well as cognition, are disrupted when this single transcription factor is activated," Duman explains. (nih.gov)
  • Lacking the first 83 amino acids and therefore one of the two activation domains of GATA1, GATA1-S has significantly less gene-regulating activity than GATA1. (wikipedia.org)
  • They found one called GATA1 that is expressed significantly more in the brains of people with major depressive disorder. (nih.gov)
  • Studies using mice depleted of their Gata1 gene during adulthood show that: 1) Gata1 is required for the stimulation of erythropoiesis (i.e. increase in red blood cell formation) in response to stress and 2) Gata1-deficient adult mice invariably develop a form of myelofibrosis. (wikipedia.org)
  • At 27C, the residence time is estimated to 0.2 ns, a factor of 40 shorter than the tumbling time of the duplex. (lu.se)
  • In vitro methods for producing antibodies are amenable to large-scale production, meaning antibody availability is unlikely to become a limiting factor. (cellsignal.com)
  • in situations where an antibody will be used to support large, long-term studies, this can be an especially critical factor. (cellsignal.com)
  • De novo cases of erythroleukemia are not associated with any identifiable risk factors. (medscape.com)
  • Specifically, we observe a direct physical contact between GATA1 and the second PHD domain of JARID1A. (ox.ac.uk)
  • Conclusions: Genetic factors contributing to caries experience may exist in 13q31.1. (medipol.edu.tr)