GATA1


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GATA1

A gene on chromosome Xp11.23 that encodes a protein of the GATA family of transcription factors, which plays a key role in erythroid development by regulating the switch of foetal to adult haemoglobin.

Molecular pathology
GATA1 mutation is associated with X-linked dyserythropoietic anaemia and thrombocytopaenia.
References in periodicals archive ?
This laboratory-developed NGS test protocol is based on a well-validated research use-only kit that targets 54 genes, including all exons of 15 genes (BCOR, BCORL1, CDKN2A, CEBPA, CUX1, DNMT3A, ETV6, EZH2, IKZF1, KDM6A, PHF6, RAD21, RUNX1, STAG2, and ZRSR2) and hot spot exons/regions of 39 genes (ABL1, ASXL1, ATRX, BRAF, CALR, CBL, CBLB, CBLC, CSF3R, FBXW7, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KIT, KMT2A/MLL, KRAS, MPL, MYD88, NOTCH1, NPM1, NRAS, PDGFRA, PTEN, PTPN11, SETBP1, SF3B1, SMC1A, SMC3, SRSF2, TET2, TP53, U2AF1, and WT1).
Gel shift assays confirmed the exclusive binding of GATA1 to the sequence containing the rs1800795 G allele following norepinephrine induction (Cole et al.
Zhang and Wu have found out that stimulating the gene expression of [gamma]-globin, EpoR, Spi, and FKLF, while hindering the gene expression of Ckit, GATA1, and GATA2, could promote the [gamma]-globin gene expression and alter the expression of gene which is responsible for the regulation of [gamma]-globin gene expression and the expression of other genes that are participated in the survival, proliferation, and terminal differentiation of erythroid cells [76].
When the transcription factor was activated, rodents exhibited depressive-like symptoms, suggesting GATA1 plays a role not only in the loss of connections between neurons but also in symptoms of depression.
26) An example of the finding in these studies is that down-regulation of BCL11A expression in adult human erythroid precursors led to robust induction of HbF, (27) and mechanistically, BCL11A interacts with the Mi-2/NuRD chromatin remodeling complexes, as well as the erythroid transcription factors GATA1 and FOG1, in erythroid progenitors.
Towards an understanding of lineage specification in hematopoietic stem cells: a mathematical model for the interaction of transcription factors GATA1 and PU.
Moreover, acetylation of other crucial transcription factors like E2F, GATA1 at sites adjacent to DNA binding domain enhances the transcriptional activity whereas acetylation at sites within the DNA binding domain disrupts the DNA binding, e.
Five years ago, researchers reported that one-fifth of people with Down syndrome who have acute myeloid leukemia have a mutation in a gene called GATA1 on the X chromosome.
GATA1 (GATA binding protein 1) is essential for normal erythropoiesis, with a crucial role in cell survival and maturation (13).
Ademas de los rearreglos cromosomicos tambien pueden ocurrir mutaciones puntuales que afectan los factores de transcripcion como C/EBP alpha, GATA1 y AML1 o afectar receptores de tirosina quinasas como el FLT3 y el c-KIT (Gisselbrecht 2003).
Many of the transcription factors that are recurrently mutated in myeloid malignancies, such as RUNX1, GATA1, GATA2, and CEBPA, are involved in fundamental aspects of myelopoiesis and it is believed that these mutations lead to a block in myeloid differentiation.