GATA1 is an essential regulator of erythroid cell gene expression and maturation. In its absence, erythroid progenitors are arrested in differentiation and undergo apoptosis. Much has been learned about GATA1 function through animal models, which include genetic knockouts as well as ones with decreased levels of expression.

GATA-binding factor 1 or GATA-1 (also termed Erythroid transcription factor) is the founding member of the GATA family of transcription factors. This protein is widely expressed throughout vertebrate species. In humans and mice, it is encoded …

2022年4月21日 · GATA1 mutations have been linked to congenital dyserythropoietic anemia and fall into 2 main classes: (1) splicing or start codon mutations leading to expression of a shorter GATA1 protein (GATA1s) starting at amino acid 84, or (2) mutations in the first ZnF domain, disrupting interactions with cofactors (see figure).

All GATA-1 mutations leading to XLT appear to solely affect GATA-1:FOG-1 interaction on N-f, and leave its ability to bind complex DNA sites intact. Thus the clinical consequences of these mutations result from reduced co-factor affinity, and not decreased stability of the GATA interaction with RBC and MK target genes at complex sites.

2017年4月13日 · Acquired and inherited GATA1 mutations contribute to Diamond-Blackfan anemia, acute megakaryoblastic leukemia, transient myeloproliferative disorder, and a group of related congenital dyserythropoietic anemias with thrombocytopenia.

2023年8月17日 · As proof-of-concept, we aimed to delineate the low-expressing complement receptor 1 (CR1) Helgeson phenotype on erythrocytes, which is correlated with several diseases and protects against severe...

2024年12月25日 · GATA1 (GATA Binding Protein 1) is a Protein Coding gene. Diseases associated with GATA1 include Thrombocytopenia With Beta-Thalassemia, X-Linked and Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities. Among its related pathways are Gene expression (Transcription) and Assembly of the pre-replicative complex.

GATA1, also known as NF-E1, NF-1, Ery-1 and GF-1, is the founding member of the GATA family of transcription factors. It was first identified as a protein with binding specificity to the β -globin 3′ enhancer (117) and cloned from a mouse erythroleukemia cell line cDNA expression library (105) and from chicken red cells (21).

With respect to the latter disorder, the presence of a GATA1 mutation is now arguably the defining feature of this leukemia. In this review, I will summarize our current knowledge of the role of GATA-1 in normal development, and discuss how mutations in GATA1 lead to abnormal and malignant hematopoiesis.

2021年8月1日 · GATA2 downregulation in adult erythropoiesis is not initiated by a GATA1-induced stop of GATA2 production, but by a shortening of cell cycle length. These findings correct current assumptions about the GATA switch and demonstrate a role of regulated cell cycle dynamics in regulating RBC differentiation.