Gata1

GATA-1 plays an important role in the development of red blood cells and megakaryocytes , from which platelets subsequently form. Mice without GATA1 die even at the stage of fetal development. GATA-1 has been shown to facilitate the transcription of the structural protein α- spectrin , which is crucial for the shape of red blood cells. Thus, it was found that in the presence of GATA-1 in the human body, the transcription rate of the α-spectrin gene increases by two orders of magnitude ^[3] .

The GATA-1 molecule contains three regions: C-finger ^[4] , N-finger ^[5] and activation domain . The C-finger, so named in connection with the proximity of the , has a of the zinc finger type. The N-finger, so named in connection with the proximity of the N-terminus , binds to DNA and the protein cofactor ^{[6] [7]} . The activation domain is responsible for accelerating the activation of GATA-1 transcription .

Mutations in GATA1 cause anemia and thrombocytopenia ^{[8] [9]} . Pathological GATA1 mutations can affect zinc fingers in DNA-binding domains, as well as domains responsible for the interaction of GATA1 with other proteins ^[10] .

Mutations in exon 2 of the GATA1 gene are present in almost all cases of acute megakaryoblastic leukemia (AMKL) associated with Down Syndrome (DS) ^{[11] [12]} . While AMKL is typically associated with translocation (1; 22) and expression of a fused mutant protein, the genetic changes that are characteristic of people with DS-AMKL are associated with GATA1 mutations and the formation of truncated transcription factor (GATA1s).

The same mutations in exon 2 GATA1 is present in almost all cases of (TMD) associated with Down Syndrome or transient leukemia (TL). A precursor condition that develops into AMKL in 30% of patients may develop in more than 10% of children with Down Syndrome ^[13] . The incidence of the GATA1 mutation is approximately 4% in patients with Down syndrome, but less than 10% of them develop AMKL ^[14] . This mutation is present in the fetus, playing an early role in the onset and development of leukemia. In addition to TL screening, the GATA1 mutation at birth can serve as a biomarker of an increased risk of developing DS-linked AMKL ^[15] .

Elevated levels of GATA1 expression have been identified in patients with major depressive disorder . The expression of GATA1 in the prefrontal cortex leads to a decrease in the expression of genes necessary for the formation of synapses , loss of dendritic spines and dendrites and can cause depressive behavior in rats ^[16] .

GATA1 has been found to interact with:

• ^{[17] [18] [19]} ,
• BRD4 ^[17] ,
• ^{[20] [21]} ,
• HDAC1 ^[22] ,
• HDAC3 ^[22] ,
• HDAC4 ^[22] ,
• HDAC5 ^[22] ,
• ^[23] ,
• ^[24] ,
• ZBTB16 ^[25] ,
• ^[26] .