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 ?
Developmental Stage-Selective Effect of Somatically Mutated GATA-1 in Down Syndrome AML M7-a Potential Basis for Transient Myeloproliferative Disorder [Abstract 463]
Doctors have identified acquired mutations of the gene GATA-1 in nearly all newborns with Down Syndrome (DS) who develop a transient myeloproliferative disorder (termed TMD), an abnormal hematologic condition seen shortly after birth or in the neonatal period that is characterized by leukocytosis, an abnormal increase in white blood cell count, and thrombocytopenia, a low platelet count in the blood.
The first suggests that the GATA-1 mutation in DS may occur only during a specific development window.
In their study, the team created mice from embryonic stem cells engineered to harbor the specific mutant form of GATA-1 observed in DS patients.
The biological effects of mutant GATA-1 appear to be restricted to progenitor cells that are present only at embryonic and early fetal liver stages of development.