GATA1 in normal and malignant hematopoiesis

Semin Cell Dev Biol. 2005 Feb;16(1):137-47. doi: 10.1016/j.semcdb.2004.11.002. Epub 2004 Dec 13.


In the late 1980s, several research groups independently discovered the founding member of the GATA family of transcription factors, GATA-1. Each group had evidence that GATA-1 played an important role in erythroid gene expression, but little did they know that it would turn out to be a key regulator of development of not only red blood cells, but of several other hematopoietic cell types as well. Furthermore, few would have guessed that missense mutations in GATA1 would cause inherited blood disorders, while acquired mutations would be found associated with essentially all cases of acute megakaryoblastic leukemia (AMKL) in children with Down syndrome (DS). 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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Anemia / genetics
  • DNA-Binding Proteins / genetics*
  • Down Syndrome / complications
  • Down Syndrome / genetics
  • Erythroid-Specific DNA-Binding Factors
  • GATA1 Transcription Factor
  • Genetic Predisposition to Disease
  • Hematopoiesis / genetics*
  • Humans
  • Leukemia / complications
  • Leukemia / genetics*
  • Mutation
  • Thrombocytopenia / genetics
  • Transcription Factors / genetics*


  • DNA-Binding Proteins
  • Erythroid-Specific DNA-Binding Factors
  • GATA1 Transcription Factor
  • GATA1 protein, human
  • Transcription Factors