The amounting evidence indicates that a transcription factor GATA-2 plays a critical role in the maintenance of normal hematopoietic stem cells. Nevertheless, direct demonstration of the role of GATA-2 in human hematopoietic disorder has been lacking. We have performed the sequencing GATA-2 cDNA at the entire zinc finger domain from 100 acute myeloid leukemia (AML) patients. In one AML sample, a point mutation generating a substitution of arginine (R) for proline (P) at amino acid 308 of GATA-2 which is located at the amino-terminal zinc finger domain. Heterozygous mutation at the same nucleotide in the AML blasts was confirmed by genomic DNA sequencing but the expression of wildtype GATA-2 was not detected. The biological relevance of the mutation is now under investigation.
|Issue number||11 PART II|
|Publication status||Published - 01-12-2000|
All Science Journal Classification (ASJC) codes
- Cell Biology