A point mutation of gata-2 in AML

Masayuki Towatari, Akihiro Tomita, Fumihiko Hayakawa, Hidehiko Saito

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Abstract

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.

Original languageEnglish
Pages (from-to)207b
JournalBlood
Volume96
Issue number11 PART II
Publication statusPublished - 01-12-2000
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology

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    Towatari, M., Tomita, A., Hayakawa, F., & Saito, H. (2000). A point mutation of gata-2 in AML. Blood, 96(11 PART II), 207b.