A point mutation of gata-2 in AML

Masayuki Towatari, Akihiro Tomita, Fumihiko Hayakawa, Hidehiko Saito

Research output: Contribution to journalArticle

1 Citation (Scopus)

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
JournalBlood
Volume96
Issue number11 PART II
Publication statusPublished - 01-12-2000
Externally publishedYes

Fingerprint

Point Mutation
Acute Myeloid Leukemia
Zinc
GATA2 Transcription Factor
Zinc Fingers
Stem cells
Proline
Arginine
Mutation
Substitution reactions
Demonstrations
Nucleotides
Complementary DNA
Hematopoietic Stem Cells
DNA Sequence Analysis
Amino Acids
DNA
Maintenance

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology

Cite this

Towatari, M., Tomita, A., Hayakawa, F., & Saito, H. (2000). A point mutation of gata-2 in AML. Blood, 96(11 PART II).
Towatari, Masayuki ; Tomita, Akihiro ; Hayakawa, Fumihiko ; Saito, Hidehiko. / A point mutation of gata-2 in AML. In: Blood. 2000 ; Vol. 96, No. 11 PART II.
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Towatari, M, Tomita, A, Hayakawa, F & Saito, H 2000, 'A point mutation of gata-2 in AML', Blood, vol. 96, no. 11 PART II.

A point mutation of gata-2 in AML. / Towatari, Masayuki; Tomita, Akihiro; Hayakawa, Fumihiko; Saito, Hidehiko.

In: Blood, Vol. 96, No. 11 PART II, 01.12.2000.

Research output: Contribution to journalArticle

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Towatari M, Tomita A, Hayakawa F, Saito H. A point mutation of gata-2 in AML. Blood. 2000 Dec 1;96(11 PART II).