GATA2 zinc finger 2 mutation found in acute myeloid leukemia impairs myeloid differentiation

Keiko Niimi, Hitoshi Kiyoi, Yuichi Ishikawa, Fumihiko Hayakawa, Shingo Kurahashi, Rika Kihara, Akihiro Tomita, Tomoki Naoe

研究成果: Article査読

10 被引用数 (Scopus)

抄録

We identified two novel GATA2 mutations in acute myeloid leukemia (AML). One mutation (p.R308P-GATA2) was a R308P substitution within the zinc finger (ZF)-1 domain, and the other (p.A350_N351ins8-GATA2) was an eight-amino-acid insertion between A350 and N351 residues within the ZF-2 domain. p.R308P-GATA2 did not affect DNA-binding and transcriptional activities, while p.A350_N351ins8-GATA2 reduced them, and impaired G-CSF-induced granulocytic differentiation of 32D cells. Although p.A350_N351ins8-GATA2 did not show a dominant-negative effect over wild-type (Wt)-GATA2 by the reporter assay, it might be involved in the pathophysiology of AML by impairing myeloid differentiation because of little Wt-GATA2 expression in primary AML cells harboring the p.A350_N351ins8 mutation.

本文言語English
ページ(範囲)21-25
ページ数5
ジャーナルLeukemia Research Reports
2
1
DOI
出版ステータスPublished - 2013
外部発表はい

All Science Journal Classification (ASJC) codes

  • 血液学
  • 腫瘍学

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