کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2140372 | 1088234 | 2013 | 5 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: GATA2 zinc finger 2 mutation found in acute myeloid leukemia impairs myeloid differentiation GATA2 zinc finger 2 mutation found in acute myeloid leukemia impairs myeloid differentiation](/preview/png/2140372.png)
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.
Journal: Leukemia Research Reports - Volume 2, Issue 1, 2013, Pages 21–25