期刊
NATURE GENETICS
卷 27, 期 3, 页码 263-270出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/85820
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资金
- NCI NIH HHS [CA72009] Funding Source: Medline
- NHLBI NIH HHS [HL56745] Funding Source: Medline
The transcription factor C/EBP alpha (for CCAAT/enhancer binding protein-alpha; encoded by the gene CEBPA) is crucial for the differentiation of granulocytes. Conditional expression of C/EBP alpha triggers neutrophilic differentiation, and no mature granulocytes are observed in Cebpa-mutant mice. Here we identify heterozygous mutations in CEBPA in ten patients with acute myeloid leukemia (AML). We found that five mutations in the amino terminus truncate the full-length protein, but did not affect a 30-kD protein initiated further downstream. The mutant proteins block wild-type C/EBP alpha DNA binding and transactivation of granulocyte target genes in a dominant-negative manner. and fails to induce granulocytic differentiation. Ours is the first report of CEBPA mutations in human neoplasia. and such mutations are likely to induce the differentiation block found in AML.
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