4.3 Article

C/EBP-β, C/EBP-δ, PU.1, AML1 genes:: mutational analysis in 381 samples of hematopoietic and solid malignancies

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LEUKEMIA RESEARCH
卷 26, 期 5, 页码 451-457

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PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/S0145-2126(01)00150-3

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C/EBP-beta; C/EBP-delta; PU.1; AML1; mutations; cancer

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Mutations of transcription factors are associated with the pathogenesis of cancer. Genomic DNA from 381 cancers and cell lines representing leukemias, lymphomas and a variety of solid tumors were examined for mutations of genes coding for the C/EBP-beta, C/EBP-alpha, PU.1, and AML1 transcription factors using single strand conformation polymorphism (SSCP) and direct DNA sequencing. Mutation of C/EBP-beta (a chronic myelogenous leukemia cell line, Kcl22) and C/EBP-delta (a Burkitt's lymphoma cell line, Raji) were found. Interestingly, the sample with a C/EBP-P alterations had two missense (P236L and G252A) and two silent mutations in a highly conserved region of the gene, The C/EBP-delta alteration in Raji was a missense mutation (A 177G). These findings suggest that mutations of the C/EBP-beta, C/EBP-delta, PU.1, and AML1 rarely contribute to the development of hematopoietic or solid cancers. (C) 2002 Elsevier Science Ltd. All rights reserved.

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