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Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells
Published on: February 24, 2014
C/EBP-beta, C/EBP-delta, PU.1, AML1 genes: mutational analysis in 381 samples of hematopoietic and solid malignancies
Vijaya Vegesna1, Seisho Takeuchi, Wolf-K Hofmann
1Division of Hematology/Oncology, Cedars-Sinai Research Institute, UCLA School of Medicine, Los Angeles, CA 90048, USA.
Abstract:
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-beta 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 (A177G). 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.

