title: Mutational inactivation of the p53 gene in the human erythroid leukemic K562 cell line.
abstract: The K562 human chronic myelogenous leukemia (CML) cell line has attained widespread use as a model for studying hematologic malignancy and erythroid differentiation. Sequencing of the p53 gene in the K562 cell line demonstrated a mutation in exon 5 characterized by a single base insertion (cytosine) between codons 135 and 136. This frameshift mutation leads to an N-terminal truncated protein of 147 amino acids. Only the mutated sequence was present suggesting that the normal allele has been lost. Reverse transcription PCR (RT-PCR) detected a p53 transcript but Western blotting and immunohistochemical staining of cells failed to detect p53 protein. The identification of an inactivation mutation of p53 in the K562 cell line further supports the argument that p53 mutations play a role in myeloid blast transformation of CML.
authors.affiliation: Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, PA 15261.
authors.forename: J C
authors.initials: JC
authors.lastname: Law
authors.forename: M K
authors.initials: MK
authors.lastname: Ritke
authors.forename: J C
authors.initials: JC
authors.lastname: Yalowich
authors.forename: G H
authors.initials: GH
authors.lastname: Leder
authors.forename: R E
authors.initials: RE
authors.lastname: Ferrell
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D015153:Blotting, Western; D002460:Cell Line; D003062:Codon; D003596:Cytosine; D017931:DNA Primers; D004251:DNA Transposable Elements; D004273:DNA, Neoplasm / Q000235:genetics / Q000302:isolation & purification; D005091:Exons; D016158:Genes, p53; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D014407:Tumor Cells, Cultured; D016159:Tumor Suppressor Protein p53 / Q000096:biosynthesis* / Q000302:isolation & purification
chemical_list: D003062:Codon; D017931:DNA Primers; D004251:DNA Transposable Elements; D004273:DNA, Neoplasm; D016159:Tumor Suppressor Protein p53; D003596:Cytosine