The K562 human chronic myelogenous leukemia (CML) cell line has attain
ed widespread use as a model for studying hematologic malignancy and e
rythroid 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 mutat
ion 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 transcri
pt but Western blotting and immunohistochemical staining of cells fail
ed to detect p53 protein. The identification of an inactivation mutati
on of p53 in the K562 cell line further supports the argument that p53
mutations play a role in myeloid blast transformation of CML.