A splicing mutation accounts for the lack of p53 gene expression in a CML blast crisis cell line: a novel mechanism of p53 gene inactivation

Br J Haematol. 1990 Sep;76(1):143-5. doi: 10.1111/j.1365-2141.1990.tb07849.x.


Alterations of the p53 anti-oncogene have recently been found to occur frequently in the blast crisis of chronic myelocytic leukaemia. The p53 gene may be altered by gross structural alterations or by point mutations in the coding sequence. We now report a novel mechanism of gene inactivation in a blast crisis cell line where a mutation in a splice donor site at the 5' end of the fifth intron of the gene interrupts RNA processing and gene expression.

MeSH terms

  • Base Sequence
  • Blast Crisis / genetics*
  • Blotting, Northern
  • Blotting, Southern
  • Cell Line
  • Gene Expression / genetics*
  • Humans
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / pathology
  • Molecular Sequence Data
  • Mutation
  • Polymerase Chain Reaction