Multiple aberrant splicing of the p53 transcript without genomic mutations around exon-intron junctions in a case of chronic myelogenous leukaemia in blast crisis: a possible novel mechanism of p53 inactivation

Br J Haematol. 1994 Aug;87(4):839-42. doi: 10.1111/j.1365-2141.1994.tb06747.x.

Abstract

We found three truncated p53 transcripts in a patient with chronic myelogenous leukaemia in blast crisis carrying chromosome 17 abnormalities. Sequencing of these transcripts revealed complete absence of the entire exons 7, 8 and 9 in one, exons 8 and 9 in another, and exon 10 in the other. Sequencing analysis of genomic DNA, however, revealed no mutation in exons 6-10 and their flanking introns. These results suggest that the aberrant p53 transcripts in this case might not result from splicing mutations but from an unknown affected splicing process.

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Blast Crisis / genetics*
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 17*
  • DNA, Neoplasm / genetics
  • Exons / genetics
  • Genes, p53 / genetics*
  • Humans
  • Introns / genetics
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • RNA Splicing*
  • RNA-Directed DNA Polymerase

Substances

  • DNA, Neoplasm
  • RNA-Directed DNA Polymerase