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

H. Nakai, H. Kaneko, S. Horiike, Y. Ariyama, S. Misawa, K. Kashima, K. Ishizaki

Research output: Contribution to journalArticle

10 Scopus citations

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 aberrarnt p53 transcripts in this case might not result from splicing mutations but from an unknown affected splicing process.

Original languageEnglish (US)
Pages (from-to)839-842
Number of pages4
JournalBritish Journal of Haematology
Volume87
Issue number4
DOIs
StatePublished - Jan 1 1994

Keywords

  • Aberrant splicing
  • CML
  • Chromosome 17
  • Splicing mutation
  • p53

ASJC Scopus subject areas

  • Hematology

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