title: 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.
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.
authors.affiliation: Third Department of Internal Medicine, Kyoto Prefectural University of Medicine, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Nakai
authors.forename: H
authors.initials: H
authors.lastname: Kaneko
authors.forename: S
authors.initials: S
authors.lastname: Horiike
authors.forename: Y
authors.initials: Y
authors.lastname: Ariyama
authors.forename: S
authors.initials: S
authors.lastname: Misawa
authors.forename: K
authors.initials: K
authors.lastname: Kashima
authors.forename: K
authors.initials: K
authors.lastname: Ishizaki
mesh_terms: D001483:Base Sequence; D001752:Blast Crisis / Q000235:genetics*; D002869:Chromosome Aberrations; D002886:Chromosomes, Human, Pair 17; D004273:DNA, Neoplasm / Q000235:genetics; D005091:Exons / Q000235:genetics; D016158:Genes, p53 / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012326:RNA Splicing; D012194:RNA-Directed DNA Polymerase
chemical_list: D004273:DNA, Neoplasm; D012194:RNA-Directed DNA Polymerase