Inactivation of the p53 tumor suppressor gene via a novel Alu rearrangement

Cancer Res. 1998 Dec 1;58(23):5333-6.

Abstract

Inactivation of the p53 tumor suppressor gene is a common finding in human cancer. In most cases, inactivation is due to a point mutation in the gene, but rearrangement of the p53 gene is sometimes observed. We analyzed the inactivation of p53 in the human pancreas cancer cell line Hs766T, which harbors a structural alteration in the p53 gene. This inactivation was found to be the result of a complex deletion/insertion event involving at least two different Alu elements. The rearrangement eliminated exons 2-4 from the p53 gene, whereas a 175-bp Alu fragment was inserted between the breakpoints of the deletion. DNA sequence analysis of this Alu fragment revealed that it is identical to an Alu element in intron 1 of the p53 gene. This is the first report of p53 inactivation due to a rearrangement involving Alu elements. This type of inactivation may go unnoticed when only traditional methods to detect p53 alterations are used.

MeSH terms

  • Alu Elements*
  • Base Sequence
  • DNA Transposable Elements
  • DNA, Neoplasm / genetics
  • Exons
  • Gene Expression Regulation, Neoplastic*
  • Gene Rearrangement*
  • Genes, p53*
  • Humans
  • Molecular Sequence Data
  • Pancreatic Neoplasms / genetics
  • Tumor Cells, Cultured

Substances

  • DNA Transposable Elements
  • DNA, Neoplasm