Mutation frequencies at codon 248 of the p53 tumour suppressor gene are not increased in colon cancer cell lines with the RER+ phenotype

Tommaso Mancuso, Fernando Aguilar, Maria Pia Pescarolo, Luana Clerico, Patrizia Russo, Silvio Parodi

Research output: Contribution to journalArticlepeer-review

Abstract

The replication-error positive (RER+) phenotype characterizes tumour cells with microsatellite instability. This 'mutator phenotype' is thought to induce spread mutations throughout the genome, thus increasing the risk of tumour development. Here we analyse spontaneously arising mutations at the tetranucleotide CCGG (Mspl recognition site), at positions 14,067-14,070 of the p53 gene sequence, in three colon cancer cell lines, two with microsatellite instability and one without this characteristic. This restriction site covers hot-spot codon 248, which is often mutated in colon carcinomas. Using the Mspl RFLP-PCR assay we found that the mean mutation frequency at this site was not different among the cell lines considered. Taking the substitutions separately, none of the mutations involving codon 248 arose with significantly higher frequency in each of the RER+ cell lines (HCT116 and DLD1) compared with the RER- one (SW480). Only the CG transversion at nt 14,067 (codon 247) occurred with a slightly higher, but biologically insignificant, frequency in one of the RER+ cell lines (HCT116). Our in vitro data support the previously reported lack of correlation between microsatellite instability and p53 mutations in RER+ tumour specimens.

Original languageEnglish
Pages (from-to)3643-3648
Number of pages6
JournalNucleic Acids Research
Volume25
Issue number18
DOIs
Publication statusPublished - Sep 15 1997

ASJC Scopus subject areas

  • Genetics

Fingerprint Dive into the research topics of 'Mutation frequencies at codon 248 of the p53 tumour suppressor gene are not increased in colon cancer cell lines with the RER+ phenotype'. Together they form a unique fingerprint.

Cite this