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 language | English |
|---|---|
| Pages (from-to) | 3643-3648 |
| Number of pages | 6 |
| Journal | Nucleic Acids Research |
| Volume | 25 |
| Issue number | 18 |
| DOIs | |
| Publication status | Published - Sep 15 1997 |
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Mutation frequencies at codon 248 of the p53 tumour suppressor gene are not increased in colon cancer cell lines with the RER+ phenotype. / Mancuso, Tommaso; Aguilar, Fernando; Pescarolo, Maria Pia; Clerico, Luana; Russo, Patrizia; Parodi, Silvio.
In: Nucleic Acids Research, Vol. 25, No. 18, 15.09.1997, p. 3643-3648.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Mutation frequencies at codon 248 of the p53 tumour suppressor gene are not increased in colon cancer cell lines with the RER+ phenotype
AU - Mancuso, Tommaso
AU - Aguilar, Fernando
AU - Pescarolo, Maria Pia
AU - Clerico, Luana
AU - Russo, Patrizia
AU - Parodi, Silvio
PY - 1997/9/15
Y1 - 1997/9/15
N2 - 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.
AB - 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.
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UR - http://www.scopus.com/inward/citedby.url?scp=0030765791&partnerID=8YFLogxK
U2 - 10.1093/nar/25.18.3643
DO - 10.1093/nar/25.18.3643
M3 - Article
C2 - 9278485
AN - SCOPUS:0030765791
VL - 25
SP - 3643
EP - 3648
JO - Nucleic Acids Research
JF - Nucleic Acids Research
SN - 0305-1048
IS - 18
ER -