Novel genetic variations of the p53R2 gene in patients with colorectal adenoma and controls
AIM: p53-Inducible ribonucleotide reductase small subunit 2 (p53R2) encodes a 351-amino-acid peptide, which catalyzes conversion of ribonucleoside diphosphates to the corresponding deoxyribonucleotides required for DNA replication and repair. A recent study reported that a point mutation (G/T) in th...
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Summary: | AIM: p53-Inducible ribonucleotide reductase small subunit 2 (p53R2) encodes a 351-amino-acid peptide, which catalyzes conversion of ribonucleoside diphosphates to the corresponding deoxyribonucleotides required for DNA replication and repair. A recent study reported that a point mutation (G/T) in the p53 binding sequence in a colon cancer cell line completely impaired p53R2 protein activity. METHODS: We screened the p53R2 gene coding regions and a regulatory region which contains a p53 binding sequence in 100 patients with colorectal adenoma and 100 control subjects using PCR, cold SSCP, and direct DNA sequencing. RESULTS: Although we did not identify genetic variation in all nine exons, four regulatory-region variants were found, of which three were single nucleotide polymorphisms (SNPs) (nt 1 789 C/G, nt 1 928 A/G, 1 933 T/C), and one was 20 bp insertion which replaced a ATTTT between nt 1 831 and 1 835. Additionally, we determined the frequency of these p53R2 variants in a recently concluded case-control study of incident sporadic colorectal adenomas (163 cases and 210 controls). CONCLUSION: Although more detailed functional characterizations of these polymorphisms remain to be undertaken, these polymorphic sites may be useful for identifying alleles associated with mis-splicing, additional transcript factors and, more generally, in cancer-susceptibility association studies. |
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Bibliography: | R735.3 p53R2, SSCP 14-1219/R Genetic polymorphism PCR-RFLP Colorectal neoplasia Genetic polymorphism; Colorectal neoplasia;p53R2, SSCP; PCR-RFLP ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Correspondence to: Dr. Da-Wen Xie, University of South Carolina, 14 Richland Medical Park, Suite 500, Columbia, SC 29203, United States. dawen.xie@palmettohealth.org Telephone: +1-803-434-3707 Fax: +1-803-434-3795 Author contributions: All authors contributed equally to the work. |
ISSN: | 1007-9327 2219-2840 |
DOI: | 10.3748/wjg.v11.i33.5169 |