Novel genetic variations of the p53R2 gene in patients with colorectal adenoma and controls

• Published in: World journal of gastroenterology : WJG Vol. 11; no. 33; pp. 5169 - 5173
• Main Authors: Deng, Zong-Lin, Xie, Da-Wen, Bostick, Roberd M, Miao, Xi-Jiang, Gong, You-Ling, Zhang, Jin-Hui, Wargovich, Michael J
• Format: Journal Article
• Language: English
• Published: United States Tumor Center,West China Hospital,Sichuan University,Chengdu 610041,Sichuan Province,China%Department of Pathology,University of South Carolina School of Medicine and South Carolina Cancer Center,Columbia SC 29203,United States 07.09.2005; Department of Epidemiology and Biostatistics,University of South Carolina School of Public Health and South Carolina Cancer Center,Columbia SC 29203,United States%Department of Epidemiology,Rollins School of Public Health,Emory University,Atlanta,GA 30322,United States%Department of Computer Science and Engineering,University of South Carolina,Columbia SC 29201,United States%Department of Epidemiology and Biostatistics,University of South Carolina School of Public Health and South Carolina Cancer Center,Columbia SC 29203,United States; Baishideng Publishing Group Inc
• Subjects: Adenoma - genetics; Adult; Aged; Case-Control Studies; Colorectal Cancer; Colorectal Neoplasms - genetics; Female; Gene Expression Regulation; Genes, p53; Genetic Variation; Humans; Male; Middle Aged; p53R2基因; Ribonucleotide Reductases - genetics; Tumor Suppressor Protein p53 - metabolism; 病理机制; 结直肠癌; 遗传变异; SSCP; PCR-RFLP; Colorectal neoplasia; p53R2; Genetic polymorphism
• ISSN: 1007-9327; 2219-2840
• DOI: 10.3748/wjg.v11.i33.5169

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.