A large number of epidemiological studies have linked a common single-nucleotide polymorphism (SNP) in the human p53 gene to risk for developing a variety of cancers. This SNP encodes either an arginine or proline at position 72 (R72P) of the p53 protein, which can alter the apoptotic activity of p53 via transcriptional and non-transcriptional mechanisms. This SNP has also been reported to modulate the development of human papilloma virus (HPV)-driven cancers through differential targeting of the p53 variant proteins by the E6 viral oncoprotein. Mouse models for the p53 R72P polymorphism have recently been developed but a role for this SNP in modifying cancer risk in response to viral and chemical carcinogens has yet to be established experimentally. Here, we demonstrate that the p53 R72P polymorphism modulates the hyperprolferative, apoptotic and inflammatory phenotypes caused by expression of the HPV16 E6 and E7 oncoproteins. Moreover, the R72P SNP also modifies the carcinogenic response to the chemical carcinogen 4NQO, in the presence and absence of the HPV16 transgene. Our findings confirm several human epidemiological studies associating the codon 72 proline variant with increased risk for certain cancers but also suggest that there are tissue-specific differences in how the R72P polymorphism influences the response to environmental carcinogens.
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http://dx.doi.org/10.1002/mc.22019 | DOI Listing |
J Genet
July 2021
Human Cytogenetics Laboratory, Department of Human Genetics, Guru Nanak Dev University, Amritsar 143 005, India.
The aim of present study was to evaluate the linkage disequilibrium (LD) of p.R72P, PIN3 Ins16bp, p.P47S, p.
View Article and Find Full Text PDFOncol Lett
March 2020
Division of Clinical and Molecular Hepatology, University Hospital 'G. Martino' of Messina, 98124 Messina, Italy.
Somatic mutations in the TERT promoter and in the TP53 and CTNNB1 genes are considered drivers for hepatocellular carcinoma (HCC) development. They show variable frequencies in different geographic areas, possibly depending on liver disease etiology and environmental factors. TP53, CTNNB1 and TERT genetic mutations were investigated in tumor and non-tumor liver tissues from 67 patients with HCC and liver tissue specimens from 41 control obese subjects from Southern Italy.
View Article and Find Full Text PDFMol Biol Rep
June 2019
Department of Biochemistry, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, 51664, Iran.
Repeated implantation failure (RIF) is one the most common causes which showed during IVF (In vitro fertilization) procedure. We aim to evaluate the possibility role of nucleotide changes in rs1042522 (R72P; G/C) and rs17878362 (Ins16bp; N/D) of P53 gene in patients with RIF. In a case-control survey, we have considered 200 women, consisting of 100 cases with RIF and 100 women with the normal pregnancy.
View Article and Find Full Text PDFHum Fertil (Camb)
June 2020
Molecular Biology, Instituto Bernabeu Biotech, Alicante, Spain.
Recurrent pregnancy loss (RPL; defined as the loss of three or more consecutive pregnancies) and recurrent implantation failure (RIF; when implantation is not achieved after at least three cycles of IVF) are two of the major challenges that reproductive medicine faces. Some polymorphisms have been identified as possible causes of an increased risk of these diseases. This paper studies the prevalence of the polymorphisms in , , -, - and in RIF and RPL patients that determines the risk for these pathologies.
View Article and Find Full Text PDFInt J Reprod Biomed
August 2018
Research and Clinical Center for Infertility, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Background: Tumor protein () is a tumor suppressor transcriptional regulator protein which plays a critical role in the spermatogenesis. One of the most important regulators of p53 is Murine double minute 2 (), which acts as a negative regulator of the p53 pathway. Based on the key role of p53 and in germ cell apoptosis, polymorphisms that cause a change in their function might affect germ cell apoptosis and the risk of male infertility.
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