ArticleHuman genomics2012
Identification of functional DNA variants in the constitutive promoter region of MDM2.
Article in Human genomics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 3 of them syntheses that pooled it.
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Who cites it
15 citing papers in PubMed, 3 syntheses or guidelines pooled it, 19 citations in OpenAlex.
- A case-control study on the SNP309T → G and 40-bp Del1518 of the MDM2 gene and a systematic review for MDM2 polymorphisms in the patients with breast cancer.Journal of clinical laboratory analysis · 2020Pooled it
- Correlations between MDM2 gene SNP309 polymorphism and susceptibility to leukemia.Medical science monitor : international medical journal of experimental and clinical research · 2015Pooled it
- MDM2 SNP309 is an ethnicity-dependent risk factor for digestive tract cancers.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Pooled it
- Genetic Polymorphism of MDM2 Gene Associates with Breast Cancer Incidence in the Lower Northern Thailand.Asian Pacific journal of cancer prevention : APJCP · 2025Article
- Association of Insertion/Deletion Polymorphisms of MDM2, MCP-1 and VEGF with Esophageal Cancer Risk in North-West Indians: A Case - Control Study.Asian Pacific journal of cancer prevention : APJCP · 2025Article
- Article
- Associations ofJournal of clinical medicine · 2021Article
- The 40bp Indel Polymorphism rs150550023 in theCancers · 2020Article
- The 40bp indel polymorphism ofMolecular biology research communications · 2019Article
- Low dose arsenite confers resistance to UV induced apoptosis via p53-MDM2 pathway in ketatinocytes.Oncogenesis · 2017Article
- The MDM2 promoter T309G polymorphism was associated with preeclampsia susceptibility.Journal of assisted reproduction and genetics · 2017Article
- MDM2 promoter polymorphism del1518 (rs3730485) and its impact on endometrial and ovarian cancer risk.BMC cancer · 2017Article
- Article
- Associations between the MDM2 promoter P1 polymorphism del1518 (rs3730485) and incidence of cancer of the breast, lung, colon and prostate.Oncotarget · 2016Article
- Polymorphisms of p53 and MDM2 genes are associated with severe toxicities in patients with non-small cell lung cancer.Cancer biology & therapy · 2014Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Although mutations in the oncoprotein murine double minute 2 (MDM2) are rare, MDM2 gene overexpression has been observed in several human tumors. Given that even modest changes in MDM2 levels might influence the p53 tumor suppressor signaling pathway, we postulated that sequence variation in the promoter region of MDM2 could lead to disregulated expression and variation in gene dosage. Two promoters have been reported for MDM2; an internal promoter (P2), which is located near the end of intron 1 and is p53-responsive, and an upstream constitutive promoter (P1), which is p53-independent. Both promoter regions contain DNA variants that could influence the expression levels of MDM2, including the well-studied single nucleotide polymorphism (SNP) SNP309, which is located in the promoter P2; i.e., upstream of exon 2. In this report, we screened the promoter P1 for DNA variants and assessed the functional impact of the corresponding SNPs. Using the dbSNP database and genotyping validation in individuals of European descent, we identified three common SNPs (-1494 G > A; indel 40 bp; and -182 C > G). Three major promoter haplotypes were inferred by using these three promoter SNPs together with rs2279744 (SNP309). Following subcloning into a gene reporter system, we found that two of the haplotypes significantly influenced MDM2 promoter activity in a haplotype-specific manner. Site-directed mutagenesis experiments indicated that the 40 bp insertion/deletion variation is causing the observed allelic promoter activity. This study suggests that part of the variability in the MDM2 expression levels could be explained by allelic p53-independent P1 promoter activity.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.