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Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq
Published on: April 19, 2013
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rs2736098, a synonymous polymorphism, is associated with carcinogenesis and cell count in multiple tissue types by
Xin-Xin Zhang1, Xin-Yi Yu1, Shuang-Jia Xu1
1College of Life Sciences, Shaanxi Normal University, Xi'an, Shaanxi, 710119, PR China.
Heliyon
|March 18, 2024
Summary
The rs2736098 polymorphism in the TERT gene, previously thought to be inactive, acts as an oncogenic enhancer. This variant significantly influences TERT expression and is linked to increased cancer risk and cell proliferation.
Area of Science:
- Genetics
- Cancer Biology
- Molecular Oncology
Background:
- The TERT gene encodes telomerase reverse transcriptase, crucial for tumor development.
- rs2736098, a synonymous polymorphism in TERT, shows higher mutation frequency than expected.
- Histone modifications (H3K4me1, H3K27Ac) suggest rs2736098 is in an active enhancer region.
Purpose of the Study:
- To investigate if rs2736098 regulates TERT expression and influences cancer risk.
- To determine the functional role of rs2736098 in carcinogenesis.
Main Methods:
- Luciferase assays to assess enhancer activity of TERT alleles.
- Plasmid transfections to measure TERT expression levels.
- Chromatin immunoprecipitation to identify interacting proteins, including USF1.
Main Results:
- The rs2736098C allele exhibits significantly higher enhancer activity than the T allele across multiple tissues.
- The C allele leads to significantly higher TERT expression compared to the T allele.
- rs2736098 demonstrates differential binding affinity with nuclear proteins and interacts with USF1.
- rs2736098 is associated with carcinogenesis in various tissues and cell types.
Conclusions:
- rs2736098 functions as an oncogenic polymorphism by enhancing TERT expression.
- This polymorphism plays a significant role in cell proliferation and cancer development.
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