相关实验视频
Updated: Jun 11, 2025

07:50
Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
Published on: September 18, 2020
5.5K
在宫癌中TERT-CLPTM1L位点的甲基化,基因表达和风险基因型
Dhanya Ramachandran1, Qianqian Mao1, Dandan Liao1
1Gynaecology Research Unit, Hannover Medical School, Hannover, Germany.
Molecular carcinogenesis
|October 1, 2024
概括
端粒逆转录酶 (TERT) 促进剂甲基化与子宫癌风险变异有关. 接近TERT和CLPTM1L的遗传变异会影响基因表达,与HPV感染一起影响宫癌的发展.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- 端粒酶逆转录酶 (TERT) 在宫癌中经常被激活.
- TERT促进剂低甲基化是宫癌进展的潜在生物标志物.
- 已经确定了TERT-CLPTM1L附近的遗传风险变异,但它们在宫癌中的功能机制尚不清楚.
研究的目的:
- 研究TERT促进体和CLPTM1L中的特定CpG甲基化位点之间的关系,以及它们与已知的宫癌风险变体的关联.
- 确定这些遗传变异和甲基化模式如何影响子宫瘤中的TERT和CLPTM1L基因表达.
- 探索遗传背景,甲基化和HPV感染对子宫癌发展的综合影响.
主要方法:
- 分析了TERT推广区域内529个CpG地点和3个附近的CpG岛屿,以及CLPTM1L中的21个CpG地点.
- 从190个宫瘤样本 (BioRAIDs) 中进行二硫酸盐转化和DNA测序.
- 在瘤和独立组织样本中的甲基化状态,风险变异的基因型 (rs27070,rs459961) 和基因表达 (TERT,CLPTM1L) 之间的关联分析.
主要成果:
- 在TERT 2内中的8个CpG位点显示出与子宫瘤中rs27070和rs459961基因型的显著甲基化相关性.
- 在 chr5:1289663 的超甲基化与降低的 TERT mRNA 水平相关.
- 罕见的rs27070和rs459961等位基因与较低的CLPTM1L和缺席的HPV阴性组织中的TERT mRNA有关,这表明它具有保护作用. 感染HPV增加了CLPTM1L和TERT水平.
结论:
- 这项研究确定了宫癌风险变异,DNA甲基化和TERT和CLPTM1L的基因表达之间的联系.
- 基因组背景和HPV感染调节TERT和CLPTM1L,使它们与宫癌的发展有关.
- 了解这些分子相互作用,可以了解宫癌的病原和潜在的治疗点.
相关概念视频
Epigenetic Regulation
3.0K
Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
X-chromosome...
3.0K
Non-LTR Retrotransposons
11.4K
As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
11.4K
Mutagenicity and Carcinogenicity
1.2K
Mutagenicity and carcinogenicity refer to the ability of drugs to cause genetic defects and induce cancer, respectively. The International Agency for Research on Cancer (IARC) classifies agents into four groups based on their carcinogenic potential. Group 1 agents are known human carcinogens; group 2A agents are probably carcinogenic to humans; group 3 agents lack data to support their role in carcinogenesis; and group 4 includes agents for which data support that they are not likely to be...
1.2K
Abnormal Proliferation
4.5K
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
4.5K
Tumor Progression
6.2K
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
6.2K

