相关实验视频
Updated: May 23, 2025

08:40
Methyl-binding DNA capture Sequencing for Patient Tissues
Published on: October 31, 2016
8.6K
CHIP的全表观基因组DNA甲基化关联研究为扰乱基因调节提供了洞察力
Sara Kirmani1,2, Tianxiao Huan3,4, Joseph C Van Amburg5
1Framingham Heart Study, Framingham, MA, 01702, USA.
Nature communications
|May 20, 2025
概括
克隆性血液形成 (CHIP) 涉及到老化血液干细胞的突变. 我们的研究揭示了与CHIP相关的表观遗传变化,增加了心血管疾病和死亡风险.
科学领域:
- 遗传学 遗传学 是一个
- 表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.
- 衰老研究研究 衰老研究
背景情况:
- 衰老的造血干细胞可以获得体质突变,导致克隆造血 (CHIP).
- 人们对CHIP增加与年龄有关的疾病风险的机制尚不清楚.
- 人们越来越认识到CHIP是心血管疾病和血液恶性瘤的危险因素.
研究的目的:
- 为了研究CHIP的表观遗传基础.
- 阐明将CHIP与心血管疾病风险联系起来的分子机制.
- 确定与CHIP及其健康后果相关的特定表观遗传标记.
主要方法:
- 在四个队列 (N=8196) 中进行的全表观基因组协会研究 (EWAS) 的大型多种族元分析.
- 使用CHIP的人类造血干细胞模型进行功能验证.
- 表达量的特征甲基化 (eQTM) 分析,将甲基化变化与基因表达联系起来.
- 因果推断分析,以评估CHIP-CpG与心血管特征和死亡率的关联.
主要成果:
- 确定了261个与CHIP相关的CpG站点.
- 这些CpG位点与心血管特征和全因死亡率 (FDR <0.05) 有显著的关联.
- 在血液造血干细胞模型中,EWAS的发现得到了功能验证.
结论:
- CHIP与广泛的表观遗传改变有关.
- 这些表观遗传变化导致CHIP患者心血管疾病和死亡风险增加.
- 这项研究为将CHIP与与年龄有关的疾病联系在一起的分子途径提供了新的见解.
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
Genomic DNA in Eukaryotes
46.6K
Eukaryotes have large genomes compared to prokaryotes. To fit their genomes into a cell, eukaryotic DNA is packaged extraordinarily tightly inside the nucleus. To achieve this, DNA is tightly wound around proteins called histones, which are packaged into nucleosomes that are joined by linker DNA and coil into chromatin fibers. Additional fibrous proteins further compact the chromatin, which is recognizable as chromosomes during certain phases of cell division.
46.6K
Genomic Imprinting and Inheritance
33.1K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
33.1K
Histone Modification
12.9K
The histone proteins have a flexible N-terminal tail extending out from the nucleosome. These histone tails are often subjected to post-translational modifications such as acetylation, methylation, phosphorylation, and ubiquitination. Particular combinations of these modifications form “histone codes” that influence the chromatin folding and tissue-specific gene expression.
Acetylation
The enzyme histone acetyltransferase adds acetyl group to the histones. Another enzyme, histone...
Acetylation
The enzyme histone acetyltransferase adds acetyl group to the histones. Another enzyme, histone...
12.9K
Spreading of Chromatin Modifications
8.2K
The histone proteins in the nucleosomes are post-translationally modified (PTM) to increase or decrease access to DNA. The commonly observed PTMs are methylation, acetylation, phosphorylation, and ubiquitination of lysine amino acids in the histone H3 tail region. These histone modifications have specific meaning for the cell. Hence, they are called "histone code". The protein complex involved in histone modification is termed as "reader-writer" complex.
Writers
The writer...
Writers
The writer...
8.2K
Genome-wide Association Studies-GWAS
12.3K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
12.3K

