相关实验视频
Updated: Jun 20, 2026

08:12
A Web-Based Workflow for Selecting Gene- and Tissue-Specific Enhancers
Published on: July 18, 2025
远程作用增强剂的基因组视图
Axel Visel1, Edward M Rubin, Len A Pennacchio
1Genomics Division, MS 84-171, Lawrence Berkeley National Laboratory, Berkeley, California 94720, USA.
Nature
|September 11, 2009
概括
非编码DNA变异在人类疾病中的作用还未得到充分研究. 最近的研究强调了它们的重要性,但机制仍然不清楚,特别是在转录增强剂.
科学领域:
- 基因组学就是基因组学.
- 分子生物学分子生物学
- 人类遗传学 人类遗传学
背景情况:
- 与蛋白质编码序列相比,对人类疾病的非编码DNA变异的意义在很大程度上尚未被探索.
- 全基因组关联研究越来越多地将非编码变异确定为常见疾病的风险因素.
- 非编码变异对疾病病原发生的贡献的确切机制尚不清楚.
研究的目的:
- 探索非编码DNA变异在人类疾病中的作用.
- 研究转录增强剂在生物过程和疾病易感性中的功能.
- 利用全基因组的方法来发现和表征功能性非编码元素.
主要方法:
- 利用全基因组关联研究 (GWAS) 识别与疾病风险相关的非编码变异.
- 采用全基因组的方法来发现功能性非编码DNA元素.
- 应用功能性表征方法来了解非编码变化的影响.
主要成果:
- 非编码DNA变异被认为是人类常见疾病的重要风险因素.
- 远程作用转录增强剂是非编码DNA的关键类别,涉及到发育和疾病.
- 新兴的全基因组技术促进了对非编码DNA作用的系统研究.
结论:
- 非编码DNA变异在人类疾病中起着关键的,但被低估的作用.
- 转录增强剂是关键的功能元素,其变化可以影响疾病易感性.
- 基因组技术的进步使得对非编码DNA对人类健康和疾病的贡献进行了更深入的研究.
相关概念视频
Chromatin Position Affects Gene Expression
Chromatin is the massive complex of DNA and proteins packaged inside the nucleus. The complexity of chromatin folding and how it is packaged inside the nucleus greatly influences access to genetic information. Generally, the nucleus' periphery is considered transcriptionally repressive, while the cell's interior is considered a transcriptionally active area.
Topologically Associated Domains (TADs)
The 3-dimensional positioning of chromatin in the nucleus influences the timing and level of...
Topologically Associated Domains (TADs)
The 3-dimensional positioning of chromatin in the nucleus influences the timing and level of...
Co-activators and Co-repressors
Gene transcription is regulated by the synergistic action of several proteins that form a complex at a gene regulatory site. This is observed in eukaryotes, where the regulation of gene expression is a complex process. Regulatory proteins in eukaryotes can broadly be classified into two types – regulators that bind directly to specific DNA sequences and co-regulators that associate with regulatory proteins but cannot directly bind to the DNA. These co-regulators are further divided into...
Co-activators and Co-repressors
Gene transcription is regulated by the synergistic action of several proteins that form a complex at a gene regulatory site. This is observed in eukaryotes, where the regulation of gene expression is a complex process. Regulatory proteins in eukaryotes can broadly be classified into two types – regulators that bind directly to specific DNA sequences and co-regulators that associate with regulatory proteins but cannot directly bind to the DNA. These co-regulators are further divided into...
Epigenetic Regulation
Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
Epigenetic Regulation
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...
Epigenetic Regulation
Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.

