相关实验视频
Updated: Feb 5, 2026

07:34
A Method to Study de novo Formation of Chromatin Domains
Published on: August 23, 2019
5.8K
与疾病相关的短串重复与染色体域边界同定位
James H Sun1, Linda Zhou2, Daniel J Emerson3
1Department of Bioengineering, University of Pennsylvania, Philadelphia, PA 19104, USA; Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Cell
|September 4, 2018
概括
与疾病相关的短串重复 (STR) 在3D染色体域边界发现. 这些位置,特别是高CpG密度的位置,可能是理解像脆弱X综合征这样的重复扩张障碍的关键.
科学领域:
- 遗传学
- 表观遗传学
- 基因组架构
背景情况:
- 超过25种人类遗传疾病源于短串重复 (STR) 的不稳定扩展.
- 一个关键的问题是为什么特定的STR会经历病态扩张,而大多数则保持稳定.
- STRs的基因组位置和监管环境是它们稳定的关键因素.
研究的目的:
- 研究与疾病相关的STR (daSTR) 相关的基因组和拓特征.
- 探索染色体结构与STR不稳定的关系.
- 确定导致STR扩张障碍的潜在机制.
主要方法:
- 与3D染色体域边界相对的STR位置的分析.
- 在这些边界的CpG岛密度的评估.
- 在脆弱X综合征模型中研究CTCF占用和基因沉默.
主要成果:
- 几乎所有的daSTR都位于3D染色体域的边界.
- 在超高密度CpG岛屿边界上特别丰富daSTR.
- 脆弱X综合征显示边界破坏,CTCF损失和FMR1沉默,与daSTR相关.
结论:
- 高阶染色体结构在STR扩张障碍中起着重要作用.
- 超高密度CpG岛屿边界是表观遗传错调导致STR不稳定的潜在热点.
- 了解染色体组织为重复扩张疾病的发病提供了新的见解.
相关概念视频
Spreading of Chromatin Modifications
9.5K
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...
9.5K
Inheritance of Chromatin Structures
7.6K
Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying...
7.6K
Conservation of Protein Domains Over Different Proteins
14.6K
Protein domains are small structurally independent units that are part of a single amino acid chain. Although these domains are often structurally independent, they may rely on synergistic effects to perform their functions as part of a larger protein. Protein domains may be conserved within the same organism, as well as across different organisms.
A limited set of protein domains often duplicate and recombine during evolution. These domains can be organized in different combinations to...
A limited set of protein domains often duplicate and recombine during evolution. These domains can be organized in different combinations to...
14.6K
Chromatin Packaging
22.2K
Each human somatic cell contains 6 billion base-pairs of DNA. Each base-pair is 0.34 nm long, which means that each diploid cell contains a staggering 2 meters of DNA. How is such a long DNA strand packed inside a nucleus measuring only 10 - 20 microns in diameter?
The chromatin
In combination with specialized DNA binding protein called Histones, the DNA double helix forms a compact DNA: protein complex called chromatin. The chromatin itself is further compacted into higher-order...
The chromatin
In combination with specialized DNA binding protein called Histones, the DNA double helix forms a compact DNA: protein complex called chromatin. The chromatin itself is further compacted into higher-order...
22.2K
Chromatin Position Affects Gene Expression
24.9K
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...
Topologically Associated Domains (TADs)
The 3-dimensional positioning of chromatin in the nucleus influences the...
24.9K
Areas Within Irregular Boundaries
385
Calculating areas within irregular boundaries, such as along rivers or curved roads, is crucial in various fields, including surveying, engineering, and environmental management. Surveyors often begin by creating a traverse, a connected series of straight lines approximating the area's boundary. The coordinates of each traverse point are essential for calculating the enclosed area. The double meridian distance formula is a widely used technique for this purpose. This method utilizes the...
385

