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在九种人类细胞类型中绘制和分析染色质状态动态
Jason Ernst1, Pouya Kheradpour, Tarjei S Mikkelsen
1Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
Nature
|March 29, 2011
概括
这项研究将细胞类型中的染色质标记映射出来,以识别调节元素及其功能. 它将这些元素与基因调节和疾病关联联系起来,为理解 cis-regulatory 连接提供了一个框架.
科学领域:
- 基因组学和表观基因组学
- 分子生物学分子生物学
- 计算生物学是一种计算生物学.
背景情况:
- 染色体分析对基因组注释和识别调控活动至关重要.
- 非编码基因组区域对于细胞表型至关重要,但仍未得到充分研究.
- 了解细胞类型特定的调控元素对于破译基因功能和疾病至关重要.
研究的目的:
- 在多种细胞类型中系统地绘制染色质标记,以表征调控元素.
- 定义细胞类型特定的染色质状态,基因表达和调节剂丰富的活性概况.
- 建立一个框架来解读 cis-regulatory 连接及其在疾病中的作用.
主要方法:
- 在九种不同的细胞类型中绘制了九种染色素标记的映射.
- 对促进剂和增强剂的细胞类型特定模式的分析.
- 相关性分析将增强剂与向基因联系起来,并预测调节因素.
主要成果:
- 定义的多细胞活动概况,包括染色质状态,基因表达,基因丰富和调节表达.
- 成功将增强剂与假定的基因联系起来,并预测了细胞类型特定的激活剂和抑制剂.
- 证明与疾病相关的SNP通常位于细胞类型特定的活性增强剂内,可能影响调节器结合基因.
结论:
- 该研究提供了一个全面的框架,用于破译cis-regulatory网络.
- 这些发现对解释全基因组关联研究和理解疾病机制有重大影响.
- 这种方法有助于识别功能调节元素及其在细胞类型特异性基因调节和疾病中的作用.
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相关概念视频
Karyotyping
Overview
Fixation and Sectioning
Two basic types of preparation are used to visualize specimens with a light microscope: wet mounts and fixed specimens.
The simplest type of preparation is the wet mount, in which the specimen is placed in a drop of liquid on the slide. A liquid specimen can be directly deposited on the slide using a dropper. Solid specimens, such as skin scraping, can be placed on the slide before adding a drop of liquid to prepare the wet mount. Sometimes the liquid is simply water, but stains are often added...
The simplest type of preparation is the wet mount, in which the specimen is placed in a drop of liquid on the slide. A liquid specimen can be directly deposited on the slide using a dropper. Solid specimens, such as skin scraping, can be placed on the slide before adding a drop of liquid to prepare the wet mount. Sometimes the liquid is simply water, but stains are often added...