在多细胞性,人体健康和疾病中探索保存的上下文依赖的cis-regulatory元素 (cdCREs) 的作用
Andrew McEwan1, Alexander Rattray1, Greg Hutchings1
1Institute of Medical Sciences, Foresterhill, University of Aberdeen, UK.
The FEBS journal
|July 4, 2025
概括
情境依赖的 cis 调节元件 (cdCREs) 对于发育和健康中的基因调节至关重要. 了解它们在脊椎动物中的保存功能对于破译与疾病相关的非编码DNA变异至关重要.
科学领域:
- 基因组学就是基因组学.
- 发展生物学 发展生物学
- 表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.
背景情况:
- 人类的发展和健康依赖于精确的基因表达,由上下文依赖的cis-regulatory元素 (cdCREs) 控制.
- 包括增强剂和促进剂在内的cdCREs构成了基因组的重要部分,对复杂的多细胞性至关重要.
- 在脊椎动物中保存的cdCREs突出显示了共享的生物机制,并提供了对进化和疾病的见解.
研究的目的:
- 批判性地评估确定cdCREs的方法.
- 重新评估比较基因组学在cdCRE发现中的作用.
- 使用体内模型探索 cdCRE 在疾病相关的生理和行为中的功能.
主要方法:
- 审查目前用于cdCRE识别的方法.
- 对cdCREs进行比较基因组学方法的分析.
- 使用CRISPR生成的小鼠模型进行体内功能研究.
- 研究表观遗传机制,如DNA甲基化,对cdCRE活动的研究.
主要成果:
- 保存的脊椎动物cdCREs在发育和健康方面发挥着至关重要的作用.
- 比较基因组学是识别功能cdCREs的一个有价值的工具.
- 表观遗传修饰显著影响cdCRE活性和疾病易感性.
结论:
- 了解保存的脊椎动物cdCREs对于解释与疾病相关的非编码遗传变异至关重要.
- 整合遗传和表观遗传分析对于全面了解疾病病因至关重要.
- 由于其对人类健康和疾病的影响,对cdCREs在体内进行进一步的研究是紧迫的.
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