扩展候选 cis 调节元件注册表,用于研究转录调节
Jill E Moore1, Henry E Pratt1, Kaili Fan1
1Department of Genomics and Computational Biology, University of Massachusetts Chan Medical School, Worcester, MA, USA.
bioRxiv : the preprint server for biology
|January 7, 2025
概括
扩展的ENCODE注册表现在包括数以百万计的人类和小鼠的调节元素,提供了对基因调节的全面视图. 该资源有助于理解遗传变异,并识别与特征和疾病相关的基因.
科学领域:
- 基因组学就是基因组学.
- 表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.
- 分子生物学分子生物学
背景情况:
- 哺乳动物的基因组拥有数百万个控制基因表达的调节元素.
- 在此之前,ENCODE联盟已经列出了90万个人类和30万只老鼠候选的cis-regulatory元素 (cCREs).
研究的目的:
- 通过使用新的数据集和计算方法,扩展cCREs的ENCODE注册表.
- 为了解不同细胞和组织类型的基因调节提供全面的资源.
主要方法:
- 利用新的ENCODE数据集和增强的计算方法.
- 整合来自STARR-seq,MPRA,CRISPR扰动和转基因小鼠试验等试验的功能性特征化数据.
- 将扩展的注册表与其他ENCODE注释结合起来.
主要成果:
- 目前,该注册表包含了235万个人类和927,000个小鼠cCREs,涵盖了数百种细胞/组织类型.
- 功能数据涵盖了90%以上的人类cCREs,揭示了复杂的调节作用.
- 数以千计的新型声器cCREs被确定,其中一些具有双增强器/声器功能.
- 发现 *KLF1* 是一种用于红细胞特征的新型因果基因.
结论:
- 扩展的ENCODE注册表是研究调节基因组的重要资源.
- 该资源有助于解释遗传变异和识别特征相关基因.
- 这些发现推动了我们对基因调节对健康和疾病的影响的理解.
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