基于它们的基因间隔器 (IGS) 变异性的高度分歧的小鼠rDNA单元的比较分析和分类
Jung-Hyun Kim1, Ramaiah Nagaraja2, Alexey Y Ogurtsov3
1National Cancer Institute, Developmental Therapeutics Branch, Bethesda, MD, USA.
NAR genomics and bioinformatics
|June 17, 2024
概括
小鼠核糖体DNA (rDNA) 重复单元显示出显著的尺寸变化,主要是由于基因间隔器 (IGS). 这些变异与差异性rDNA单元调节相关,可能会影响核细胞形成和疾病.
科学领域:
- 基因组学就是基因组学.
- 分子生物学分子生物学
- 欧核生物基因调节 欧核生物基因调节
背景情况:
- 核糖体DNA (rDNA) 的重复单元在真核基因组中形成协奏组.
- 鼠标rDNA集群在重复拷贝数量中表现出显著的基因组间变异.
- 了解rDNA变异对于研究基因调节和细胞过程至关重要.
研究的目的:
- 分析小鼠rDNA重复中的基因内和基因间变异.
- 描述单个rDNA单元的结构和序列多样性.
- 调查rDNA变异的监管影响.
主要方法:
- 使用转化相关重组 (TAR) 克隆对25个小鼠rDNA单元进行选择性分离.
- 长读测序用于对rDNA单元结构的高分辨率分析.
- 进行比较序列分析以识别变体和结构差异.
主要成果:
- 鼠标rDNA单元表现出相当大的尺寸异质性 (∼3546 kb),由基因间隔器 (IGS) 长度变化驱动.
- 在转录区域内确定了209种变异,其中70种在外部转录间隔器 (ETS) 中.
- 包括indels和重复元素在内的IGS异质性与明显的rDNA单元集群,增强器数和促进器单核酸多态 (SNP) 相相关.
结论:
- 变异的rDNA单元受到差异调节,受IGS特征和促进SNP的影响.
- IGS特征与5'ETS变体和差异性rDNA单元表达相关.
- 这项研究为研究rDNA变异在核组织中的作用以及与病理学的潜在联系提供了一个框架.
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