RNA聚合酶子单元和核糖体蛋白:概述及其对复杂人体特征的遗传影响
1School of Systems Biomedical Science and Integrative Institute of Basic Science, Soongsil University, 06978 Seoul, Republic of Korea.
Frontiers in bioscience (Landmark edition)
|May 30, 2024
概括
这项研究使用遗传数据将基因表达调节器,核糖体蛋白 (RP) 和RNA聚合酶 (RNAP) 与复杂的人类特征联系起来. 核糖体蛋白基因,特别是RPS26,与组织中的各种特征有很强的关联.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 分子生物学分子生物学
- 人类的复杂特征 人类的复杂特征
背景情况:
- 精确的基因表达对于细胞功能和适应至关重要.
- RNA聚合酶 (RNAP I,II,III) 和核糖体蛋白 (RP) 是蛋白质合成的关键.
- 了解它们的遗传变异,特别是表达定量特征位置 (eQTLs),对于复杂的人类特征至关重要.
研究的目的:
- 描述RNAP和RP基因的遗传特征.
- 通过eQTLs调查这些基因与复杂的人类特征的关联.
- 为了突出特定的基因,如RPS26,POLR1H,POLR2D和POLR3H,用于未来的研究.
主要方法:
- 编制了4007个全基因组关联研究 (GWAS) 信号-eQTL对.
- 对齐GWAS目录信号与eQTL跨多个组织的RNAP和RP基因.
- 分析了基因表达模式及其与16个实验因子本体学 (EFO) 家长术语的关联.
主要成果:
- 83.4%的确定的GWAS-eQTL对涉及核糖体蛋白质基因,其中RPS26是最常见的 (32.9%).
- 在所有分析的组织中,RP基因关联一致.
- RNAP III基因POLR3H显示了与神经系统疾病相关的脑特异性eQTL;RNAP I基因POLR1H (RPA12) 和RNAP II基因POLR2D (RPB4) 也显示了显著的关联.
结论:
- 核糖体蛋白基因,特别是RPS26,在复杂的人类特征的遗传结构中发挥着主导作用.
- 包括POLR3H,POLR1H和POLR2D在内的RNAP基因也对人类特征作出贡献,观察到组织特异性影响.
- 这项研究提供了RP和RNAP的遗传特征,强调了未来对遗传变异和复杂特征的调查的关键基因.
相关概念视频
Bacterial RNA Polymerase
29.4K
Unlike eukaryotes, bacteria use a single RNA Polymerase (RNAP) to transcribe all genes. The different subunits of bacterial RNAPhave distinct functions. The multisubunit structure of the bacterial RNAP helps the enzyme to maintain catalytic function, facilitate assembly, interact with DNA and RNA, and self-regulate its activity.
In most genes, the transcription site is a single base present upstream of the coding sequence. Though RNAP is a catalytically efficient enzyme, it does not recognize...
In most genes, the transcription site is a single base present upstream of the coding sequence. Though RNAP is a catalytically efficient enzyme, it does not recognize...
29.4K
Ribosomal RNA Synthesis
13.2K
Ribosome synthesis is a highly complex and coordinated process involving more than 200 assembly factors. The synthesis and processing of ribosomal components occurs not only in the nucleolus but also in the nucleoplasm and the cytoplasm of eukaryotic cells.
Ribosome biogenesis begins with the synthesis of 5S and 45S pre-rRNAs by distinct RNA polymerases. The primary transcripts are extensively processed and modified before they are bound and folded by ribosomal proteins and assembly factors,...
Ribosome biogenesis begins with the synthesis of 5S and 45S pre-rRNAs by distinct RNA polymerases. The primary transcripts are extensively processed and modified before they are bound and folded by ribosomal proteins and assembly factors,...
13.2K
Eukaryotic RNA Polymerases
24.1K
RNA Polymerase (RNAP) is conserved in all animals, with bacterial, archaeal, and eukaryotic RNAPs sharing significant sequence, structural, and functional similarities. Among the three eukaryotic RNAPs, RNA Polymerase II is most similar to bacterial RNAP in terms of both structural organization and folding topologies of the enzyme subunits. However, these similarities are not reflected in their mechanism of action.
All three eukaryotic RNAPs require specific transcription factors, of which the...
All three eukaryotic RNAPs require specific transcription factors, of which the...
24.1K
Transcription Initiation
16.4K
Initiation is the first step of transcription in eukaryotes. Prokaryotic RNA Polymerase (RNAP) can bind to the template DNA and start transcribing. On the other hand, transcription in eukaryotes requires additional proteins, called transcription factors, to first bind to the promoter region in the DNA template. This binding helps recruit the specific RNAP that can assemble on the DNA and start transcription.
The promoters and enhancers and their accessory proteins allow tight regulation of...
The promoters and enhancers and their accessory proteins allow tight regulation of...
16.4K
Bacterial Transcription
28.1K
RNA polymerase (RNAP) carries out DNA-dependent RNA synthesis in both bacteria and eukaryotes. Bacteria do not have a membrane-bound nucleus. So, transcription and translation occur simultaneously, on the same DNA template.
Transcription can be divided into three main stages, each involving distinct DNA sequences to guide the polymerase. These are:
Transcription can be divided into three main stages, each involving distinct DNA sequences to guide the polymerase. These are:
28.1K
Types of RNA
63.5K
Overview
Three main types of RNA are involved in protein synthesis: messenger RNA (mRNA), transfer RNA (tRNA), and ribosomal RNA (rRNA). These RNAs perform diverse functions and can be broadly classified as protein-coding or non-coding RNA. Non-coding RNAs play important roles in the regulation of gene expression in response to developmental and environmental changes. Non-coding RNAs in prokaryotes can be manipulated to develop more effective antibacterial drugs for human or animal use.
RNA...
Three main types of RNA are involved in protein synthesis: messenger RNA (mRNA), transfer RNA (tRNA), and ribosomal RNA (rRNA). These RNAs perform diverse functions and can be broadly classified as protein-coding or non-coding RNA. Non-coding RNAs play important roles in the regulation of gene expression in response to developmental and environmental changes. Non-coding RNAs in prokaryotes can be manipulated to develop more effective antibacterial drugs for human or animal use.
RNA...
63.5K


