由于常见和罕见的rRNA序列变异引起的核糖体异质性会影响各种人类表型
Daphna Rothschild1,2,3, Anil Raj4,2, Jordan Brown4
1Department of Genetics, Stanford University, Stanford, CA 94305, USA.
medRxiv : the preprint server for health sciences
|September 15, 2025
概括
核糖体RNA (rRNA) 变异影响人类健康,常见变异会产生影响生理学的核糖体亚型和与疾病相关的罕见突变. 这项研究揭示了rRNA扩展细分 (ESs) 的功能重要性.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 人体生理学 人体生理学
背景情况:
- 核糖体RNA (rRNA) 基因具有很高的变异性,在人类健康和疾病中的作用尚不清楚.
- 扩展细分 (ESs) 是对核糖体功能至关重要的rRNA区域,人们对其了解甚少.
研究的目的:
- 研究rRNA变异对人类生理学和疾病的影响.
- 分析英国生物库人口中的rRNA变异.
主要方法:
- 开发了核糖体变异分析 (RiboVAn) 方法.
- 对rRNA变异的分析,包括常见变异和罕见突变.
- 对已识别的rRNA变异进行遗传性和负担分析.
主要成果:
- 常见的rRNA变异定义了影响人类生理学的遗传性"核糖体亚型".
- 罕见的rRNA突变与各种疾病有关,包括癌症和心肌梗塞.
- 在ES中特定的rRNA变异 (es15l,es39l,es27l) 与脂肪,身体尺寸和血液疾病等特征相关.
结论:
- rRNA变异与人类特征和疾病有因果关系.
- 扩展细分 (ESs) 在人类生理学中具有独特而重要的作用.
- 核糖体亚型是可遗传的,而rRNA突变的遗传性较低.
相关概念视频
Ribosomal RNA Synthesis
14.7K
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,...
14.7K
Ribosomal RNA Synthesis
4.2K
4.2K
Translation
17.5K
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
Translation Produces the Building Blocks of Life
Proteins are...
17.5K
Translation
155.5K
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
155.5K
Ribosome Profiling
4.1K
Ribosome profiling or ribo-sequencing is a deep sequencing technique that produces a snapshot of active translation in a cell. It selectively sequences the mRNAs protected by ribosomes to get an insight into a cell’s translation landscape at any given point in time.
Applications of ribosome profiling
Ribosome profiling has many applications, including in vivo monitoring of translation inside a particular organ or tissue type and quantifying new protein synthesis levels.
The technique...
Applications of ribosome profiling
Ribosome profiling has many applications, including in vivo monitoring of translation inside a particular organ or tissue type and quantifying new protein synthesis levels.
The technique...
4.1K
RNA Splicing
60.4K
Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
60.4K


