门德尔的随机化提供了一个多奥米学观点,关于参与核糖体生物发生的基因与心脏结构和功能相关的调节
Shuxu Wei1,2, Ronghuai Shen1, Xiaojia Lu1
1Department of Cardiology, The First Affiliated Hospital of Shantou University Medical College, No.57, Changping Road, Shantou, 515041, China.
Clinical epigenetics
|March 5, 2025
概括
这项研究确定了15个与心脏风险相关的核糖体生物发生 (RiboSis) 基因. 其中12个基因得到了验证,突出显示了RiboSis的存在.
科学领域:
- 遗传学和分子生物学
- 心血管研究研究心血管研究
- 系统生物学 系统生物学
背景情况:
- 核糖体生物发生 (RiboSis) 对于蛋白质合成至关重要,但其功能障碍与心血管疾病有关.
- 了解RiboSis与心脏健康之间的遗传联系对于阐明疾病机制至关重要.
研究的目的:
- 通过多omics的门德尔随机化方法,研究与核糖体生物发生相关的基因与心脏结构和功能之间的关联.
- 识别可能导致心血管风险的特定RiboSis基因.
主要方法:
- 利用英国生物库心肺MRI遗传关联 (N=41,135) 与甲基化,RNA剪接和基因表达的总结统计数据.
- 采用孟德尔随机化 (MR) 来评估与心脏特征对比的RiboSis基因特征,并结合多特征协同定位 (HyPrColoc) 的假设优先级.
- 使用复合分数排名RiboSis基因和通过全现象关联研究 (PheWAS) 验证的发现.
主要成果:
- 确定了15个关键的核糖体生物发生相关基因,包括HEATR1和SENP3,它们的排名很高.
- 在一个单独的队列中,这些基因中的12个与心脏结构,功能或疾病的验证关联.
- 发现ERAL1,TSR1和NIP7在本分析中没有与心脏特征显著关联.
结论:
- 多组的MR分析成功确定了与心脏风险相关的15个核糖体生物发生基因.
- 进一步的验证证实了12个这些基因与心脏健康之间的联系,进步了对RiboSis在心血管疾病中的作用的理解.
- 这些发现为心脏病背后的机制提供了新的遗传见解.
相关概念视频
Ribosome Profiling
3.4K
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...
3.4K
Translation
14.4K
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...
14.4K
Pleiotropy
39.3K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
39.3K
Regulation of Expression at Multiple Steps
862
The gene expression in cells is regulated at different stages: (i) transcription, (ii) RNA processing, (iii) RNA localization, and (iv) translation. Transcriptional regulation is mediated by regulatory proteins such as transcription factors, activators, or repressors—these control gene expression by initiating or inhibiting the transcription of genes. Once a precursor or pre-mRNA is produced, it undergoes post-transcriptional modification, including 5' capping, splicing, and the...
862
mRNA Stability and Gene Expression
5.5K
The structure and stability of mRNA molecules regulates gene expression, as mRNAs are a key step in the pathway from gene to protein. In eukaryotes, the half-life of mRNA varies from a few minutes up to several days. mRNA stability is essential in growth and development. The absence of the proteins regulating its stability, such as tristetraprolin in mice, can cause systemic issues, including bone marrow overgrowth, inflammation, and autoimmunity.
Cis-acting Elements involved in mRNA stability
Cis-acting Elements involved in mRNA stability
5.5K
Riboswitches
8.0K
Riboswitches are non-coding mRNA domains that regulate the transcription and translation of downstream genes without the help of proteins. Riboswitches bind directly to a metabolite and can form unique stem-loop or hairpin structures in response to the amount of the metabolite present. They have two distinct regions – a metabolite-binding aptamer and an expression platform.
The aptamer has high specificity for a particular metabolite which allows riboswitches to specifically regulate...
The aptamer has high specificity for a particular metabolite which allows riboswitches to specifically regulate...
8.0K


