相关实验视频

Updated: Jun 6, 2025

Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay

Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay

Published on: August 26, 2018

在PMS2基因的合分析:探索PMS2相关的林奇综合征中的替代分子机制

Cătălin Vasile Munteanu^1,2, Cătălin Marian^3,4,5, Adela Chiriță-Emandi^6,7,8

¹Doctoral School, Victor Babeș University of Medicine and Pharmacy, 2 Eftimie Murgu Square Street, Timișoara, 300041, Romania. catalin.munteanu@umft.ro.

BMC genomic data

|November 26, 2024

概括

这项研究通过使用生物信息学工具分析PMS2基因变异来增强林奇综合征诊断. 它识别了PMS2中的潜在拼接变化,改善了遗传癌症风险评估的遗传变异检测.

科学领域:

遗传学遗传学是一个
生物信息学是一种生物信息学.
在瘤学瘤学.

背景情况:

林奇综合征 (LS) 是一种常见的遗传性癌症综合征,与不匹配修复基因中的生殖系变异有关.
下一代测序改善了变体检测,但许多具有LS标准的患者的结果是不确定的或负面的.
在LS中,PMS2变异的诊断不足,可能是由于变异解释方面的挑战,特别是错误和内在变异.

研究的目的:

通过专注于PMS2误解和内在变异来提高林奇综合征的诊断产量.
用生物信息学工具计算评估PMS2变异对拼接的影响.
确定PMS2中可能导致林奇综合征的新型拼接变化.

主要方法:

使用拼接生物信息学工具对野生类型和PMS2变体的DNA序列进行in silico分析.
使用SpliceAI和SpliceAI视觉预测拼接变体,并结合GTEx RNA表达数据.
评估正规拼接部位和外显拼接增强器 (ESE) 和静音器 (ESS) 在PMS中的作用2.

主要成果:

在2384个错误的PMS2变体中,90%被归类为不确定的意义 (VUS) 的变体.
4.9%的误解变体和4个内在变体显示出潜在的拼接后果.
特定的外基子 (例如5,11,14) 和基因 (ESEs,ESSs) 被确定为PMS2拼接调节的关键.

结论:

对PMS2变体的计算分析可以识别潜在的拼接缺陷,帮助诊断林奇综合征.
该研究强调了低估PMS2在LS中的作用,并为变异解释提供了一个框架.
需要进一步的功能研究来验证预测的剪接变化及其临床意义.

关键词:

另一个替代拼接.在Exon跳过的情况下,Exon跳过.林奇综合征是什么? 林奇综合征是什么?不匹配修复基因 PMS2 的基因.通过RNA拼接进行RNA拼接.拼接突变的突变发生了.拼接监管要素拼接的监管要素

更多相关视频

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models

Published on: December 9, 2016

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells

Published on: April 26, 2017

相关概念视频

RNA Splicing

RNA Splicing

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...

Alternative RNA Splicing

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...

Abnormal Proliferation

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...