相关实验视频
Updated: Jul 1, 2025

10:25
Using the E1A Minigene Tool to Study mRNA Splicing Changes
Published on: April 22, 2021
4.9K
基因控制拼接对外因子包括和蛋白质结构的影响
Jonah Einson1,2, Mariia Minaeva3, Faiza Rafi2,4
1Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, United States of America.
PloS one
|March 13, 2024
概括
本研究目录使用在 (PSI) 得分中拼接的外形百分比拼接的定量特征位点 (sQTLs) 的拼接. 我们展示了sQTL变异如何影响蛋白质结构,提供了解释疾病遗传影响的新方法.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 生物信息学是一种生物信息学.
背景情况:
- 剪接定量特征位点 (sQTLs) 对于理解遗传变异对mRNA剪接的影响至关重要.
- 描述特定的拼接变化及其对蛋白质结构的下游影响仍然具有挑战性.
- 目前用于从RNA测序数据中量化拼接的现有方法存在局限性.
研究的目的:
- 用 (PSI) 得分作为定量表型拼接的前子百分比来对sQTL进行分类.
- 分析sQTLs的影响大小和方向及其下游拼接效应.
- 探索AlphaFold2在预测与sQTLs相关的蛋白质结构变化的使用.
主要方法:
- 使用拼接定量特征位置 (sQTL) 映射.
- 雇佣的exon百分比被拼接到 (PSI) 得分中来量化拼接事件.
- 应用AlphaFold2用于预测蛋白质结构的改变.
主要成果:
- 编目了sQTL变体,并根据剪接效应的大小,方向和外子对称性确定了选择性效应.
- 在sQTL变异中证明了选择性影响的证据.
- 成功预测了与sQTL重叠GWAS特征相关的蛋白质结构变化.
结论:
- 在 (PSI) 评分中拼接的exon百分比为sQTL分析提供了一个可解释的指标.
- sQTL变异效应表现出基于拼接特征的选择性.
- AlphaFold2可以成为解释对蛋白质结构和疾病的遗传影响的宝贵工具.
相关概念视频
Alternative RNA Splicing
21.1K
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...
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...
21.1K
RNA Splicing
56.3K
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...
56.3K
Chromatin Structure Regulates pre-mRNA Processing
7.0K
In eukaryotic cells, nascent mRNA transcripts need to undergo many post-transcriptional modifications to reach the cell cytoplasm and translate into functional proteins. For a long time, transcription and pre-mRNA processing were considered two independent events that occur sequentially in the cell. However, it has now been well established that transcription and pre-mRNA processing are two simultaneous processes that are precisely regulated inside the cell.
The chromatin structure, especially...
The chromatin structure, especially...
7.0K
Exon Recombination
3.6K
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon...
Exon shuffling follows “splice frame rules.” Each exon...
3.6K
What is Gene Expression?
8.5K
A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is comprised of nucleotides and proteins are comprised of amino acids, a mediator is required to convert the information encoded in DNA into proteins. This mediator is the messenger RNA (mRNA). mRNA copies the blueprint from DNA by a process called transcription. In eukaryotes, transcription occurs in the nucleus by complementary base-pairing with the DNA template. The mRNA is then...
8.5K
Pre-mRNA Processing: RNA Splicing
5.2K
5.2K

