Jove
Visualize
联系我们
JoVE
x logofacebook logolinkedin logoyoutube logo
关于 JoVE
概览领导团队博客JoVE 帮助中心
作者
出版流程编辑委员会范围与政策同行评审常见问题投稿
图书馆员
用户评价订阅访问资源图书馆顾问委员会常见问题
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experiments存档
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教师资源中心教师网站
使用条款与条件
隐私政策
政策

相关概念视频

Long-patch Base Excision Repair01:02

Long-patch Base Excision Repair

6.9K
Since the discovery of the two BER pathways, there has been a debate about how a cell chooses one pathway over the other and the factors determining this selection. Numerous in vitro experiments have pointed out multiple determinants for the sub-pathway selection. These are:
6.9K
RNA Splicing01:32

RNA Splicing

55.8K
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...
55.8K
Base-pairing and DNA Repair02:27

Base-pairing and DNA Repair

64.5K
64.5K
Base Excision Repair01:54

Base Excision Repair

21.8K
One of the common DNA damages is the chemical alteration of single bases by alkylation, oxidation, or deamination. The altered bases cause mispairing and strand breakage during replication. This type of damage causes minimal change to the DNA double helix structure and can be repaired by the base excision repair (BER) pathways. BER corrects damaged DNA sequences by removing the damaged base and restoring the original base sequence using the complementary strand as a template.
The first step of...
21.8K
Nucleotide Excision Repair01:38

Nucleotide Excision Repair

3.4K
DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
3.4K
Mismatch Repair01:20

Mismatch Repair

4.7K
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
4.7K

您也可能阅读

相关文章

通过共同作者、期刊和引用图与本文相关的文章。

排序
Same author

Enhancer RNAs: similarities with both lncRNAs and mRNAs reveal novel functions.

RNA biology·2026
Same author

Programmable artificial RNA condensates in mammalian cells.

Nature nanotechnology·2026
Same author

The tumour suppressor RBM5 activates the helicase DHX15 to regulate splicing.

Research square·2026
Same author

The tumour suppressor RBM5 activates the helicase DHX15 to regulate splicing.

bioRxiv : the preprint server for biology·2026
Same author

The long noncoding RNA <i>Malat1</i> contains an internal ribosome entry site mediating micropeptide translation.

bioRxiv : the preprint server for biology·2026
Same author

Programmable artificial RNA condensates in mammalian cells.

bioRxiv : the preprint server for biology·2026

相关实验视频

Updated: May 20, 2025

ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast
07:31

ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast

Published on: June 30, 2022

2.4K

与癌症相关的SF3B1突变K700E导致U2/分支点识别的广泛变化,而不会改变拼接.

Andrey Damianov1, Chia-Ho Lin1, Jian Zhang2

  • 1Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, CA 90095.

Proceedings of the National Academy of Sciences of the United States of America
|March 26, 2025
PubMed
概括

SF3B1突变在骨髓分裂综合征中很常见,会破坏结合体的功能. 这项研究表明,K700E突变导致不精确的分支部位识别,扩大了对其致癌作用的理解.

关键词:
在U2 snRNP中使用.内部分支点 内部分支点骨髓分裂性综合征是什么?在mRNA前拼接.

更多相关视频

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
08:53

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

Published on: September 15, 2021

2.6K
Exploring Sequence Space to Identify Binding Sites for Regulatory RNA-Binding Proteins
11:34

Exploring Sequence Space to Identify Binding Sites for Regulatory RNA-Binding Proteins

Published on: August 9, 2019

6.6K

相关实验视频

Last Updated: May 20, 2025

ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast
07:31

ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast

Published on: June 30, 2022

2.4K
A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
08:53

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

Published on: September 15, 2021

2.6K
Exploring Sequence Space to Identify Binding Sites for Regulatory RNA-Binding Proteins
11:34

Exploring Sequence Space to Identify Binding Sites for Regulatory RNA-Binding Proteins

Published on: August 9, 2019

6.6K

科学领域:

  • 分子生物学分子生物学
  • 遗传学 是一个遗传学.
  • 癌症研究 癌症研究

背景情况:

  • 在U2 snRNP蛋白SF3B1中发生的突变经常在骨髓质疏松症候群和其他癌症中观察到.
  • 特定突变,如K700E,破坏蛋白质相互作用,导致异常的替代3'拼接位激活,可能是由于拼接体对分支部位的识别发生了变化.

研究的目的:

  • 调查SF3B1 K700E突变对跨转录组的分支部位 (BS) 识别的影响.
  • 为了确定与异常的替代3'拼接位 (ss) 选择相关的BS结合的变化.

主要方法:

  • 使用U2免疫沉测序 (IP-seq) 来分析分支部位结合.
  • 分析了携带SF3B1 K700E突变的K562白血病细胞.

主要成果:

  • 确定了与K700E突变激活的替代3'拼接位相关的转移分支部位.
  • 在突变细胞中发现了成千上万的额外变化,这些变化不会改变结合.
  • 观察到这些新型分支部位与自然部位相近,并具有增强的U2 snRNA基配对潜力或更强的多胺基管道.

结论:

  • SF3B1 K700E突变导致分支站点识别中的广泛不准确性.
  • 在分支部位识别中的这种不精确性,在3'拼接部位选择中的有限变化,扩大了这种致癌突变的已知的生理后果.