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相关概念视频

Pre-mRNA Processing: RNA Splicing01:36

Pre-mRNA Processing: RNA Splicing

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RNA Splicing01:32

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
Alternative RNA Splicing02:18

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...
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Long-patch Base Excision Repair01:02

Long-patch Base Excision Repair

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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:
7.0K
Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

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The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
Usually, Upf3 binds to an Exon Junction Complex (EJC) at mRNA splice sites. If a ribosome fully translates the mRNA,...
10.6K
RNA Editing02:23

RNA Editing

9.0K
RNA editing is a post-transcriptional modification where a precursor mRNA (pre-mRNA) nucleotide sequence is changed by base insertion, deletion, or modification. The extent of RNA editing varies from a few hundred bases, in mitochondrial DNA of trypanosomes, to a just single base, in nuclear genes of mammals. Even a single base change in the pre-mRNA can convert a codon for one amino acid into the codon for another amino acid or a stop codon. This type of re-coding can significantly affect the...
9.0K

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相关实验视频

Updated: Jun 23, 2025

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
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A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

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拼接APP:一个交互式的Web服务器来预测由人类突变引起的拼接错误.

Ang-Chu Huang1,2, Jia-Ying Su1,3,4,5, Yu-Jen Hung1

  • 1Institute of Molecular Biology, Academia Sinica, No. 128, Sec. 2, Academia Road, Nangang District, Taipei City, 115014, Taiwan.

BMC genomics
|June 14, 2024
PubMed
概括
此摘要是机器生成的。

这项研究开发了一个新的工具,SpliceAPP,以准确评估内基遗传变异对拼接的影响. 在精准医学中,SpliceAPP有助于识别致病拼接突变.

关键词:
人类突变是人类的突变.拉索回归法 (Lasso Regression) 是一种回归法.通过RNA拼接进行RNA拼接.拼接变体预测的预测

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Using the E1A Minigene Tool to Study mRNA Splicing Changes
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Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models
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Using the E1A Minigene Tool to Study mRNA Splicing Changes
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Using the E1A Minigene Tool to Study mRNA Splicing Changes

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

  • 基因组学就是基因组学.
  • 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:

  • 拼接变体是显著的病原性突变,严重程度与无意义突变相当.
  • 评估内部序列变异,特别是在分支站点,是由于退化的拼接信号具有挑战性的.

研究的目的:

  • 开发一种高通量方法来评估疾病相关的内基变异对拼接的功能影响.
  • 通过统计建模来确定影响拼接决策的关键因素及其权重.

主要方法:

  • 建立了一个大规模并行拼接试验,以评估11,191个与疾病相关的变异.
  • 应用了基于回归的方法来分析拼接结果并确定决定性因素.

主要成果:

  • 开发了一种敏感的统计模型,可以准确地注释外子附近的内部变体中的拼接缺陷,超过现有工具的性能.
  • 将算法和分支点数据集成到SpliceAPP中,这是一个用于预测拼接错误得分和评估变体影响的网络工具.

结论:

  • "SpliceAPP"为查致病性内在变异提供了一种新的方法,进步了精准医学.
  • 该工具可方便对拼接图案进行注释,并且可以随着可下载源代码免费访问.