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相关概念视频

RNA Splicing01:32

RNA Splicing

56.4K
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...
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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
Alternative RNA Splicing02:18

Alternative RNA Splicing

21.2K
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...
21.2K
Chromatin Structure Regulates pre-mRNA Processing02:41

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...
7.0K
MicroRNAs01:22

MicroRNAs

3.0K
MicroRNA (miRNA) are short, regulatory RNA transcribed from introns (non-coding regions of a gene) or intergenic regions (stretches of DNA present between genes). Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself, forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After the pre-miRNA...
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Mutations01:39

Mutations

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Overview
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相关实验视频

Updated: Jul 4, 2025

Merging Absolute and Relative Quantitative PCR Data to Quantify STAT3 Splice Variant Transcripts
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Merging Absolute and Relative Quantitative PCR Data to Quantify STAT3 Splice Variant Transcripts

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MATR3的致病变体差异性地损害了其神秘拼接抑制功能.

Mashiat Khan1,2, Xiao Xiao Lily Chen1,2, Michelle Dias3,4

  • 1Department of Molecular Genetics, University of Toronto, Canada.

FEBS letters
|February 6, 2024
PubMed
概括
此摘要是机器生成的。

马特林-3 (MATR3) 蛋白质损失会导致基因中的神秘拼接错误. 与疾病相关的MATR3变异会损害其功能,影响神经退行性和神经发育性疾病机制.

关键词:
这就是 MATR3R3 的意义.这是一种RNA结合蛋白质.骨髓缩侧面硬化症 (ALS) 是一种一个神秘的拼接.神经发育疾病是神经发育疾病.

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

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

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Merging Absolute and Relative Quantitative PCR Data to Quantify STAT3 Splice Variant Transcripts
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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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ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast
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科学领域:

  • 分子生物学分子生物学
  • 遗传学 是一个遗传学.
  • 神经科学是一个神经科学.

背景情况:

  • 马特林-3 (MATR3) 是一种与神经退行性和神经发育性疾病相关的RNA结合蛋白.
  • MATR3在功能基因中的密码拼接中的作用以及疾病变异的影响在很大程度上是未知的.

研究的目的:

  • 调查MATR3在调节功能基因中的神秘拼接中的功能.
  • 确定与疾病相关的MATR3变异如何影响其RNA结合,溶解性和拼接抑制活动.

主要方法:

  • 在MATR3损失时加密的外子纳入的分析.
  • 对野生类型和变种MATR3蛋白质的RNA结合和溶解度的评估.
  • 评估变体对MATR3神秘拼接抑制功能的影响.

主要成果:

  • 失去MATR3会导致各种转录中广泛的加密外型子纳入.
  • 与ALS相关的S85C变种降低了MATR3的溶解性,但保留了RNA结合.
  • 一种新的神经发育性疾病变体M548T,损害了MATR3溶解性,RNA结合和神秘拼接抑制.

结论:

  • 在功能性基因中,MATR3在抑制神秘拼接事件方面发挥着关键作用.
  • 与疾病相关的MATR3变体可以通过改变溶解度和RNA结合来破坏其功能,从而导致疾病的发病.