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相关概念视频

RNA Splicing01:32

RNA Splicing

57.0K
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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Alternative RNA Splicing02:18

Alternative RNA Splicing

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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...
21.7K
Exon Recombination02:32

Exon Recombination

3.7K
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...
3.7K

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Updated: Sep 11, 2025

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells
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异常拼接在ALS/FTD中对C9orf72重复扩张进行异常.

Suzhou Yang1,2, Denethi Wijegunawardana1,2, Udit Sheth3,4

  • 1Department of Neuroscience, Yale University School of Medicine, New Haven, CT, USA.

Nature neuroscience
|August 12, 2025
PubMed
概括

在C9orf72基因的常见基因突变导致ALS和FTD通过产生有毒蛋白质. 异常拼接保留了RNA中的重复,使有毒蛋白质产生,提供了新的治疗点.

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科学领域:

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

背景情况:

  • 在C9orf72基因中的GGGGCC核酸重复扩张 (NRE) 是肌缩侧面硬化症 (ALS) 和前性痴呆症 (FTD) 的主要原因.
  • 内部NREs导致细胞质中有毒二重复 (DPR) 蛋白质生成的机制尚未完全理解.

研究的目的:

  • 阐明C9 NRERNA局部化和DPR蛋白生产的机制.
  • 为了确定C9-ALS/FTD的潜在治疗点.

主要方法:

  • 使用NRE捕获-seq分析患者衍生的纤维细胞和神经元中含有NRE的RNA.
  • 研究了替代拼接和拼接因子在C9 NRE RNA生物发生中的作用.
  • 评估了反感性寡核酸 (ASO) 在降低DPR水平方面的有效性.

主要成果:

  • 与以前的模型相反,C9 NRE通过使用替代的5'拼接点在扩展的外带1内保持.
  • 在C9-ALS/FTD大脑中积聚异常拼接异型,并由SRSF1.1促进.
  • 用ASO准SRSF1或异常C9拼接异型,有效降低了DPR蛋白水平.

结论:

  • 异常拼接在致病性C9 NRE含有RNAs的生物发生中发挥着关键作用.
  • 准异常拼接和SRSF1为C9-ALS/FTD提供了一个有前途的治疗策略.