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

RNA Splicing01:32

RNA Splicing

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...
RNA Splicing01:32

RNA Splicing

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...
Alternative RNA Splicing02:18

Alternative RNA Splicing

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...
Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

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,...
The Neuromuscular Junction01:19

The Neuromuscular Junction

The nervous system consists of complex motor neuron circuits, including upper motor neurons originating from the cerebral cortex and lower motor neurons starting in the spinal cord, coordinating both voluntary and involuntary movements. Among these, somatic motor neurons activate skeletal muscles and are classified into alpha, beta, and gamma types. Alpha neurons are vital for voluntary movement coordination, while gamma neurons adjust muscle spindle sensitivity, and the function of beta...
Pre-mRNA Processing: RNA Splicing01:32

Pre-mRNA Processing: RNA Splicing

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...

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

Highly frequent undesired insertional mutagenesis during Drosophila genome editing.

PLoS genetics·2026
Same author

A p53-ΔNp73 signaling axis drives selective motor neuron degeneration in spinal muscular atrophy.

bioRxiv : the preprint server for biology·2026
Same author

Management of gynecomastia in adolescence and adults: the clinical practice guidelines from the Italian Society of Andrology and Sexual Medicine (SIAMS).

Journal of endocrinological investigation·2026
Same author

Spinal cord imaging for multiple sclerosis: Advances, priorities, and opportunities.

Multiple sclerosis (Houndmills, Basingstoke, England)·2026
Same author

A comparative study of deep learning for cortical lesion MRI segmentation with explainability analysis in multiple sclerosis.

NeuroImage. Clinical·2026
Same author

Cortical Lesions Form Predominantly in Early Multiple Sclerosis.

medRxiv : the preprint server for health sciences·2026

相关实验视频

Updated: May 17, 2026

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

一个依赖于SMN的U12拼接事件,对于电机电路功能至关重要.

Francesco Lotti1, Wendy L Imlach, Luciano Saieva

  • 1Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA.

Cell
|October 16, 2012
PubMed
概括

脊髓肌肉缩 (SMA) 是一种运动神经元疾病,与生存运动神经元 (SMN) 蛋白质缺乏有关. 这项研究揭示了SMN缺乏破坏U12拼接,影响运动电路功能,并确定斯塔西蒙是SMA病理学的关键因素.

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

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
07:02

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

相关实验视频

Last Updated: May 17, 2026

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

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

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
07:02

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

科学领域:

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

背景情况:

  • 脊椎肌肉缩 (SMA) 是一种衰弱的运动神经元疾病.
  • SMA源于生存运动神经元 (SMN) 蛋白质的缺乏,这对神经元功能至关重要.
  • 在SMA中选择性运动神经元功能障碍背后的精确机制仍然不完全理解.

研究的目的:

  • 研究SMN依赖的U12拼接事件在SMA中调节运动电路活动中的作用.
  • 确定受SMN缺乏影响的特定基因和通路,这些基因和通路有助于运动神经元功能障碍.

主要方法:

  • 利用哺乳动物细胞和Drosophila melanogaster幼虫模型来研究SMN缺乏症.
  • 分析了SMN缺乏对U12内突含基因拼接和表达的影响.
  • 在电机电路模型中研究了已识别的SMN目标基因 (如Stasimon) 的功能.

主要成果:

  • 发现SMN缺陷会扰乱U12拼接,并降低特定U12内核含基因的表达.
  • 确定了斯塔西蒙作为运动电路功能的关键蛋白质,其表达因SMN缺乏而减少.
  • 在SMA模型 (Drosophila和斑马鱼) 中恢复斯塔西蒙表达改善了运动电路缺陷.

结论:

  • 缺少SMN直接影响关键神经元基因的拼接,导致运动电路功能障碍.
  • 像斯塔西蒙一样,U12-intron基因的缺陷拼接有助于在SMA中观察到的选择性病理.
  • 这项研究建立了一个分子框架,将SMN缺乏,异常拼接和SMA中的运动神经元疾病联系起来.