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関連する概念動画

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...

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関連する実験動画

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

モーター回路の機能に不可欠なSMN依存のU12スプライシングイベント.

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
まとめ

脊髄筋縮 (SMA) は,生存運動ニューロン (SMN) のタンパク質欠乏に関連した運動ニューロン疾患です. この研究では,SMN欠乏がU12のスプライシングを妨害し,運動回路の機能に影響を与え,スタシモンをSMAの病理学的要因として特定することを明らかにしています.

さらに関連する動画

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

関連する実験動画

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

科学分野:

  • 神経科学は神経科学である.
  • 分子生物学は分子生物学である.
  • 遺伝学 遺伝学とは

背景:

  • 脊髄筋縮 (SMA) は,衰弱させる運動ニューロン疾患である.
  • SMAは,生存モーターニューロン (SMN) タンパク質の欠乏から生じ,これはニューロンの機能に不可欠です.
  • SMAにおける選択性モーターニューロン機能障害の背後にある正確なメカニズムは,まだ完全に理解されていません.

研究 の 目的:

  • SMAにおけるモーター回路活動の調節におけるSMN依存のU12スプライシングイベントの役割を調査する.
  • モーターニューロン機能障害に寄与するSMN欠乏によって影響を受ける特定の遺伝子と経路を特定する.

主な方法:

  • 哺乳類の細胞とDrosophila melanogasterの幼虫モデルを使用して,SMN欠乏症を研究しました.
  • SMN欠乏がU12のイントロンを含む遺伝子スプライシングと発現に与える影響を分析した.
  • スタシモンなどの特定されたSMN標的遺伝子の機能を,モーター回路モデルで調査した.

主要な成果:

  • SMN欠乏症はU12のスプライシングを妨害し,U12のイントロンを含む特定の遺伝子の発現を低下させることが判明しました.
  • スタシモンは,モーター回路機能にとって重要なタンパク質であり,その発現はSMN欠乏によって減少している.
  • SMAモデル (ドロソフィラとゼブラフィッシュ) でスタシモンの発現を回復することで,モーター回路の欠陥が改善されました.

結論:

  • SMN欠乏症は,重要な神経細胞遺伝子のスプライシングを直接妨害し,モーター回路機能不全を引き起こす.
  • スタシモンのように,U12-intron遺伝子の欠陥のあるスプライシングは,SMAで観察される選択的病理に寄与します.
  • この研究は,SMN欠乏症,異常なスプライシング,およびSMAにおけるモーターニューロン疾患を結びつける分子枠組みを確立しています.