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相关概念视频

Mutations01:39

Mutations

Overview
Nuclear Export of mRNA02:31

Nuclear Export of mRNA

Before mRNAs are exported to the cytoplasm, it is crucial to check each mRNA for structural and functional integrity. Eukaryotic cells use several different mechanisms, collectively known as mRNA surveillance, to look for irregularities in mRNAs. Irregular or aberrant mRNA are rapidly degraded by various enzymes. If a defective mRNA escapes the surveillance, it would be translated into a protein which would either be non-functional or not function properly. One of the primary irregularities in...
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,...
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...
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
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,...

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相关实验视频

Updated: Jul 8, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

在人类长QT综合征中,无意义突变导致hERG突变mRNA转录因无意义介导的mRNA衰变而减少.

Qiuming Gong1, Li Zhang, G Michael Vincent

  • 1Division of Cardiovascular Medicine, Oregon Health and Science University, 3181 SW Sam Jackson Park Rd, Portland, OR 97239, USA.

Circulation
|June 20, 2007
PubMed
概括

无意中介的mRNA衰变降低了长QT综合征2型 (LQT2) 患者的hERG mRNA水平,这些患者有过早终止的代码. 这种降解机制,而不是截断的蛋白质,解释了LQT2.2中减少的hERG mRNA.

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Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein
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Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein

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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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相关实验视频

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein
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Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein

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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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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.
  • 心脏病学 心脏病学

背景情况:

  • 长QT综合征2型 (LQT2) 与人类以太-a-go-go相关基因 (hERG) 的突变有关.
  • 超过30%的LQT2突变会产生过早终结子 (PTC).
  • 无意中介的mRNA衰变 (NMD) 是一种已知的降解含有PTC的mRNA的途径,但其在LQT2中的作用尚未被探索.

研究的目的:

  • 调查无意中介mRNA衰变 (NMD) 在LQT2.2中的作用.
  • 为了确定NMD是否会影响LQT2患者的hERG mRNA水平.

主要方法:

  • 在患者淋巴细胞中对hERG mRNA的基因特异性转录量化.
  • 在HEK293细胞和新生小鼠心室肌细胞中分析hERG微基因.
  • 使用循环赫西米德和Upf1敲击抑制NMD的评估.

主要成果:

  • 与野生型相比,LQT2突变R1014X和W1001X显示突变hERGmRNA水平降低.
  • 携带PTC的hERG微基因显示mRNA水平降低.
  • 抑制蛋白质合成或Upf1恢复突变hERGmRNA水平,证实了NMD的参与.

结论:

  • LQT2无意义突变通过NMD降低突变hERGmRNA水平,而不是通过产生截断的蛋白质.
  • 在LQT2患者中,NMD介导的hERG突变mRNA降解是PTC或框架转移突变的重要机制.