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相关概念视频

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,...
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Mutations01:39

Mutations

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Overview
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siRNA - Small Interfering RNAs02:30

siRNA - Small Interfering RNAs

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Small interfering RNAs, or siRNAs, are short regulatory RNA molecules that can silence genes post-transcriptionally, as well as the transcriptional level in some cases. siRNAs are important for protecting cells against viral infections and silencing transposable genetic elements.
In the cytoplasm, siRNA is processed from a double-stranded RNA, which comes from either endogenous DNA transcription or exogenous sources like a virus. This double-stranded RNA is then cleaved by the...
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RNA Splicing01:32

RNA Splicing

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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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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Leaky Scanning02:28

Leaky Scanning

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During most eukaryotic translation processes, the small 40S ribosome subunit scans an mRNA from its 5' end until it encounters the first start AUG codon. The large 60S ribosomal subunit then joins the smaller one to initiate protein synthesis. The location of the translation initiation is largely determined by the nucleotides near the start codon as there may be multiple translation initiation sites present on the mRNA.  Marilyn Kozak discovered that the sequence RCCAUGG (where R...
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相关实验视频

Updated: Jul 23, 2025

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

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不确定沉默的同义变体 不确定沉默的同义变体

Christopher J Giacoletto1,2,3, Jerome I Rotter2,4, Wayne W Grody5,6,7

  • 1Nevada Institute of Personalized Medicine, University of Nevada Las Vegas, 4505 S. Maryland Parkway, Las Vegas, NV 89154, USA.

International journal of molecular sciences
|July 14, 2023
PubMed
概括

同义词的变体并不总是沉默的. 许多同名变体显示出显著的功能偏差,挑战它们的传统分类,并需要在遗传测试中仔细解释.

关键词:
这是一个序列的序列.沉默的变种是一种沉默的变种.同义词变体的同义词变体变体解释变体解释

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A Deep-sequencing-assisted, Spontaneous Suppressor Screen in the Fission Yeast Schizosaccharomyces pombe
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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科学领域:

  • 遗传学 遗传学 是一个
  • 分子生物学分子生物学
  • 生物信息学是一种生物信息学.

背景情况:

  • 同义变异,或"沉默突变",传统上不会改变蛋白质序列.
  • 新出现的证据表明,一些同名变体可以影响蛋白质功能,从而挑战了这种长期存在的假设.
  • 了解这些变异的功能影响对于准确的遗传解释至关重要.

研究的目的:

  • 为了研究同名变体的功能活动.
  • 挑战同义变体在功能上是惰性的概念.
  • 为功能相关的同名变体提出新的分类.

主要方法:

  • 在HIV Tat转录因子中分析了70种同名变异.
  • 与野生类型相比,对变体活动的评估.
  • 对同义变异函数的现有文献的审查.

主要成果:

  • 在分析的同名变体中,50%显示出与野生类型活动的显著偏差.
  • 这些发现支持了之前的研究,表明某些同名变体的功能作用.
  • 这项研究强调了人类基因中非沉默的同名变异的潜力.

结论:

  • 同名变体可以具有显著的功能影响,与传统观点相反.
  • 作者建议将这些变体归类为"不确定的沉默的同义变体" (sVUS).
  • 这种分类强调了需要谨慎解释和在临床和遗传环境中进一步研究的需要.