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Related Concept Videos

RNA Editing02:23

RNA Editing

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RNA editing is a post-transcriptional modification where a precursor mRNA (pre-mRNA) nucleotide sequence is changed by base insertion, deletion, or modification. The extent of RNA editing varies from a few hundred bases, in mitochondrial DNA of trypanosomes, to a just single base, in nuclear genes of mammals. Even a single base change in the pre-mRNA can convert a codon for one amino acid into the codon for another amino acid or a stop codon. This type of re-coding can significantly affect the...
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Experimental RNAi02:15

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RNA interference (RNAi) is a cellular mechanism that inhibits gene expression by suppressing its transcription or activating the RNA degradation process. The mechanism was discovered by Andrew Fire and Craig Mello in 1998 in plants. Today, it is observed in almost all eukaryotes, including protozoa, flies, nematodes, insects, parasites, and mammals. This precise cellular mechanism of gene silencing has been developed into a technique that provides an efficient way to identify and determine the...
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RNA Interference01:23

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RNA interference (RNAi) is a process in which a small non-coding RNA molecule blocks the post-transcriptional expression of a gene by binding to its messenger RNA (mRNA) and preventing the protein from being translated.
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Exon Recombination02:32

Exon Recombination

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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. 
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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.
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Translation01:31

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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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Related Experiment Video

Updated: Dec 13, 2025

High-throughput Quantitative Real-time RT-PCR Assay for Determining Expression Profiles of Types I and III Interferon Subtypes
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RNA Editing in Interferonopathies.

Loredana Frassinelli1, Silvia Galardi1, Silvia Anna Ciafrè1

  • 1Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.

Methods in Molecular Biology (Clifton, N.J.)
|July 31, 2020
PubMed
Summary
This summary is machine-generated.

Mutations in the ADAR1 gene disrupt RNA editing, leading to abnormal type I interferon signaling and interferonopathies. This review explores how ADAR1 gene mutations cause these immune system disorders.

Keywords:
ADAR1Double-stranded RNAsInnate immunityInterferonopathiesRNA editingType I interferon

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Area of Science:

  • Genetics
  • Immunology
  • Molecular Biology

Background:

  • Type I interferonopathies are rare genetic disorders characterized by overactive type I interferon signaling.
  • Genetic studies reveal that defects in nucleic acid processing and signaling underlie these conditions.

Purpose of the Study:

  • To review the role of ADAR1 gene mutations in type I interferonopathies.
  • To explain how altered RNA editing by ADAR1 contributes to inappropriate interferon activation.

Main Methods:

  • Literature review of genetic studies on interferonopathies.
  • Analysis of the function of ADAR1 in RNA editing (A-to-I).

Main Results:

  • Mutations in ADAR1 are identified in patients with type I interferonopathies.
  • ADAR1's RNA editing function is crucial for preventing aberrant interferon responses.

Conclusions:

  • Alterations in ADAR1-mediated RNA editing are a key mechanism driving type I interferonopathies.
  • Understanding these RNA editing defects offers insights into disease pathogenesis and potential therapeutic targets.