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Related Concept Videos

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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The basic structure of RNA consists of a five-carbon sugar and one of four nitrogenous bases. Although most RNA is single-stranded, it can form complex secondary and tertiary structures. Such structures play essential roles in the regulation of transcription and translation.
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Intact DNA strands can be found in fossils, while scientists sometimes struggle to keep RNA intact under laboratory conditions. The structural variations between RNA and DNA underlie the differences in their stability and longevity. Because DNA is double-stranded, it is inherently more stable. The single-stranded structure of RNA is less stable but also more flexible and can form weak internal bonds. Additionally, most RNAs in the cell are relatively short, while DNA can be up to 250 million...
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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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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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Updated: Feb 10, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

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BC RNA Mislocalization in the Fragile X Premutation.

Ilham A Muslimov1,2, Taesun Eom1,2, Anna Iacoangeli1,2

  • 1The Robert F. Furchgott Center for Neural and Behavioral Science, State University of New York Downstate Medical Center, Brooklyn, New York 11203.

Eneuro
|May 17, 2018
PubMed
Summary
This summary is machine-generated.

Fragile X premutation disorder involves CGG repeat expansions that disrupt RNA transport, leading to BC1 RNA mislocalization. This causes neurological issues like seizures and cognitive deficits in premutation mice.

Keywords:
CGG repeatsRNA localizationcognitive impairmentepileptiform activityregulatory RNAs

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Capturing Common Fragile Site Breaks by Native γH2A.X ChIP
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Capturing Common Fragile Site Breaks by Native γH2A.X ChIP

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Area of Science:

  • Neurogenetics
  • Molecular Biology
  • RNA Biology

Background:

  • Fragile X premutation disorder stems from CGG triplet repeat expansions in the FMR1 gene's 5' UTR.
  • The precise molecular mechanisms driving disease pathogenesis remain under investigation.
  • RNA transport and localization are critical for neuronal function.

Purpose of the Study:

  • To investigate the role of CGG repeat structures in FMR1 mRNA and their impact on RNA transport.
  • To determine if BC1 RNA mislocalization contributes to the neurological phenotype in Fragile X premutation models.
  • To characterize the cognitive and epileptogenic phenotypes in CGG-repeat knock-in mice.

Main Methods:

  • Utilized a CGG-repeat knock-in mouse model for Fragile X premutation.
  • Assessed RNA localization using in vivo studies and brain tissue analysis.
  • Evaluated neuronal excitability in hippocampal CA3 neurons.
  • Conducted behavioral tests, including the Attentional Set Shift Task, to assess cognitive function.
  • Examined susceptibility to sound-induced seizures.

Main Results:

  • CGG-repeat structures were found to compete with BC1 RNA for the RNA transport factor hnRNP A2.
  • BC1 RNA showed significantly diminished synapto-dendritic presence in premutation mouse brains.
  • CGG premutation mice exhibited epileptogenic susceptibility and cognitive impairments.
  • Specific neuronal hyperexcitability, dependent on metabotropic glutamate receptors, was observed in hippocampal neurons.
  • Mice displayed sound-induced seizures and deficits in the Attentional Set Shift Task.

Conclusions:

  • RNA mislocalization, specifically the reduced synapto-dendritic presence of BC1 RNA, is a key pathogenic mechanism in Fragile X premutation disorder.
  • These findings highlight RNA mislocalization as a potential contributor to neurodevelopmental deficits and disease manifestations.
  • The study establishes a link between molecular pathology and observable neurological and cognitive phenotypes in a premutation model.