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Related Concept Videos

Reporter Genes02:11

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Reporter genes are a type of protein-coding gene that are often tagged to a gene of interest. Once inside a target cell, reporter genes usually produce visually identifiable characteristics like fluorescence and luminescence when expressed along with the gene of interest. Thus, reporter genes “report” the presence or absence of genes of interest in an organism, determine the gene expression pattern, or track the physical location of a DNA segment or protein in the cell.
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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
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The gene expression in cells is regulated at different stages: (i) transcription, (ii) RNA processing, (iii) RNA localization, and (iv) translation. Transcriptional regulation is mediated by regulatory proteins such as transcription factors, activators, or repressors—these control gene expression by initiating or inhibiting the transcription of genes. Once a precursor or pre-mRNA is produced, it undergoes post-transcriptional modification, including 5' capping, splicing, and the...
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Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
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Updated: Aug 12, 2025

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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GEN1 promotes common fragile site expression.

Anaid Benitez1, Marie Sebald1, Radhakrishnan Kanagaraj1

  • 1The Francis Crick Institute, DNA Recombination and Repair Laboratory, 1 Midland Road, London NW1 1AT, UK.

Cell Reports
|February 2, 2023
PubMed
Summary
This summary is machine-generated.

The structure-selective endonuclease GEN1 resolves DNA replication and recombination intermediates. Loss of GEN1 impairs common fragile site resolution, causing genome instability and DNA damage.

Keywords:
CP: Molecular biologyDNA damageMiDASanaphase bridgerecombinationreplicationreplication stressresolution

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Area of Science:

  • Genetics
  • Molecular Biology
  • Cell Biology

Background:

  • Common fragile sites (CFSs) are DNA regions prone to instability and breakage.
  • Replication stress can lead to CFS expression and under-replicated DNA.
  • Mitotic DNA synthesis (MiDAS) repairs under-replicated DNA before cell division.

Purpose of the Study:

  • To investigate the role of the endonuclease GEN1 in resolving common fragile sites.
  • To determine the impact of GEN1 loss on DNA replication, repair, and genome stability.

Main Methods:

  • Utilized GEN1 knockout cells to study CFS expression and DNA repair.
  • Analyzed DNA damage, ultrafine anaphase bridges, and chromosome segregation.
  • Assessed bichromatid constrictions as indicators of unresolved DNA.

Main Results:

  • GEN1 deficiency significantly reduced CFS expression and MiDAS.
  • Loss of GEN1 led to ultrafine anaphase bridges and DNA damage due to aberrant segregation.
  • GEN1 knockout cells showed increased bichromatid constrictions, indicating unresolved DNA.

Conclusions:

  • GEN1 plays a critical role in resolving under-replicated DNA at CFS loci.
  • GEN1 acts as a dual-function endonuclease, resolving both replication and recombination intermediates.
  • GEN1 is essential for preventing genome instability and ensuring accurate chromosome segregation.