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Related Experiment Videos

Methods to Study Repeat Fragility and Instability in Saccharomyces cerevisiae.

Erica J Polleys1, Catherine H Freudenreich2

  • 1Department of Biology, Tufts University, 200 Boston Avenue, Medford, MA, 02155, USA.

Methods in Molecular Biology (Clifton, N.J.)
|October 19, 2017
PubMed
Summary

This study introduces novel yeast assays to measure chromosome breakage and repeat length changes in trinucleotide repeat sequences. These tools are crucial for understanding genetic mechanisms behind repeat instability and associated diseases.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Genomics

Background:

  • Trinucleotide repeats are prevalent in the human genome and prone to length alterations.
  • Expanded CAG repeats are implicated in over 14 human diseases and are associated with genomic instability.
  • Understanding the mechanisms of repeat instability is critical for disease research.

Purpose of the Study:

  • To develop and validate assays for measuring chromosome breakage (fragility) within repeat tracts.
  • To establish a method for assessing changes in repeat tract length (instability).
  • To investigate the genetic mechanisms underlying chromosome breaks and repeat length changes.

Main Methods:

  • Two Saccharomyces cerevisiae based assays were developed to evaluate chromosome breakage rates within repeat tracts.
Keywords:
CAG repeatChromosome breakFragilityStabilityYeast artificial chromosome (YAC)

Related Experiment Videos

  • The first fragility assay uses end-loss and telomere addition repair of yeast artificial chromosomes (YACs).
  • The second fragility assay leverages recombination-mediated repair stimulated by chromosomal breaks.
  • A PCR-based assay was employed to assess trinucleotide repeat tract length changes.

    • Main Results:

    • The developed assays successfully measure chromosome fragility and instability at repetitive DNA sequences.
    • These assays provide insights into the genetic mechanisms driving breaks and length alterations in repeat tracts.
    • The methods are adaptable for studying CAG repeat instability.

    Conclusions:

    • The described yeast-based assays are essential tools for studying chromosome fragility and instability at repetitive DNA sequences.
    • These assays facilitate a deeper understanding of the genetic basis of trinucleotide repeat disorders.
    • The developed methods are valuable for both basic research and potential therapeutic target identification.