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Trinucleotide Repeat Protocols

  • Book
  • © 2004

Overview

Editors:
  1. Yoshinori Kohwi

    1. Life Science Division, Lawrence Berkeley Laboratory, Berkeley, CA

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Part of the book series: Methods in Molecular Biology (MIMB, volume 277)

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Table of contents (22 protocols)

  1. Front Matter

    Pages i-xii
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  2. Introduction

    1. Front Matter

      Pages 1-1
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    2. Mouse Models of Triplet Repeat Diseases

      • Gillian P. Bates, David G. Hay
      Pages 3-15

  3. Analysis of Triplet Pepeat DNAs and RNAs

    1. Front Matter

      Pages 17-17
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    2. Analysis of Triplet Repeat Replication by Two-Dimensional Gel Electrophoresis

      • Maria M. Krasilnikova, Sergei M. Mirkin
      Pages 19-28

    3. Genetic Assays for Triplet Repeat Instability in Yeast

      • Michael J. Dixon, Saumitri Bhattacharyya, Robert S. Lahue
      Pages 29-45

    4. Detection and Isolation of Trinucleotide Repeat Expansions Using the RED Method

      • Qiu-Ping Yuan, Martin Schalling
      Pages 47-59

    5. Analysis of Unstable Triplet Repeats Using Small-Pool Polymerase Chain Reaction

      • Mário Gomes-Pereira, Sanjay I. Bidichandani, Darren G. Monckton
      Pages 61-76

    6. Real-Time RT-PCR for CTG Repeat-Containing Genes

      • Maria Eriksson
      Pages 77-84

  4. Detection and Analysis of Polyglutamine-Containing Proteins and Their Aggregates

    1. Front Matter

      Pages 85-85
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    2. Antibodies Against Huntingtin

      • Ali Khoshnan, Susan Ou, Jan Ko, Paul H. Patterson
      Pages 87-102

    3. Using Antibodies to Analyze Polyglutamine Stretches

      • Elizabeth Brooks, Montserrat Arrasate, Kenneth Cheung, Steven M. Finkbeiner
      Pages 103-128

    4. Solubilization of Aggregates Formed by Expanded Polyglutamine Tract Expression in Cultured Cells

      • Noriko Hazeki, Ichiro Kanazawa
      Pages 129-137

  5. Establishment of Animal and Cultured Cell Models for Trinucleotide Repeat Diseases

    1. Front Matter

      Pages 139-139
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    2. Caenorhabditis elegans as a Model System for Triplet Repeat Diseases

      • Cindy Voisine, Anne C. Hart
      Pages 141-160

    3. Monitoring Aggregate Formation in Organotypic Slice Cultures From Transgenic Mice

      • Donna L. Smith, Gillian P. Bates
      Pages 161-171

    4. The CGG Repeat and the FMR1 Gene

      • Violeta Stoyanova, Ben A. Oostra
      Pages 173-184

    5. Analysis of CTG Repeats Using DM1 Model Mice

      • Cédric Savouret, Claudine Junien, Geneviève Gourdon
      Pages 185-197

    6. Lentiviral-Mediated Gene Transfer to Model Triplet Repeat Disorders

      • Etienne Régulier, Diana Zala, Patrick Aebischer, Nicole Déglon
      Pages 199-213

    7. Mouse Tissue Culture Models of Unstable Triplet Repeats

      • Mário Gomes-Pereira, Darren G. Monckton
      Pages 215-227
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About this book

Trinucleotide repeats are relatively common in the human genome. These simple repeats have received much attention since epoch-making discoveries were made that particular trinucleotide repeats are expanded in the causal genes of human hereditary neurological disorders. For example, the CGG repeat is expanded in fragile X syndrome at the 5' untranslated region (UTR) of its causal gene. In myotonic dystrophy, it is the CTG repeat that is expanded at the 3' UTR of its causal gene. The CAG repeat was also found expanded in coding regions of the genes responsible for X-linked spinal and bulbar muscular atrophy, Huntington’s disease, spinocerebellar ataxia, and other disorders. On the other hand, expansion of the GAA repeat was identified in the intron of the gene responsible for the Friedreich’s ataxia. For these trinucleotide repeat diseases, the longer the trinucleotide expansion, the earlier the age of onset and the more severe the syndrome. Thus, these findings that showed the intriguing link between a particular trinucleotide expansion and its associated neurological disorders have led to a new field of intensive study. Active research addressing the underlying mechanisms for trinucleotide repeat diseases has employed various approaches ranging from DNA biochemistry to animal models for the diseases. In particular, animal models for the triplet repeat diseases have provided excellent resources not only for understanding the mechanisms but also for exploring therapeutic interventions.

Editors and Affiliations

  • Life Science Division, Lawrence Berkeley Laboratory, Berkeley, CA

    Yoshinori Kohwi

Bibliographic Information

  • Book Title: Trinucleotide Repeat Protocols

  • Editors: Yoshinori Kohwi

  • Series Title: Methods in Molecular Biology

  • DOI: https://doi.org/10.1385/1592598048

  • Publisher: Humana Totowa, NJ

  • eBook Packages: Springer Protocols

  • Copyright Information: Humana Press 2004

  • Hardcover ISBN: 978-1-58829-243-8Published: 18 June 2004

  • Softcover ISBN: 978-1-61737-446-3Published: 10 November 2010

  • eBook ISBN: 978-1-59259-804-5Published: 03 February 2008

  • Series ISSN: 1064-3745

  • Series E-ISSN: 1940-6029

  • Edition Number: 1

  • Number of Pages: XII, 342

  • Topics: Cell Biology

  • Industry Sectors: Biotechnology, Pharma

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