Skip to main content
SpringerLink
Log in
Download book PDF
Download book EPUB
Book cover
  • Book
  • © 2004

Trinucleotide Repeat Protocols

Editors:

  1. Yoshinori Kohwi

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

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

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

Sections

Buy it now

Softcover Book USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book USD 109.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access

Table of contents (22 protocols)

  1. Front Matter

    Pages i-xii
    PDF

  2. Introduction

    1. Front Matter

      Pages 1-1
      PDF

    2. Mouse Models of Triplet Repeat Diseases

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

  3. Analysis of Triplet Pepeat DNAs and RNAs

    1. Front Matter

      Pages 17-17
      PDF

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

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

    3. Genetic Assays for Triplet Repeat Instability in Yeast

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

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

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

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

    1. Front Matter

      Pages 85-85
      PDF

    2. Antibodies Against Huntingtin

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

    3. Using Antibodies to Analyze Polyglutamine Stretches

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

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

    1. Front Matter

      Pages 139-139
      PDF
    2. PDF
    3. PDF

    4. The CGG Repeat and the FMR1 Gene

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

    5. Analysis of CTG Repeats Using DM1 Model Mice

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

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

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

    7. Mouse Tissue Culture Models of Unstable Triplet Repeats

      • Mário Gomes-Pereira, Darren G. Monckton
      Pages 215-227
      PDF
Back to top

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.
Back to top

Editors and Affiliations

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

    Yoshinori Kohwi

Back to top

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

Back to top

Publish with us

Policies and ethics

Back to top
Download book PDF
Download book EPUB

Buy it now

Softcover Book USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book USD 109.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access

Search

Navigation