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Trinucleotide Repeat Protocols Methods in Molecular Biology 1st Edition by Yoshinori Kohwi ISBN 1588292436 9781617374463

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Author(s): Yoshinori Kohwi
ISBN(s): 1588292436
Edition: 1
File Details: PDF, 6.42 MB
Year: 2004
Language: english
SKU: EB-2113428 Category: Tag:

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ISBN 10: 1588292436
ISBN 13: 9781617374463
Author: Yoshinori Kohwi

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.

Trinucleotide Repeat Protocols Methods in Molecular Biology 1st Table of contents:

  • Analysis of Triplet Repeat Replication by Two-Dimensional Gel Electrophoresis
  • Genetic Assays for Triplet Repeat Instability in Yeast
  • Detection and Isolation of Trinucleotide Repeat Expansions Using the RED Method
  • Analysis of Unstable Triplet Repeats Using Small-Pool Polymerase Chain Reaction
  • Real-Time RT-PCR for CTG Repeat-Containing Genes
  • Detection and Analysis of Polyglutamine-Containing Proteins and Their Aggregates
  • Antibodies Against Huntingtin
  • Using Antibodies to Analyze Polyglutamine Stretches
  • Solubilization of Aggregates Formed by Expanded Polyglutamine Tract Expression in Cultured Cells
  • Establishment of Animal and Cultured Cell Models for Trinucleotide Repeat Diseases
  • Caenorhabditis elegans as a Model System for Triplet Repeat Diseases
  • Monitoring Aggregate Formation in Organotypic Slice Cultures From Transgenic Mice
  • The CGG Repeat and the FMR1 Gene
  • Analysis of CTG Repeats Using DM1 Model Mice
  • Lentiviral-Mediated Gene Transfer to Model Triplet Repeat Disorders
  • Mouse Tissue Culture Models of Unstable Triplet Repeats
  • Neurotransmitter Receptor Analysis in Transgenic Mouse Models
  • Chromatin Immunoprecipitation Technique for Study of Transcriptional Dysregulation in Intact Mouse Brain
  • Techniques for Thick-Section Golgi Impregnation of Formalin-Fixed Brain Tissue
  • Assessment of Impaired Proteasomal Function in a Cellular Model of Polyglutamine Diseases
  • Assessment of In Vitro and In Vivo Mitochondrial Function in Friedreich’s Ataxia and Huntington’s Disease
  • Triplet Repeats and DNA Repair
  • Oxidative Damage in Huntington’s Disease

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Yoshinori Kohwi,Trinucleotide,Protocols Methods,Molecular Biology