SpringerProtocols: Abstract: Mouse Models of Triplet Repeat Diseases

Mouse Models of Triplet Repeat Diseases

By: Gillian P. Bates², David G. Hay³

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Since their discovery in 1991, triplet repeat mutations have been found to be the cause of genomic fragile sites, two of which are linked to mental retardation, myotonic dystrophy, and several late-onset neurodegenerative diseases. In all cases, these mutations exhibit gametic and/or somatic instability once they have expanded into the mutant range. The mutations are located in coding and noncoding gene regions and have been found to act by dominant and recessive mechanisms. A wide range of mouse models has been generated to understand both of the mechanisms that underlie repeat instability and the molecular pathogenesis of the diseases. Mouse models have proved extremely useful in these goals and are now also being used for the preclinical testing of therapeutic compounds. This chapter reviews the successes and limitations of the approaches that have been developed.

Affiliation(s): (2) Department of Medical and Molecular Genetics, GKT School of Medicine, King’s College, Guy’s Hospital, London, UK
(3) Department of Medical and Molecular Genetics, GKT School of Medicine, King’s College London, Guy’s Hospital, London, UK

Book Title: Trinucleotide Repeat Protocols

Series: Methods in Molecular Biology | Volume: 277 | Pub. Date: Jun-18-2004 | Page Range: 3-15 | DOI: 10.1385/1-59259-804-8:003

Subject: Cell Biology

Key Words: Triplet repeat - polyglutamine disease - fragile X syndrome - myotonic dystrophy - Friedreich’s ataxia - mouse models - repeat instability - Huntingtin’s disease

References

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