Guy-Franck Richard - Trinucleotide Repeats: Methods and Protocols

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For over 35 years, biological scientists have come to rely on the research protocols and methodologies in the critically acclaimed Methods in Molecular Biology series. The series was the first to introduce the step-by-step protocols approach that has become the standard in all biomedical protocol publishing. Each protocol is provided in readily-reproducible step-by-step fashion, opening with an introductory overview, a list of the materials and reagents needed to complete the experiment, and followed by a detailed procedure that is supported with a helpful notes section offering tips and tricks of the trade as well as troubleshooting advice. These hallmark features were introduced by series editor Dr. John Walker and constitute the key ingredient in each and every volume of the Methods in Molecular Biology series. Tested and trusted, comprehensive and reliable, all protocols from the series are indexed in PubMed.

Cover illustration: Trinucleotide repeat secondary structures: an artist view. Original painting by Emily Richard.

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Since the discovery of the first human disorder linked to trinucleotide repeat expansions , almost three decades ago, researchers in the field have been fascinated by the unusual properties of these peculiar microsatellites . In order to understand the complex dynamics of trinucleotide repeats, experimental designs were conceived in model systems such as bacteria, yeast , flies, human cells , and transgenic mouse. One aspect of the problems complexity is reflected by the technical challenges raised by secondary structure -forming repeats and their propensity to contract and expand over time. These will be dealt with in Chapters . Finally, tentative gene therapy approaches using the CRISPR-Cas family of endonucleases will be presented in the last two chapters.

We hope that this series of methods and protocols will be valuable to confirmed researchers in the field, as well as to newcomers to the fascinating and ever-expanding world of trinucleotide repeats.