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Experimenting with Trinucleotide Repeats: Facts and Technical Issues

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Trinucleotide Repeats

Part of the book series: Methods in Molecular Biology ((MIMB,volume 2056))

Abstract

Trinucleotide repeats are a peculiar class of microsatellites involved in many neurological as well as developmental disorders. Their propensity to generate very large expansions over time is supposedly due to their capacity to form specific secondary structures, such as imperfect hairpins, triple helices, or G-quadruplexes. These unusual structures were proposed to trigger expansions in vivo. Here, I review known technical issues linked to these structures, such as slippage during polymerase chain reaction and aberrant migration of long trinucleotide repeats during agarose gel electrophoresis. Our current understanding of interactions between trinucleotide repeat secondary structures and the mismatch-repair machinery is also quickly reviewed, and critical questions relevant to these interactions are addressed.

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Acknowledgments

Work in my lab is generously supported by the Centre National de la Recherche Scientifique (CNRS) and by the Institut Pasteur.

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Authors and Affiliations

  1. Department Genomes & Genetics, Institut Pasteur, CNRS UMR3525, Paris, France

    Guy-Franck Richard

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  1. Guy-Franck Richard
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Correspondence to Guy-Franck Richard .

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  1. Department Genomes & Genetics, Institut Pasteur, Paris, France

    Guy-Franck Richard

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Richard, GF. (2020). Experimenting with Trinucleotide Repeats: Facts and Technical Issues. In: Richard, GF. (eds) Trinucleotide Repeats. Methods in Molecular Biology, vol 2056. Humana, New York, NY. https://doi.org/10.1007/978-1-4939-9784-8_1

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  • DOI: https://doi.org/10.1007/978-1-4939-9784-8_1

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  • Publisher Name: Humana, New York, NY

  • Print ISBN: 978-1-4939-9783-1

  • Online ISBN: 978-1-4939-9784-8

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