Experimenting with Trinucleotide Repeats: Facts and Technical Issues

Guy-Franck Richard (1)

1 UMR 3525 - Génétique des génomes - Genetics of Genomes

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.

Mots clés: Mismatch repair; Trinucleotide repeat; Secondary structure; PCR; Agarose gel electrophoresis; (separated by " -") Trinucleotide repeat -Secondary structure -PCR -Agarose gel electrophoresis -Mismatch repair Key words Trinucleotide repeat

Domaines: Sciences du Vivant [q-bio]

Guy-Franck Richard. Experimenting with Trinucleotide Repeats: Facts and Technical Issues. Guy-Franck Richard. Trinucleotide Repeats : Methods and Protocols, 2056, Springer Science; Business Media, LLC, pp.1-10, 2019, 978-1-4939-9783-1. ⟨10.1007/978-1-4939-9784-8_1⟩. ⟨pasteur-02864611⟩