GFP reporters to monitor instability and expression of expanded CAG/CTG repeats

Cinesi, Cinzia, Yang, Bin and Dion, Vincent ORCID: https://orcid.org/0000-0003-4953-7637 2019. GFP reporters to monitor instability and expression of expanded CAG/CTG repeats. Richard, Guy-Franck, ed. Trinucleotide Repeats: Methods and Protocols, Vol. 2056. Methods in Molecular Biology, Humana Press, pp. 255-268. (10.1007/978-1-4939-9784-8_16)

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Abstract

Expanded CAG/CTG repeats are genetically unstable and, upon expression, cause neurological and neuromuscular diseases. The molecular mechanisms of repeat instability and expression remain poorly understood despite their importance for the pathogenesis of a family of 14 devastating human diseases. This is in part because conventional assays are tedious and time-consuming. Recently, however, GFP-based reporters have been designed to provide a rapid and reliable means of assessing these parameters. Here we provide protocols for quantifying repeat instability and expression using a GFP-based chromosomal reporter and the newly developed ParB/ANCHOR-mediated Inducible Targeting (PInT) and how to validate the results.

Item Type:	Book Section
Date Type:	Published Online
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Publisher:	Humana Press
ISBN:	978149399783
ISSN:	1064-3745
Last Modified:	26 Oct 2022 07:58
URI:	https://orca.cardiff.ac.uk/id/eprint/126302

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