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Structures of CUG repeats in RNA: potential implications for human genetic diseases

Pinheiro, Philip, Scarlett, Garry, Rodger, Alison, Rodger, P. Mark, Murray, Anna, Brown, Tom, Newbury, Sarah F. and McClellan, James A. (2002) Structures of CUG repeats in RNA: potential implications for human genetic diseases The Journal of Biological Chemistry, 277, (38), pp. 35183-35190. (doi:10.1074/jbc.M202235200).

Record type: Article


Triplet repeats that cause human genetic diseases have been shown to exhibit unusual compact structures in DNA, and in this paper we show that similar structures exist in shorter "normal length" CNG RNA. CUG and control RNAs were made chemically and by in vitro transcription. We find that "normal" short CUG RNAs migrate anomalously fast on non-denaturing gels, compared with control oligos of similar base composition. By contrast, longer tracts approaching clinically relevant lengths appear to form higher order structures. The CD spectrum of shorter tracts is similar to triplex and pseudoknot nucleic acid structures and different from classical hairpin spectra. A model is outlined that enables the base stacking features of poly(r(G-C))2·poly(r(U)) or poly(d(G-C))2·poly(d(T)) triplexes to be achieved, even by a single 15-mer.

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Published date: 20 September 2002
Keywords: fragile-x-syndrome, circular-dichroism spectroscopy, human hereditary-diseases, single-stranded-dna, ctg triplet repeats, trinucleotide repeat, myotonic-dystrophy, escherichia-coli, in-vitro, conformational-changes


Local EPrints ID: 19836
ISSN: 0021-9258
PURE UUID: 22d1f3a9-f9d9-47ae-809f-de263f0bde99

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Date deposited: 22 Feb 2006
Last modified: 17 Jul 2017 16:30

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Author: Philip Pinheiro
Author: Garry Scarlett
Author: Alison Rodger
Author: P. Mark Rodger
Author: Anna Murray
Author: Tom Brown
Author: Sarah F. Newbury
Author: James A. McClellan

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