New insights into the genetic instability in CCTG repeats
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AbstractTetranucleotide CCTG repeat expansion is associated with myotonic dystrophy type 2, which is an inherited and progressive muscle degeneration disease. Yet, no cure is available and the molecular mechanism of repeat expansion remains elusive. In this study, we used high-resolution nuclear magnetic resonance spectroscopy to reveal a mini-dumbbell structure formed by two CCTG repeats. Upon slippage in the nascent strand during DNA replication, the formation of the mini-dumbbell provides a possible pathway for a two-repeat expansion. In addition, fast exchange between two competing mini-dumbbells among three repeats results in a mini-loop structure that accounts for one-repeat expansion. These mini-dumbbell and mini-loop intermediates can also co-exist at multiple sites in CCTG repeats, leading to three or larger size repeat expansions. (C) 2015 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.
All Author(s) ListGuo P, Lam SL
Journal nameFEBS Letters
Volume Number589
Issue Number20
Pages3058 - 3063
LanguagesEnglish-United Kingdom
KeywordsCCTG repeat expansion; DNA structure; Dumbbell; Myotonic dystrophy type 2; Nuclear magnetic resonance
Web of Science Subject CategoriesBiochemistry & Molecular Biology; Biophysics; Cell Biology

Last updated on 2021-19-09 at 00:05