Breakpoints of gross deletions coincide with non-B DNA conformations

Bacolla, Albino, Jaworski, Adam, Larson, Jacquelynn E., Jackupciak, John P., Chuzhanova, Nadia, Abeysinghe, Shaun A., O'Connell, Catherine D., Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Wells, Robert D. 2004. Breakpoints of gross deletions coincide with non-B DNA conformations. Proceedings of the National Academy of Sciences 101 (39) , pp. 14162-14167. 10.1073/pnas.0405974101

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Abstract

Genomic rearrangements are a frequent source of instability, but the mechanisms involved are poorly understood. A 2.5-kbp poly(purine.pyrimidine) sequence from the human PKD1 gene, known to form non-B DNA structures, induced long deletions and other instabilities in plasmids that were mediated by mismatch repair and, in some cases, transcription. The breakpoints occurred at predicted non-B DNA structures. Distance measurements also indicated a significant proximity of alternating purine-pyrimidine and oligo(purine.pyrimidine) tracts to breakpoint junctions in 222 gross deletions and translocations, respectively, involved in human diseases. In 11 deletions analyzed, breakpoints were explicable by non-B DNA structure formation. We conclude that alternative DNA conformations trigger genomic rearrangements through recombination-repair activities.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
ISSN:	1091-6490
Last Modified:	17 Oct 2022 08:26
URI:	https://orca.cardiff.ac.uk/id/eprint/154

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