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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 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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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: 04 Jun 2017 01:30

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