期刊
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
卷 101, 期 39, 页码 14162-14167出版社
NATL ACAD SCIENCES
DOI: 10.1073/pnas.0405974101
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资金
- Direct For Biological Sciences
- Div Of Biological Infrastructure [965596] Funding Source: National Science Foundation
- NIEHS NIH HHS [ES11347, R01 ES011347] Funding Source: Medline
- NINDS NIH HHS [NS37554] Funding Source: Medline
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.
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