ArticleProceedings of the National Academy of Sciences of the United States of America2004
Breakpoints of gross deletions coincide with non-B DNA conformations.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 101 papers.
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Who cites it
101 citing papers in PubMed, 193 citations in OpenAlex.
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- Mechanisms of structural chromosomal rearrangement formation.Molecular cytogenetics · 2022Review
- High-throughput characterization of the role of non-B DNA motifs on promoter function.Cell genomics · 2022Article
- Distinct sequence features underlie microdeletions and gross deletions in the human genome.Human mutation · 2022Article
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- Evolutionary dynamics of the SARS-CoV-2 ORF8 accessory gene.Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases · 2020Article
- Modulation of DNA structure formation using small molecules.Biochimica et biophysica acta. Molecular cell research · 2019Review
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- Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.Genome medicine · 2018Article
- Long-read sequencing technology indicates genome-wide effects of non-B DNA on polymerization speed and error rate.Genome research · 2018Article
- Mutational signatures and mutable motifs in cancer genomes.Briefings in bioinformatics · 2018Review
- Break-induced replication links microsatellite expansion to complex genome rearrangements.BioEssays : news and reviews in molecular, cellular and developmental biology · 2017Review
- Replication stalling and DNA microsatellite instability.Biophysical chemistry · 2017Review
- Expressed Structurally Stable Inverted Duplicates in Mammalian Genomes as Functional Noncoding Elements.Genome biology and evolution · 2017Article
41 more citing papers are in PubMed but not listed here.
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
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.
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