{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T08:17:21Z","timestamp":1791274641534,"version":"4.1.0"},"reference-count":47,"publisher":"National Academy of Sciences","issue":"39","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2004,9,28]]},"abstract":"<jats:p>\n                    Genomic rearrangements are a frequent source of instability, but the mechanisms involved are poorly understood. A 2.5-kbp poly(purine\u00b7pyrimidine) sequence from the human\n                    <jats:italic>PKD1<\/jats:italic>\n                    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\u00b7pyrimidine) 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.\n                  <\/jats:p>","DOI":"10.1073\/pnas.0405974101","type":"journal-article","created":{"date-parts":[[2004,9,17]],"date-time":"2004-09-17T20:29:25Z","timestamp":1095452965000},"page":"14162-14167","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":169,"title":["Breakpoints of gross deletions coincide with non-B DNA conformations"],"prefix":"10.1073","volume":"101","author":[{"given":"Albino","family":"Bacolla","sequence":"first","affiliation":[{"name":"Institute of Biosciences and Technology, Center for Genome Research, Texas A&amp;M University System Health Science Center, Texas Medical Center, 2121 Holcombe Boulevard, Houston, TX 77030; Department of Genetics of Microorganisms, Institute of Microbiology and Immunology, University of Lodz, 12\/16 Banacha Street, 90-237 Lodz, Poland; DNA Technologies Group, Biotechnology Division, National Institute of Standards and Technology, Gaithersburg, MD 20899-8311; and Biostatistics and Bioinformatics Unit..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam","family":"Jaworski","sequence":"additional","affiliation":[{"name":"Institute of Biosciences and Technology, Center for Genome Research, Texas A&amp;M University System Health Science Center, Texas Medical Center, 2121 Holcombe Boulevard, Houston, TX 77030; Department of Genetics of Microorganisms, Institute of Microbiology and Immunology, University of Lodz, 12\/16 Banacha Street, 90-237 Lodz, Poland; DNA Technologies Group, Biotechnology Division, National Institute of Standards and Technology, Gaithersburg, MD 20899-8311; and Biostatistics and Bioinformatics Unit..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacquelynn E.","family":"Larson","sequence":"additional","affiliation":[{"name":"Institute of Biosciences and Technology, Center for Genome Research, Texas A&amp;M University System Health Science Center, Texas Medical Center, 2121 Holcombe Boulevard, Houston, TX 77030; Department of Genetics of Microorganisms, Institute of Microbiology and Immunology, University of Lodz, 12\/16 Banacha Street, 90-237 Lodz, Poland; DNA Technologies Group, Biotechnology Division, National Institute of Standards and Technology, Gaithersburg, MD 20899-8311; and Biostatistics and Bioinformatics Unit..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John P.","family":"Jakupciak","sequence":"additional","affiliation":[{"name":"Institute of Biosciences and Technology, Center for Genome Research, Texas A&amp;M University System Health Science Center, Texas Medical Center, 2121 Holcombe Boulevard, Houston, TX 77030; Department of Genetics of Microorganisms, Institute of Microbiology and Immunology, University of Lodz, 12\/16 Banacha Street, 90-237 Lodz, Poland; DNA Technologies Group, Biotechnology Division, National Institute of Standards and Technology, Gaithersburg, MD 20899-8311; and Biostatistics and Bioinformatics Unit..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Chuzhanova","sequence":"additional","affiliation":[{"name":"Institute of Biosciences and Technology, Center for Genome Research, Texas A&amp;M University System Health Science Center, Texas Medical Center, 2121 Holcombe Boulevard, Houston, TX 77030; Department of Genetics of Microorganisms, Institute of Microbiology and Immunology, University of Lodz, 12\/16 Banacha Street, 90-237 Lodz, Poland; DNA Technologies Group, Biotechnology Division, National Institute of Standards and Technology, Gaithersburg, MD 20899-8311; and Biostatistics and Bioinformatics Unit..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaun S.","family":"Abeysinghe","sequence":"additional","affiliation":[{"name":"Institute of Biosciences and Technology, Center for Genome Research, Texas A&amp;M University System Health Science Center, Texas Medical Center, 2121 Holcombe Boulevard, Houston, TX 77030; Department of Genetics of Microorganisms, Institute of Microbiology and Immunology, University of Lodz, 12\/16 Banacha Street, 90-237 Lodz, Poland; DNA Technologies Group, Biotechnology Division, National Institute of Standards and Technology, Gaithersburg, MD 20899-8311; and Biostatistics and Bioinformatics Unit..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine D.","family":"O'Connell","sequence":"additional","affiliation":[{"name":"Institute of Biosciences and Technology, Center for Genome Research, Texas A&amp;M University System Health Science Center, Texas Medical Center, 2121 Holcombe Boulevard, Houston, TX 77030; Department of Genetics of Microorganisms, Institute of Microbiology and Immunology, University of Lodz, 12\/16 Banacha Street, 90-237 Lodz, Poland; DNA Technologies Group, Biotechnology Division, National Institute of Standards and Technology, Gaithersburg, MD 20899-8311; and Biostatistics and Bioinformatics Unit..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David N.","family":"Cooper","sequence":"additional","affiliation":[{"name":"Institute of Biosciences and Technology, Center for Genome Research, Texas A&amp;M University System Health Science Center, Texas Medical Center, 2121 Holcombe Boulevard, Houston, TX 77030; Department of Genetics of Microorganisms, Institute of Microbiology and Immunology, University of Lodz, 12\/16 Banacha Street, 90-237 Lodz, Poland; DNA Technologies Group, Biotechnology Division, National Institute of Standards and Technology, Gaithersburg, MD 20899-8311; and Biostatistics and Bioinformatics Unit..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert D.","family":"Wells","sequence":"additional","affiliation":[{"name":"Institute of Biosciences and Technology, Center for Genome Research, Texas A&amp;M University System Health Science Center, Texas Medical Center, 2121 Holcombe Boulevard, Houston, TX 77030; 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