{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:36:58Z","timestamp":1791329818629,"version":"4.3.1"},"reference-count":49,"publisher":"Public Library of Science (PLoS)","issue":"3","license":[{"start":{"date-parts":[[2015,3,6]],"date-time":"2015-03-06T00:00:00Z","timestamp":1425600000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosgenetics.org"],"crossmark-restriction":false},"short-container-title":["PLoS Genet"],"DOI":"10.1371\/journal.pgen.1005050","type":"journal-article","created":{"date-parts":[[2015,3,6]],"date-time":"2015-03-06T18:56:30Z","timestamp":1425668190000},"page":"e1005050","update-policy":"https:\/\/doi.org\/10.1371\/journal.pgen.corrections_policy","source":"Crossref","is-referenced-by-count":62,"title":["Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication"],"prefix":"10.1371","volume":"11","author":[{"given":"Christine R.","family":"Beck","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia M. B.","family":"Carvalho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Banser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomasz","family":"Gambin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"Stubbolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Sperle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne M.","family":"McCahan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Henneke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pavel","family":"Seeman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James Y.","family":"Garbern","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grace M.","family":"Hobson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R.","family":"Lupski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2015,3,6]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1038\/ng.944","article-title":"Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome","volume":"43","author":"CM Carvalho","year":"2011","journal-title":"Nat Genet"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1002\/humu.22217","article-title":"Inverted low-copy repeats and genome instability\u2014a genome-wide analysis","volume":"34","author":"P Dittwald","year":"2013","journal-title":"Hum Mutat"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"2642","DOI":"10.1093\/hmg\/ddt113","article-title":"Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms","volume":"22","author":"W Zhou","year":"2013","journal-title":"Hum Mol Genet"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1038\/ng1193-236","article-title":"Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A","volume":"5","author":"D Lakich","year":"1993","journal-title":"Nat Genet"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"e1004139","DOI":"10.1371\/journal.pgen.1004139","article-title":"Large inverted duplications in the human genome form via a fold-back mechanism","volume":"10","author":"KE Hermetz","year":"2014","journal-title":"PLoS Genet"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1002\/humu.20465","article-title":"Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2","volume":"28","author":"R Giorda","year":"2007","journal-title":"Hum Mutat"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1016\/j.cell.2009.07.042","article-title":"Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes","volume":"138","author":"J Lange","year":"2009","journal-title":"Cell"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/nature06862","article-title":"Mapping and sequencing of structural variation from eight human genomes","volume":"453","author":"JM Kidd","year":"2008","journal-title":"Nature"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"6099","DOI":"10.1073\/pnas.0701631104","article-title":"Recurrent DNA inversion rearrangements in the human genome","volume":"104","author":"M Flores","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref10","article-title":"CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree","author":"C Soler-Alfonso","year":"2014","journal-title":"Eur J Hum Genet"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1038\/ejhg.2012.235","article-title":"Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements","volume":"21","author":"S Beri","year":"2013","journal-title":"Eur J Hum Genet"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"1080","DOI":"10.1002\/humu.22353","article-title":"Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene","volume":"34","author":"A Ishmukhametova","year":"2013","journal-title":"Hum Mutat"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/j.ejmg.2012.02.013","article-title":"Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region","volume":"55","author":"K Shimojima","year":"2012","journal-title":"Eur J Med Genet"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1093\/brain\/awh409","article-title":"Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease","volume":"128","author":"NI Wolf","year":"2005","journal-title":"Brain"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1002\/pd.465","article-title":"Prenatal diagnosis of Pelizaeus-Merzbacher disease","volume":"22","author":"J Garbern","year":"2002","journal-title":"Prenat Diagn"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1086\/342728","article-title":"Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females","volume":"71","author":"K Inoue","year":"2002","journal-title":"Am J Hum Genet"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1002\/1531-8249(199905)45:5<624::AID-ANA11>3.0.CO;2-1","article-title":"Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations","volume":"45","author":"K Inoue","year":"1999","journal-title":"Ann Neurol"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/0092-8674(91)90613-4","article-title":"DNA duplication associated with Charcot-Marie-Tooth disease type 1A","volume":"66","author":"JR Lupski","year":"1991","journal-title":"Cell"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1016\/j.ajhg.2014.01.017","article-title":"Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication","volume":"94","author":"P Liu","year":"2014","journal-title":"Am J Hum Genet"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1038\/ng.2768","article-title":"Replicative mechanisms for CNV formation are error prone","volume":"45","author":"CM Carvalho","year":"2013","journal-title":"Nat Genet"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1016\/j.cell.2007.11.037","article-title":"A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders","volume":"131","author":"JA Lee","year":"2007","journal-title":"Cell"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"e1000327","DOI":"10.1371\/journal.pgen.1000327","article-title":"A microhomology-mediated break-induced replication model for the origin of human copy number variation","volume":"5","author":"PJ Hastings","year":"2009","journal-title":"PLoS Genet"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"2250","DOI":"10.1093\/hmg\/ddl150","article-title":"Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease","volume":"15","author":"JA Lee","year":"2006","journal-title":"Hum Mol Genet"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"966","DOI":"10.1086\/498048","article-title":"Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination","volume":"77","author":"KJ Woodward","year":"2005","journal-title":"Am J Hum Genet"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1101\/gr.229102. Article published online before print in May 2002","article-title":"The human genome browser at UCSC","volume":"12","author":"WJ Kent","year":"2002","journal-title":"Genome Res"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1038\/ng1562","article-title":"Fine-scale structural variation of the human genome","volume":"37","author":"E Tuzun","year":"2005","journal-title":"Nat Genet"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1038\/ng0597-96","article-title":"Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats","volume":"16","author":"K Small","year":"1997","journal-title":"Nat Genet"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1016\/j.ajhg.2011.09.009","article-title":"Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over","volume":"89","author":"P Liu","year":"2011","journal-title":"Am J Hum Genet"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1038\/nature09534","article-title":"A map of human genome variation from population-scale sequencing","volume":"467","author":"GR Abecasis","year":"2010","journal-title":"Nature"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1002\/ana.20732","article-title":"Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect","volume":"59","author":"JA Lee","year":"2006","journal-title":"Ann Neurol"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1038\/nature11676","article-title":"Recombination-restarted replication makes inverted chromosome fusions at inverted repeats","volume":"493","author":"K Mizuno","year":"2013","journal-title":"Nature"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"e1003979","DOI":"10.1371\/journal.pgen.1003979","article-title":"Genome-wide screen reveals replication pathway for quasi-palindrome fragility dependent on homologous recombination","volume":"9","author":"Y Zhang","year":"2013","journal-title":"PLoS Genet"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1038\/15544","article-title":"HNPCC-like cancer predisposition in mice through simultaneous loss of Msh3 and Msh6 mismatch-repair protein functions","volume":"23","author":"N de Wind","year":"1999","journal-title":"Nat Genet"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.ajhg.2014.06.014","article-title":"The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles","volume":"95","author":"PM Boone","year":"2014","journal-title":"Am J Hum Genet"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1086\/508709","article-title":"A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination","volume":"79","author":"SJ Lindsay","year":"2006","journal-title":"Am J Hum Genet"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1534\/genetics.112.138727","article-title":"Remarkably high rate of DNA amplification promoted by the mating-type switching mechanism in Schizosaccharomyces pombe","volume":"191","author":"C Yu","year":"2012","journal-title":"Genetics"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1146\/annurev.biochem.74.082803.133234","article-title":"Break-induced replication and recombinational telomere elongation in yeast","volume":"75","author":"MJ McEachern","year":"2006","journal-title":"Annu Rev Biochem"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1146\/annurev-genet-102108-134805","article-title":"Gene amplification and adaptive evolution in bacteria","volume":"43","author":"DI Andersson","year":"2009","journal-title":"Annu Rev Genet"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1126\/science.1197005","article-title":"Diversity of human copy number variation and multicopy genes","volume":"330","author":"PH Sudmant","year":"2010","journal-title":"Science"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1038\/342396a0","article-title":"The barrier to recombination between Escherichia coli and Salmonella typhimurium is disrupted in mismatch-repair mutants","volume":"342","author":"C Rayssiguier","year":"1989","journal-title":"Nature"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"e1000594","DOI":"10.1371\/journal.pbio.1000594","article-title":"Break-induced replication is highly inaccurate","volume":"9","author":"A Deem","year":"2011","journal-title":"PLoS Biol"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1038\/nature12584","article-title":"Migrating bubble during break-induced replication drives conservative DNA synthesis","volume":"502","author":"N Saini","year":"2013","journal-title":"Nature"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1038\/nature12585","article-title":"Pif1 helicase and Poldelta promote recombination-coupled DNA synthesis via bubble migration","volume":"502","author":"MA Wilson","year":"2013","journal-title":"Nature"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"1395","DOI":"10.1101\/gr.152454.112","article-title":"NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits","volume":"23","author":"P Dittwald","year":"2013","journal-title":"Genome Res"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"2876","DOI":"10.1101\/gad.1863009","article-title":"Nearby inverted repeats fuse to generate acentric and dicentric palindromic chromosomes by a replication template exchange mechanism","volume":"23","author":"K Mizuno","year":"2009","journal-title":"Genes Dev"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"e106","DOI":"10.1093\/nar\/gkr442","article-title":"Gene amplification system based on double rolling-circle replication as a model for oncogene-type amplification","volume":"39","author":"T Watanabe","year":"2011","journal-title":"Nucleic Acids Res"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/0165-1110(92)90009-X","article-title":"Molecular dissection of mammalian gene amplification: new mechanistic insights revealed by analyses of very early events","volume":"276","author":"BE Windle","year":"1992","journal-title":"Mutat Res"},{"key":"ref48","doi-asserted-by":"crossref","first-page":"1299","DOI":"10.1038\/nature04226","article-title":"A haplotype map of the human genome","volume":"437","year":"2005","journal-title":"Nature"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1016\/j.cell.2010.10.027","article-title":"A human genome structural variation sequencing resource reveals insights into mutational mechanisms","volume":"143","author":"JM Kidd","year":"2010","journal-title":"Cell"}],"container-title":["PLOS Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pgen.1005050","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,10,23]],"date-time":"2018-10-23T21:31:06Z","timestamp":1540330266000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pgen.1005050"}},"subtitle":[],"editor":[{"given":"Nancy B.","family":"Spinner","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2015,3,6]]},"references-count":49,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2015,3,6]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pgen.1005050","relation":{},"ISSN":["1553-7404"],"issn-type":[{"value":"1553-7404","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,3,6]]}}}