{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:36:50Z","timestamp":1791329810510,"version":"4.3.1"},"reference-count":44,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2002,10,1]],"date-time":"2002-10-01T00:00:00Z","timestamp":1033430400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":3944,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2002,10]]},"DOI":"10.1086\/342728","type":"journal-article","created":{"date-parts":[[2002,10,8]],"date-time":"2002-10-08T20:15:19Z","timestamp":1034108119000},"page":"838-853","source":"Crossref","is-referenced-by-count":136,"title":["Genomic Rearrangements Resulting in PLP1 Deletion Occur by Nonhomologous End Joining and Cause Different Dysmyelinating Phenotypes in Males and Females"],"prefix":"10.1016","volume":"71","author":[{"given":"Ken","family":"Inoue","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitoshi","family":"Osaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia C.","family":"Thurston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joe T.R.","family":"Clarke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Yoneyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Rosenbarker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas D.","family":"Bird","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.E.","family":"Hodes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa G.","family":"Shaffer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R.","family":"Lupski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/342728_bib11","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1086\/342728_bib12","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1212\/WNL.39.4.465","article-title":"Molecular and clinical correlation of deletion leading to Duchenne and Becker muscular dystrophies","volume":"39","author":"Baumbach","year":"1989","journal-title":"Neurology"},{"key":"10.1086\/342728_bib13","doi-asserted-by":"crossref","first-page":"2075","DOI":"10.1126\/science.1062329","article-title":"Telomere position effect in human cells","volume":"292","author":"Baur","year":"2001","journal-title":"Science"},{"key":"10.1086\/342728_bib14","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1101\/gr.188901","article-title":"Segmental duplications: what's missing, misassigned, and misassembled\u2014and should we care?","volume":"11","author":"Eichler","year":"2001","journal-title":"Genome Res"},{"key":"10.1086\/342728_bib15","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1038\/ng0494-333","article-title":"Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease","volume":"6","author":"Ellis","year":"1994","journal-title":"Nat Genet"},{"key":"10.1086\/342728_bib16","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1038\/35093500","article-title":"Segmental duplications: an \u201cexpanding\u201d role in genomic instability and disease","volume":"2","author":"Emanuel","year":"2001","journal-title":"Nat Rev Genet"},{"key":"10.1086\/342728_bib17","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1126\/science.271.5252.1123","article-title":"Locus control region function and heterochromatin-induced position effect variegation","volume":"271","author":"Festenstein","year":"1996","journal-title":"Science"},{"key":"10.1086\/342728_bib18","doi-asserted-by":"crossref","first-page":"1210","DOI":"10.1001\/archneur.56.10.1210","article-title":"The molecular pathogenesis of Pelizaeus-Merzbacher disease","volume":"56","author":"Garbern","year":"1999","journal-title":"Arch Neurol"},{"key":"10.1086\/342728_bib19","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/S0896-6273(00)80360-8","article-title":"Proteolipid protein is necessary in peripheral as well as central myelin","volume":"19","author":"Garbern","year":"1997","journal-title":"Neuron"},{"key":"10.1086\/342728_bib20","doi-asserted-by":"crossref","first-page":"1610","DOI":"10.1126\/science.280.5369.1610","article-title":"Axonal swellings and degeneration in mice lacking the major proteolipid of myelin","volume":"280","author":"Griffiths","year":"1998","journal-title":"Science"},{"key":"10.1086\/342728_bib21","doi-asserted-by":"crossref","first-page":"975","DOI":"10.1016\/0092-8674(87)90584-8","article-title":"Position-independent, high-level expression of the human \u03b2-globin gene in transgenic mice","volume":"51","author":"Grosveld","year":"1987","journal-title":"Cell"},{"key":"10.1086\/342728_bib22","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1086\/302965","article-title":"Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome","volume":"67","author":"Hodes","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1086\/342728_bib23","doi-asserted-by":"crossref","first-page":"2471","DOI":"10.1002\/j.1460-2075.1991.tb07786.x","article-title":"Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination","volume":"10","author":"Hu","year":"1991","journal-title":"EMBO J"},{"key":"10.1086\/342728_bib24","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1093\/nar\/30.1.38","article-title":"The Ensembl genome database project","volume":"30","author":"Hubbard","year":"2002","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/342728_bib25","series-title":"The metabolic and molecular basis of inherited diseases","first-page":"5789","article-title":"Pelizaeus-Merzbacher disease and the allelic disorder X-linked spastic paraplegia type 2","author":"Hudson","year":"2001"},{"key":"10.1086\/342728_bib26","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/S1357-2725(00)00087-X","article-title":"\u03b2-Thymosins, small acidic peptides with multiple functions","volume":"33","author":"Huff","year":"2001","journal-title":"Int J Biochem Cell Biol"},{"key":"10.1086\/342728_bib27","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1159\/000111281","article-title":"Transgenic systems in studying myelin gene expression","volume":"17","author":"Ikenaka","year":"1995","journal-title":"Dev Neurosci"},{"key":"10.1086\/342728_bib28","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1101\/gr.180401","article-title":"The 1.4-Mb CMT1A duplication\/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes","volume":"11","author":"Inoue","year":"2001","journal-title":"Genome Res"},{"key":"10.1086\/342728_bib29","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1146\/annurev.genom.3.032802.120023","article-title":"Molecular mechanisms for genomic disorders","volume":"3","author":"Inoue","year":"2002","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"10.1086\/342728_bib30","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":"Inoue","year":"1999","journal-title":"Ann Neurol"},{"key":"10.1086\/342728_bib31","first-page":"32","article-title":"A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR","volume":"59","author":"Inoue","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1086\/342728_bib32","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1002\/ana.10036","article-title":"Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement","volume":"50","author":"Inoue","year":"2001","journal-title":"Ann Neurol"},{"key":"10.1086\/342728_bib33","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1101\/gr.229202. Article published online before March 2002","article-title":"BLAT\u2014the BLAST-like alignment tool","volume":"12","author":"Kent","year":"2002","journal-title":"Genome Res"},{"key":"10.1086\/342728_bib34","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1038\/306662a0","article-title":"\u03b2-Globin gene inactivation by DNA translocation in \u03b3\u03b2-thalassaemia","volume":"306","author":"Kioussis","year":"1983","journal-title":"Nature"},{"key":"10.1086\/342728_bib35","doi-asserted-by":"crossref","first-page":"1611","DOI":"10.1093\/hmg\/7.10.1611","article-title":"Position effect in human genetic disease","volume":"7","author":"Kleinjan","year":"1998","journal-title":"Hum Mol Genet"},{"key":"10.1086\/342728_bib36","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/S0896-6273(01)80046-5","article-title":"Assembly of CNS myelin in the absence of proteolipid protein","volume":"18","author":"Klugmann","year":"1997","journal-title":"Neuron"},{"key":"10.1086\/342728_bib37","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/S0168-9525(98)01555-8","article-title":"Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits","volume":"14","author":"Lupski","year":"1998","journal-title":"Trends Genet"},{"key":"10.1086\/342728_bib38","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/S0092-8674(00)81327-6","article-title":"Heterochromatin effects on the frequency and duration of LCR-mediated gene transcription","volume":"87","author":"Milot","year":"1996","journal-title":"Cell"},{"key":"10.1086\/342728_bib39","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1007\/BF00207388","article-title":"Dinucleotide repeat polymorphism in the proteolipoprotein (PLP) gene","volume":"96","author":"Mimault","year":"1995","journal-title":"Hum Genet"},{"key":"10.1086\/342728_bib40","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1002\/1531-8249(199901)45:1<59::AID-ART11>3.0.CO;2-3","article-title":"Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity","volume":"45","author":"Osaka","year":"1999","journal-title":"Ann Neurol"},{"key":"10.1086\/342728_bib41","first-page":"1355","article-title":"Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease","volume":"49","author":"Raskind","year":"1991","journal-title":"Am J Hum Genet"},{"key":"10.1086\/342728_bib42","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1101\/gr.10.4.577","article-title":"PipMaker\u2014a web server for aligning two genomic DNA sequences","volume":"10","author":"Schwartz","year":"2000","journal-title":"Genome Res"},{"key":"10.1086\/342728_bib43","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1007\/s100380070025","article-title":"cDNA cloning of a new member of the Ras superfamily, RAB9-like, on the human chromosome Xq22.1-q22.3 region","volume":"45","author":"Seki","year":"2000","journal-title":"J Hum Genet"},{"key":"10.1086\/342728_bib44","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1002\/(SICI)1096-8628(19970331)69:3<325::AID-AJMG20>3.0.CO;2-S","article-title":"Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory","volume":"69","author":"Shaffer","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1086\/342728_bib45","doi-asserted-by":"crossref","first-page":"1749","DOI":"10.1212\/WNL.50.6.1749","article-title":"Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease","volume":"50","author":"Sistermans","year":"1998","journal-title":"Neurology"},{"key":"10.1086\/342728_bib46","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1007\/BF02185767","article-title":"A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family","volume":"97","author":"Sistermans","year":"1996","journal-title":"Hum Genet"},{"key":"10.1086\/342728_bib47","first-page":"327","article-title":"Molecular and cytogenetic characterization of translocations involving 22q11","volume":"69","author":"Spiteri","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1086\/342728_bib48","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/S0168-9525(02)02592-1","article-title":"Genome architecture, rearrangements and genomic disorders","volume":"18","author":"Stankiewicz","year":"2002","journal-title":"Trends Genet"},{"key":"10.1086\/342728_bib49","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1016\/S0959-437X(02)00304-0","article-title":"Molecular-evolutionary mechanisms for genomic disorders","volume":"12","author":"Stankiewicz","year":"2002","journal-title":"Curr Opin Genet Dev"},{"key":"10.1086\/342728_bib50","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1016\/S0092-8674(00)81159-9","article-title":"Beyond the nucleosome: epigenetic aspects of position-effect variegation in Drosophila.","volume":"93","author":"Wakimoto","year":"1998","journal-title":"Cell"},{"key":"10.1086\/342728_bib51","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1083\/jcb.123.2.443","article-title":"A myelin proteolipid protein-LacZ fusion protein is developmentally regulated and targeted to the myelin membrane in transgenic mice","volume":"123","author":"Wight","year":"1993","journal-title":"J Cell Biol"},{"key":"10.1086\/342728_bib52","series-title":"The metabolic and molecular basis of inherited diseases","first-page":"1191","article-title":"The sex chromosomes and X chromosome inactivation","author":"Willard","year":"2001"},{"key":"10.1086\/342728_bib53","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1086\/301933","article-title":"Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH","volume":"63","author":"Woodward","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1086\/342728_bib54","doi-asserted-by":"crossref","first-page":"2614","DOI":"10.1093\/nar\/24.13.2614","article-title":"DOP-vector PCR: a method for rapid isolation and sequencing of insert termini from PAC clones","volume":"24","author":"Wu","year":"1996","journal-title":"Nucleic Acids Res"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707603693?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707603693?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,3,10]],"date-time":"2020-03-10T04:45:58Z","timestamp":1583815558000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707603693"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,10]]},"references-count":44,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2002,10]]}},"alternative-id":["S0002929707603693"],"URL":"https:\/\/doi.org\/10.1086\/342728","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2002,10]]}}}