{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T05:53:06Z","timestamp":1790401986202,"version":"4.1.0"},"reference-count":56,"publisher":"Oxford University Press (OUP)","issue":"16","license":[{"start":{"date-parts":[[2018,5,16]],"date-time":"2018-05-16T00:00:00Z","timestamp":1526428800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,8,15]]},"DOI":"10.1093\/hmg\/ddy191","type":"journal-article","created":{"date-parts":[[2018,5,11]],"date-time":"2018-05-11T19:09:59Z","timestamp":1526065799000},"page":"2830-2839","source":"Crossref","is-referenced-by-count":28,"title":["Regulation of the neuropathy-associated Pmp22 gene by a distal super-enhancer"],"prefix":"10.1093","volume":"27","author":[{"given":"Harrison","family":"Pantera","sequence":"first","affiliation":[{"name":"Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA"},{"name":"Molecular and Cellular Pharmacology Graduate Program, University of Wisconsin-Madison, Madison, WI 53705, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John J","family":"Moran","sequence":"additional","affiliation":[{"name":"Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holly A","family":"Hung","sequence":"additional","affiliation":[{"name":"Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evgenia","family":"Pak","sequence":"additional","affiliation":[{"name":"Cytogenetics and Microscopy Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amalia","family":"Dutra","sequence":"additional","affiliation":[{"name":"Cytogenetics and Microscopy Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2963-7921","authenticated-orcid":false,"given":"John","family":"Svaren","sequence":"additional","affiliation":[{"name":"Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA"},{"name":"Department of Comparative Biosciences, University of Wisconsin-Madison, Madison, WI 53705, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2018,5,16]]},"reference":[{"key":"key\n\t\t\t\t20180803114946_ddy191-B1","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1016\/j.conb.2006.08.008","article-title":"Axonal regulation of myelination by neuregulin 1","volume":"16","author":"Nave","year":"2006","journal-title":"Curr. Opin. Neurobiol"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B2","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1016\/j.neuron.2005.08.017","article-title":"Neuregulin-1 type III determines the ensheathment fate of axons","volume":"47","author":"Taveggia","year":"2005","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B3","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/0014-4886(91)90124-U","article-title":"Regeneration of axons from adult human retina in vitro","volume":"112","author":"Hopkins","year":"1991","journal-title":"Exp. Neurol"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B4","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1038\/nrn1196","article-title":"Disease mechanisms in inherited neuropathies","volume":"4","author":"Suter","year":"2003","journal-title":"Nat. Rev. Neurosci"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B5","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1111\/j.1399-0004.1974.tb00638.x","article-title":"Genetic and clinical aspects of Charcot-Marie-Tooth's disease","volume":"6","author":"Skre","year":"1974","journal-title":"Clin. Genet"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B6","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":"Lupski","year":"1991","journal-title":"Cell"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B7","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/0960-8966(91)90055-W","article-title":"Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group","volume":"1","author":"Raeymaekers","year":"1991","journal-title":"Neuromuscul. Disord"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B8","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1083\/jcb.117.1.225","article-title":"Characterization of a novel peripheral nervous system myelin protein (PMP-22\/SR13)","volume":"117","author":"Snipes","year":"1992","journal-title":"J. Cell Biol"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B9","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1038\/ng0692-159","article-title":"The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A","volume":"1","author":"Patel","year":"1992","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B10","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/0092-8674(93)90058-X","article-title":"DNA deletion associated with hereditary neuropathy with liability to pressure palsies","volume":"72","author":"Chance","year":"1993","journal-title":"Cell"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B11","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1016\/S0896-6273(00)80128-2","article-title":"A transgenic rat model of Charcot-Marie-Tooth disease","volume":"16","author":"Sereda","year":"1996","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B12","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1038\/ng1195-274","article-title":"Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice","volume":"11","author":"Adlkofer","year":"1995","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B13","doi-asserted-by":"crossref","first-page":"4662","DOI":"10.1523\/JNEUROSCI.17-12-04662.1997","article-title":"Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy","volume":"17","author":"Adlkofer","year":"1997","journal-title":"J. Neurosci"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B14","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1002\/ana.24086","article-title":"Abnormal junctions and permeability of myelin in PMP22-deficient nerves","volume":"75","author":"Guo","year":"2014","journal-title":"Ann. Neurol"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B15","doi-asserted-by":"crossref","first-page":"1533","DOI":"10.1038\/nm957","article-title":"Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A)","volume":"9","author":"Sereda","year":"2003","journal-title":"Nat. Med"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B16","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1038\/nm1023","article-title":"Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease","volume":"10","author":"Passage","year":"2004","journal-title":"Nat. Med"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B17","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1093\/hmg\/10.10.1007","article-title":"Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A","volume":"10","author":"Perea","year":"2001","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B18","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1172\/JCI96499","article-title":"PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models","volume":"128","author":"Zhao","year":"2017","journal-title":"J. Clin. Invest"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B19","doi-asserted-by":"crossref","first-page":"2594","DOI":"10.1021\/cb5005492","article-title":"Genome editing-enabled HIS assays expand drug target pathways for Charcot-Marie-Tooth disease","volume":"9","author":"Inglese","year":"2014","journal-title":"ACS Chem. Biol"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B20","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1021\/cb300048d","article-title":"Identification of drug modulators targeting gene-dosage disease CMT1A","volume":"7","author":"Jang","year":"2012","journal-title":"ACS. Chem. Biol"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B21","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1006\/mcne.2002.1116","article-title":"Identification of the regulatory region of the peripheral myelin protein 22 (PMP22) gene that directs temporal and spatial expression in development and regeneration of peripheral nerves","volume":"20","author":"Maier","year":"2002","journal-title":"Mol. Cell. Neurosci"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B22","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1016\/S1044-7431(03)00246-X","article-title":"Distinct elements of the peripheral myelin protein 22 (PMP22) promoter regulate expression in Schwann cells and sensory neurons","volume":"24","author":"Maier","year":"2003","journal-title":"Mol. Cell. Neurosci"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B23","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1038\/ejhg.2009.186","article-title":"Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease","volume":"18","author":"Weterman","year":"2010","journal-title":"Eur. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B24","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1016\/j.ajhg.2010.05.001","article-title":"Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability","volume":"86","author":"Zhang","year":"2010","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B25","doi-asserted-by":"crossref","first-page":"1897","DOI":"10.1002\/glia.22855","article-title":"Differential Sox10 genomic occupancy in myelinating glia","volume":"63","author":"Lopez-Anido","year":"2015","journal-title":"Glia"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B26","doi-asserted-by":"crossref","first-page":"6937","DOI":"10.1074\/jbc.M114.622878","article-title":"Dynamic regulation of Schwann cell enhancers after peripheral nerve injury","volume":"290","author":"Hung","year":"2015","journal-title":"J. Biol. Chem"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B27","doi-asserted-by":"crossref","first-page":"21931","DOI":"10.1073\/pnas.1016071107","article-title":"Histone H3K27ac separates active from poised enhancers and predicts developmental state","volume":"107","author":"Creyghton","year":"2010","journal-title":"Proc. Natl. Acad. Sci. U. S. A"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B28","doi-asserted-by":"crossref","first-page":"6449","DOI":"10.1093\/nar\/gks313","article-title":"Genome-wide analysis of EGR2\/SOX10 binding in myelinating peripheral nerve","volume":"40","author":"Srinivasan","year":"2012","journal-title":"Nucleic Acids Res"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B29","first-page":"3055","article-title":"Tead1 regulates the expression of Peripheral Myelin Protein 22 during Schwann cell development","volume":"25","author":"Lopez-Anido","year":"2016","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B30","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1101\/gad.186601","article-title":"The transcription factor Sox10 is a key regulator of peripheral glial development","volume":"15","author":"Britsch","year":"2001","journal-title":"Genes Dev"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B31","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1083\/jcb.200912142","article-title":"Sox10 is required for Schwann cell identity and progression beyond the immature Schwann cell stage","volume":"189","author":"Finzsch","year":"2010","journal-title":"J. Cell. Biol"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B32","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1038\/371796a0","article-title":"Krox-20 controls myelination in the peripheral nervous system","volume":"371","author":"Topilko","year":"1994","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B33","doi-asserted-by":"crossref","first-page":"2596","DOI":"10.1073\/pnas.0407836102","article-title":"Analysis of congenital hypomyelinating Egr2Lo\/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination","volume":"102","author":"Le","year":"2005","journal-title":"Proc. Natl. Acad. Sci. U. S. A"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B34","doi-asserted-by":"crossref","first-page":"1678","DOI":"10.1111\/j.1471-4159.2006.04069.x","article-title":"In vivo detection of Egr2 binding to target genes during peripheral nerve myelination","volume":"98","author":"Jang","year":"2006","journal-title":"J. Neurochem"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B35","doi-asserted-by":"crossref","first-page":"20111","DOI":"10.1074\/jbc.M109.022426","article-title":"Induction of myelin protein zero by early growth response 2 through upstream and intragenic elements","volume":"284","author":"Jang","year":"2009","journal-title":"J. Biol. Chem"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B36","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1016\/j.neuron.2012.06.021","article-title":"c-Jun reprograms Schwann cells of injured nerves to generate a repair cell essential for regeneration","volume":"75","author":"Arthur-Farraj","year":"2012","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B37","doi-asserted-by":"crossref","first-page":"1581","DOI":"10.1093\/hmg\/ddr595","article-title":"Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22","volume":"21","author":"Jones","year":"2012","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B38","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/j.cell.2013.03.035","article-title":"Master transcription factors and mediator establish super-enhancers at key cell identity genes","volume":"153","author":"Whyte","year":"2013","journal-title":"Cell"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B39","doi-asserted-by":"crossref","first-page":"9135","DOI":"10.1523\/JNEUROSCI.1370-16.2016","article-title":"Epigenomic Regulation of Schwann Cell Reprogramming in Peripheral Nerve Injury","volume":"36","author":"Ma","year":"2016","journal-title":"J. Neurosci"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B40","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1038\/ng1966","article-title":"Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome","volume":"39","author":"Heintzman","year":"2007","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B41","doi-asserted-by":"crossref","first-page":"e114485.","DOI":"10.1371\/journal.pone.0114485","article-title":"CRISPR reveals a distal super-enhancer required for Sox2 expression in mouse embryonic stem cells","volume":"9","author":"Li","year":"2014","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B42","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1002\/jnr.10327","article-title":"Comparative analysis of Schwann cell lines as model systems for myelin gene transcription studies","volume":"69","author":"Hai","year":"2002","journal-title":"J. Neurosci. Res"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B43","doi-asserted-by":"crossref","first-page":"5453","DOI":"10.1074\/jbc.M512159200","article-title":"Direct regulation of myelin protein zero expression by the Egr2 transactivator","volume":"281","author":"LeBlanc","year":"2006","journal-title":"J. Biol. Chem"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B44","doi-asserted-by":"crossref","first-page":"4242","DOI":"10.1523\/JNEUROSCI.5893-10.2011","article-title":"Regulation of the PMP22 Gene through an Intronic Enhancer","volume":"31","author":"Jones","year":"2011","journal-title":"J. Neurosci"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B45","doi-asserted-by":"crossref","first-page":"1354","DOI":"10.1111\/j.1471-4159.1991.tb11432.x","article-title":"Expression of the myelin-associated glycoprotein in cultures of immortalized Schwann cells","volume":"56","author":"Goda","year":"1991","journal-title":"J. Neurochem"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B46","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1038\/nbt1087","article-title":"Stable antibody expression at therapeutic levels using the 2A peptide","volume":"23","author":"Fang","year":"2005","journal-title":"Nat. Biotechnol"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B47","doi-asserted-by":"crossref","first-page":"25795","DOI":"10.1016\/S0021-9258(18)47318-8","article-title":"Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters","volume":"269","author":"Suter","year":"1994","journal-title":"J. Biol. Chem"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B48","doi-asserted-by":"crossref","first-page":"1573","DOI":"10.1016\/j.cell.2017.11.008","article-title":"YY1 is a structural regulator of enhancer-promoter loops","volume":"171","author":"Weintraub","year":"2017","journal-title":"Cell"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B49","doi-asserted-by":"crossref","first-page":"1472","DOI":"10.1038\/nn.2686","article-title":"Yy1 as a molecular link between neuregulin and transcriptional modulation of peripheral myelination","volume":"13","author":"He","year":"2010","journal-title":"Nat. Neurosci"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B50","doi-asserted-by":"crossref","first-page":"1658","DOI":"10.1101\/gr.136838.111","article-title":"Understanding transcriptional regulation by integrative analysis of transcription factor binding data","volume":"22","author":"Cheng","year":"2012","journal-title":"Genome Res"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B51","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1038\/nature11245","article-title":"Architecture of the human regulatory network derived from ENCODE data","volume":"489","author":"Gerstein","year":"2012","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B52","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1038\/nmeth.2812","article-title":"E-CRISP: fast CRISPR target site identification","volume":"11","author":"Heigwer","year":"2014","journal-title":"Nat. Methods"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B53","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1126\/science.1231143","article-title":"Multiplex genome engineering using CRISPR\/Cas systems","volume":"339","author":"Cong","year":"2013","journal-title":"Science"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B54","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1006\/meth.2001.1262","article-title":"Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method","volume":"25","author":"Livak","year":"2001","journal-title":"Methods"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B55","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1126\/science.273.5274.494","article-title":"Multicolor spectral karyotyping of human chromosomes","volume":"273","author":"Schr\u00f6ck","year":"1996","journal-title":"Science"},{"key":"key\n\t\t\t\t20180803114946_ddy191-B56","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1159\/000076306","article-title":"Multicolor spectral karyotyping of rat chromosomes","volume":"103","author":"Buwe","year":"2003","journal-title":"Cytogenet. Genome. Res"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/27\/16\/2830\/25428252\/ddy191.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,23]],"date-time":"2022-08-23T15:08:28Z","timestamp":1661267308000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/27\/16\/2830\/4996744"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,5,16]]},"references-count":56,"journal-issue":{"issue":"16","published-online":{"date-parts":[[2018,5,16]]},"published-print":{"date-parts":[[2018,8,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddy191","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2018,8,15]]},"published":{"date-parts":[[2018,5,16]]}}}