{"id":"https://openalex.org/W2078002199","doi":"https://doi.org/10.1074/jbc.m003816200","title":"Direct Regulation of the Microphthalmia Promoter by Sox10 Links Waardenburg-Shah Syndrome (WS4)-associated Hypopigmentation and Deafness to WS2","display_name":"Direct Regulation of the Microphthalmia Promoter by Sox10 Links Waardenburg-Shah Syndrome (WS4)-associated Hypopigmentation and Deafness to WS2","publication_year":2000,"publication_date":"2000-12-01","ids":{"openalex":"https://openalex.org/W2078002199","doi":"https://doi.org/10.1074/jbc.m003816200","mag":"2078002199","pmid":"https://pubmed.ncbi.nlm.nih.gov/10973953"},"language":"en","primary_location":{"id":"doi:10.1074/jbc.m003816200","doi":"https://doi.org/10.1074/jbc.m003816200","is_oa":true,"landing_page_url":"https://doi.org/10.1074/jbc.m003816200","pdf_url":"http://www.jbc.org/article/S0021925820885147/pdf","source":{"id":"https://openalex.org/S140251998","display_name":"Journal of Biological Chemistry","issn_l":"0021-9258","issn":["0021-9258","1067-8816","1083-351X"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-100","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Biological Chemistry","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"http://www.jbc.org/article/S0021925820885147/pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5026320810","display_name":"Melanie Lee","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I50863359","display_name":"Marie Curie","ror":"https://ror.org/02aqv1x10","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I50863359"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Melanie Lee","raw_affiliation_strings":["Eukaryotic Transcription Laboratory, Marie Curie Research Institute, The Chart, Oxted, Surrey RH8 OTL, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Eukaryotic Transcription Laboratory, Marie Curie Research Institute, The Chart, Oxted, Surrey RH8 OTL, United Kingdom","institution_ids":["https://openalex.org/I50863359"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005619823","display_name":"JANE C. GOODALL","orcid":"https://orcid.org/0000-0002-3761-161X","observed_orcids":["https://orcid.org/0000-0002-3761-161X"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I50863359","display_name":"Marie Curie","ror":"https://ror.org/02aqv1x10","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I50863359"]}],"countries":["FR","GB"],"is_corresponding":false,"raw_author_name":"Jane Goodall","raw_affiliation_strings":["Eukaryotic Transcription Laboratory, Marie Curie Research Institute, The Chart, Oxted, Surrey RH8 OTL, United Kingdom","Inserm, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Eukaryotic Transcription Laboratory, Marie Curie Research Institute, The Chart, Oxted, Surrey RH8 OTL, United Kingdom","institution_ids":["https://openalex.org/I50863359"]},{"raw_affiliation_string":"Inserm, Paris, France","institution_ids":["https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082670604","display_name":"Carole Verastegui","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I50863359","display_name":"Marie Curie","ror":"https://ror.org/02aqv1x10","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I50863359"]}],"countries":["FR","GB"],"is_corresponding":false,"raw_author_name":"Carole Verastegui","raw_affiliation_strings":["From the Eukaryotic Transcription Laboratory , Marie Curie Research Institute , The Chart , Oxted , Surrey RH8 OTL , United Kingdom","Inserm, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Eukaryotic Transcription Laboratory , Marie Curie Research Institute , The Chart , Oxted , Surrey RH8 OTL , United Kingdom","institution_ids":["https://openalex.org/I50863359"]},{"raw_affiliation_string":"Inserm, Paris, France","institution_ids":["https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064301315","display_name":"Robert Ballotti","orcid":"https://orcid.org/0000-0002-7322-4908","observed_orcids":["https://orcid.org/0000-0002-7322-4908"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Robert Ballotti","raw_affiliation_strings":["and \u2021INSERM U385 , Biologie et Physiopathologie de la Peau , Faculte \u00b4de Me \u00b4decine , Avenue de Valombrose , Nice , 06107 Cedex , France","Inserm, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"and \u2021INSERM U385 , Biologie et Physiopathologie de la Peau , Faculte \u00b4de Me \u00b4decine , Avenue de Valombrose , Nice , 06107 Cedex , France","institution_ids":["https://openalex.org/I154526488"]},{"raw_affiliation_string":"Inserm, Paris, France","institution_ids":["https://openalex.org/I154526488"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5002433296","display_name":"Colin R. Goding","orcid":"https://orcid.org/0000-0002-1614-3909","observed_orcids":["https://orcid.org/0000-0002-1614-3909"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I50863359","display_name":"Marie Curie","ror":"https://ror.org/02aqv1x10","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I50863359"]}],"countries":["FR","GB"],"is_corresponding":true,"raw_author_name":"Colin R. Goding","raw_affiliation_strings":["Eukaryotic Transcription Laboratory, Marie Curie Research Institute, The Chart, Oxted, Surrey RH8 OTL, United Kingdom","Inserm, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Eukaryotic Transcription Laboratory, Marie Curie Research Institute, The Chart, Oxted, Surrey RH8 OTL, United Kingdom","institution_ids":["https://openalex.org/I50863359"]},{"raw_affiliation_string":"Inserm, Paris, France","institution_ids":["https://openalex.org/I154526488"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5002433296"],"corresponding_institution_ids":["https://openalex.org/I154526488","https://openalex.org/I50863359"],"apc_list":{"value":3430,"currency":"USD","value_usd":3430},"apc_paid":{"value":3430,"currency":"USD","value_usd":3430},"fwci":3.9389,"has_fulltext":true,"cited_by_count":165,"citation_normalized_percentile":{"value":0.93980344,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"275","issue":"48","first_page":"37978","last_page":"37983"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11144","display_name":"melanin and skin pigmentation","score":0.9779999852180481,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11144","display_name":"melanin and skin pigmentation","score":0.9779999852180481,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10268","display_name":"Developmental Biology and Gene Regulation","score":0.004399999976158142,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12237","display_name":"Congenital gastrointestinal and neural anomalies","score":0.0027000000700354576,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/sox10","display_name":"SOX10","score":0.9980000257492065},{"id":"https://openalex.org/keywords/mitf","display_name":"MITF","score":0.8489999771118164},{"id":"https://openalex.org/keywords/transcriptional-activation","display_name":"transcriptional activation","score":0.7110000252723694},{"id":"https://openalex.org/keywords/melanocyte-development","display_name":"melanocyte development","score":0.8970000147819519},{"id":"https://openalex.org/keywords/hypopigmentation","display_name":"hypopigmentation","score":0.9779999852180481},{"id":"https://openalex.org/keywords/deafness","display_name":"deafness","score":0.9890000224113464},{"id":"https://openalex.org/keywords/dominant-negative-mutation","display_name":"dominant negative mutation","score":0.5059999823570251}],"concepts":[{"id":"https://openalex.org/C177504595","wikidata":"https://www.wikidata.org/wiki/Q336500","display_name":"Microphthalmia-associated transcription factor","level":4,"score":0.9889653921127319},{"id":"https://openalex.org/C2777302934","wikidata":"https://www.wikidata.org/wiki/Q18031655","display_name":"SOX10","level":4,"score":0.9522080421447754},{"id":"https://openalex.org/C2777259899","wikidata":"https://www.wikidata.org/wiki/Q1151801","display_name":"Waardenburg syndrome","level":4,"score":0.8640704154968262},{"id":"https://openalex.org/C2776291823","wikidata":"https://www.wikidata.org/wiki/Q1291366","display_name":"Hypopigmentation","level":2,"score":0.6428507566452026},{"id":"https://openalex.org/C2778085061","wikidata":"https://www.wikidata.org/wiki/Q1557239","display_name":"Microphthalmia","level":3,"score":0.6246551275253296},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6077709197998047},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6021212339401245},{"id":"https://openalex.org/C86339819","wikidata":"https://www.wikidata.org/wiki/Q407384","display_name":"Transcription factor","level":3,"score":0.5823996663093567},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3098129630088806},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.08151933550834656}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003638","descriptor_name":"Deafness","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D005786","descriptor_name":"Gene Expression Regulation","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D006609","descriptor_name":"High Mobility Group Proteins","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D010859","descriptor_name":"Pigmentation Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011401","descriptor_name":"Promoter Regions, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014407","descriptor_name":"Tumor Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014849","descriptor_name":"Waardenburg Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017931","descriptor_name":"DNA Primers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051739","descriptor_name":"Microphthalmia-Associated Transcription Factor","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055757","descriptor_name":"SOXE Transcription Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1074/jbc.m003816200","doi":"https://doi.org/10.1074/jbc.m003816200","is_oa":true,"landing_page_url":"https://doi.org/10.1074/jbc.m003816200","pdf_url":"http://www.jbc.org/article/S0021925820885147/pdf","source":{"id":"https://openalex.org/S140251998","display_name":"Journal of Biological Chemistry","issn_l":"0021-9258","issn":["0021-9258","1067-8816","1083-351X"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-100","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Biological Chemistry","raw_type":"journal-article"},{"id":"pmid:10973953","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10973953","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of biological chemistry","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1074/jbc.m003816200","doi":"https://doi.org/10.1074/jbc.m003816200","is_oa":true,"landing_page_url":"https://doi.org/10.1074/jbc.m003816200","pdf_url":"http://www.jbc.org/article/S0021925820885147/pdf","source":{"id":"https://openalex.org/S140251998","display_name":"Journal of Biological Chemistry","issn_l":"0021-9258","issn":["0021-9258","1067-8816","1083-351X"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-100","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Biological Chemistry","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.4043000042438507,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320320217","display_name":"Marie Curie","ror":"https://ror.org/02aqv1x10"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2078002199.pdf","grobid_xml":"https://content.openalex.org/works/W2078002199.grobid-xml"},"referenced_works_count":39,"referenced_works":["https://openalex.org/W1487917997","https://openalex.org/W1520755299","https://openalex.org/W1579338000","https://openalex.org/W1937095862","https://openalex.org/W1949372270","https://openalex.org/W1958675029","https://openalex.org/W1963652662","https://openalex.org/W1983724781","https://openalex.org/W1989215255","https://openalex.org/W1997830187","https://openalex.org/W1999993218","https://openalex.org/W2000146676","https://openalex.org/W2018139276","https://openalex.org/W2023002592","https://openalex.org/W2026533505","https://openalex.org/W2038510087","https://openalex.org/W2069358836","https://openalex.org/W2070987304","https://openalex.org/W2072910804","https://openalex.org/W2074170762","https://openalex.org/W2075990052","https://openalex.org/W2081462173","https://openalex.org/W2086042306","https://openalex.org/W2086538740","https://openalex.org/W2087447340","https://openalex.org/W2090636859","https://openalex.org/W2098342899","https://openalex.org/W2107006976","https://openalex.org/W2118031242","https://openalex.org/W2128963294","https://openalex.org/W2130987003","https://openalex.org/W2134254169","https://openalex.org/W2138618430","https://openalex.org/W2141934953","https://openalex.org/W2143051878","https://openalex.org/W2145297890","https://openalex.org/W2148670691","https://openalex.org/W2153649171","https://openalex.org/W2162997202"],"related_works":["https://openalex.org/W2162497387","https://openalex.org/W1997889534","https://openalex.org/W1989324733","https://openalex.org/W2164927488","https://openalex.org/W2068523231","https://openalex.org/W2026321840","https://openalex.org/W2125216530","https://openalex.org/W2250023333","https://openalex.org/W2118029241","https://openalex.org/W2037667120"],"abstract_inverted_index":{"The":[0,24,102],"transcription":[1,49,70,108],"factor":[2,50],"Sox10":[3,65,81,105,114],"is":[4],"genetically":[5,83],"linked":[6,84],"with":[7,39,85,132],"Waardenburg":[8],"syndrome":[9],"4":[10],"(WS4)":[11],"in":[12,28,41,115],"humans":[13],"and":[14,32,68,95,121,129],"the":[15,29,42,53,56,72,80,110,116,127],"Dominant":[16],"megacolon":[17],"(Dom)":[18],"mouse":[19,31],"model":[20],"for":[21,52,126],"this":[22],"disease.":[23],"pigmentary":[25],"defects":[26],"observed":[27],"Dom":[30],"WS4":[33,86],"are":[34],"reminiscent":[35],"of":[36,55,71,79,92,104,109,118],"those":[37],"associated":[38,131],"mutations":[40],"microphthalmia":[43],"(Mitf)":[44],"gene,":[45],"which":[46],"encodes":[47],"a":[48,76,89,123],"essential":[51],"development":[54,120],"melanocyte":[57,119],"lineage.":[58],"We":[59],"demonstrate":[60],"here":[61],"that":[62],"wild":[63],"type":[64],"directly":[66],"binds":[67],"activates":[69],"MITF":[73,93,99,111],"promoter,":[74],"whereas":[75],"mutant":[77],"form":[78],"protein":[82,100],"acts":[87],"as":[88],"dominant-negative":[90],"repressor":[91],"expression":[94],"can":[96],"reduce":[97],"endogenous":[98],"levels.":[101],"ability":[103],"to":[106],"activate":[107],"promoter":[112],"implicates":[113],"regulation":[117],"provides":[122],"molecular":[124],"basis":[125],"hypopigmentation":[128],"deafness":[130],"WS4.":[133]},"counts_by_year":[{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":8},{"year":2018,"cited_by_count":8},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":7},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":5},{"year":2012,"cited_by_count":6}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
