{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T17:22:28Z","timestamp":1791134548695,"version":"4.1.0"},"reference-count":44,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2002,5,22]],"date-time":"2002-05-22T00:00:00Z","timestamp":1022025600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pigment Cell Research"],"published-print":{"date-parts":[[2002,6]]},"abstract":"<jats:p>Waardenburg syndrome (WS) is characterized by deafness and hypopigmentation because of the lack of melanocytes in the inner ear and skin. WS type 2 is associated with mutations in the gene encoding microphthalmia\u2010associated transcription factor (MITF) that is required for melanocyte differentiation. MITF consists of multiple isoforms with different N\u2010termini, one of which is exclusively expressed in melanocytes, named MITF\u2010M. Its N\u2010terminus is encoded by exon 1M that is under the regulation of the melanocyte\u2010specific (M) promoter. Here we identify a distal regulatory region of 298\u2003bp, located 14.5\u2003kb upstream from exon 1M, which enhances the M promoter activity in cultured melanoma cells. This enhancer activity depends on the proximal M promoter region (\u2212120 to \u221246). The MITF\u2010M distal enhancer (MDE), thus identified, contains the binding sites for SOX10, a transcription factor responsible for another type of WS, known as Waardenburg\u2013Hirschsprung syndrome. Characterization of MDE has suggested SOX10 as one of factors that are involved in the function of MDE. A putative MDE counterpart is located 12\u2003kb upstream from mouse exon 1M and its role is discussed in relevance to the pathogenesis of red\u2010eyed white <jats:italic>Mitf<jats:sup>\u2003mi\u2013rw<\/jats:sup><\/jats:italic> mice that exhibit small red eyes and white coat. Moreover, by in situ hybridization analysis, we suggest that Sox10 and Mitf\u2010M (mRNA) are expressed in melanoblasts migrating toward the otic vesicle (prospective inner ear) of mouse embryos but are separately expressed in different cell types of the newborn cochlea. Thus, SOX10 regulates transcription from the M promoter in a developmental stage\u2010specific manner.<\/jats:p>","DOI":"10.1034\/j.1600-0749.2002.01080.x","type":"journal-article","created":{"date-parts":[[2003,3,12]],"date-time":"2003-03-12T16:36:37Z","timestamp":1047486997000},"page":"201-211","source":"Crossref","is-referenced-by-count":61,"title":["Identification of a Distal Enhancer for the Melanocyte\u2010Specific Promoter of the MITF Gene"],"prefix":"10.1111","volume":"15","author":[{"given":"Ken\u2010ichi","family":"Watanabe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuhisa","family":"Takeda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken\u2010ichi","family":"Yasumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuo","family":"Udono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideo","family":"Saito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katsuhisa","family":"Ikeda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomonori","family":"Takasaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuhiro","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshimitsu","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masayoshi","family":"Tachibana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shigeki","family":"Shibahara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,5,22]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90429-T"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)36830-9"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-256"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.4.553"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-251"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0894-509"},{"key":"e_1_2_7_8_2","first-page":"76","article-title":"Analyses of loss\u2010of\u2010function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A","volume":"59","author":"Nobukuni Y","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1998.8838"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jbchem.a022548"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0167-4781(00)00051-8"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0749.1998.tb00491.x"},{"key":"e_1_2_7_13_2","doi-asserted-by":"crossref","unstructured":"TakedaK YasumotoK KawaguchiN UdonoT WatanabeK SaitoH TakahashiK NodaM ShibaharaS.Mitf\u2010D a newly identified isoform expressed in the retinal pigment epithelium and monocyte\u2010lineage cells affected byMitfmutations.Biochim Biophys Acta2002; 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