{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:06:32Z","timestamp":1787015192740,"version":"build-2736575974"},"reference-count":33,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2011,9,21]],"date-time":"2011-09-21T00:00:00Z","timestamp":1316563200000},"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 Melanoma Res"],"published-print":{"date-parts":[[2012,1]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    Greying with age in horses is an autosomal dominant trait, characterized by hair greying, high incidence of melanoma and vitiligo\u2010like depigmentation. Previous studies have revealed that the causative mutation for this phenotype is a 4.6\u2010kb intronic duplication in\n                    <jats:italic>STX17<\/jats:italic>\n                    (Syntaxin 17). By using reporter constructs in transgenic zebrafish, we show that a construct containing two copies of the duplicated sequence acts as a strong enhancer in neural crest cells and has subsequent melanophore\u2010specific activity during zebrafish embryonic development whereas a single copy of the duplicated sequence acts as a weak enhancer, consistent with the phenotypic manifestation of the mutation in horses. We further used luciferase assays to investigate regulatory regions in the duplication, to reveal tissue\u2010specific activities of these elements. One region upregulated the reporter gene expression in a melanocyte\u2010specific manner and contained two microphthalmia\u2010associated transcription factor (MITF) binding sites, essential for the activity. Microphthalmia\u2010associated transcription factor regulates melanocyte development, and these binding sites are outstanding candidates for mediating the melanocyte\u2010specific activity of the element. These results provide strong support for the causative nature of the duplication and constitute an explanation for the melanocyte\u2010specific effects of the\n                    <jats:italic>Grey<\/jats:italic>\n                    allele.\n                  <\/jats:p>","DOI":"10.1111\/j.1755-148x.2011.00902.x","type":"journal-article","created":{"date-parts":[[2011,9,1]],"date-time":"2011-09-01T01:47:53Z","timestamp":1314841673000},"page":"28-36","source":"Crossref","is-referenced-by-count":42,"title":["Identification of a melanocyte\u2010specific, microphthalmia\u2010associated transcription factor\u2010dependent regulatory element in the intronic duplication causing hair greying and melanoma in horses"],"prefix":"10.1111","volume":"25","author":[{"given":"Elisabeth","family":"Sundstr\u00f6m","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Z.","family":"Komisarczuk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Golovko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pavla","family":"Navratilova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silke","family":"Rinkwitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas S.","family":"Becker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leif","family":"Andersson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,9,21]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2009-10-4-r38"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0749.13.s8.10.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.2910390324"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.14.12.7996"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.134.3.747"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.18.2.694"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05098"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2008-9-2-r34"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0749.2000.130109.x"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1996.0298"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.8.22.2770"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90429-T"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.10"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.6086307"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/aja.1002030302"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2009.09.029"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/1475-4924-2-13"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.126.17.3757"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1621\/nrs.04002"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(89)90682-X"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(89)90434-0"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/79951"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2008.10.044"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M603436200"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.124.12.2377"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02736784"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.185"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M800480200"},{"key":"e_1_2_7_30_1","unstructured":"Sutton R.H. andColeman G.T.(1997).Melanoma and the Graying Horse. In RIRDC Research Paper Series (Barton Australia)."},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-251"},{"key":"e_1_2_7_32_1","volume-title":"The Zebrafish Book. 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