{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:43:21Z","timestamp":1787013801094,"version":"build-2736575974"},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,9,28]],"date-time":"2015-09-28T00:00:00Z","timestamp":1443398400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2015,12]]},"abstract":"Summary<\/jats:title>\n \n A candidate gene analysis of the\n microphthalmia\u2010associated transcription factor<\/jats:italic>\n (\n \n MITF<\/jats:styled-content>\n <\/jats:italic>\n ) gene was used in an attempt to identify the genetic basis for a white\u2010spotted coat color phenotype in the Asian swamp buffalo (\n Bubalus bubalis carabanensis<\/jats:italic>\n ). Ninety\u2010three buffaloes\u201432 solid, 38 spotted and 23 white individuals\u2014were Sanger\u2010sequenced for all\n \n MITF<\/jats:styled-content>\n <\/jats:italic>\n exons as well as highly conserved intronic and flanking regions.\n \n MITF<\/jats:styled-content>\n <\/jats:italic>\n cDNA<\/jats:styled-content>\n representing skin and iris tissue from six spotted, nine solid and one white buffaloes was also Sanger\u2010sequenced to confirm detected mutations. Two independent loss\u2010of\u2010function mutations, a premature stop codon (c.328C>T, p.Arg110*) and a donor splice\u2010site mutation (c.840+2T>A, p.Glu281_Leu282Ins8), both of which cause white\u2010spotted coat color in swamp buffaloes, were identified. The nonsense mutation leads to a premature stop codon in exon 3, and likely removal of the resulting\n mRNA<\/jats:styled-content>\n via nonsense\u2010mediated decay pathway, whereas the donor splice\u2010site mutation leads to aberrant splicing of exon 8 that encodes part of a highly conserved region of\n \n MITF<\/jats:styled-content>\n <\/jats:italic>\n . The resulting insertion of eight amino acid residues is expected to perturb the leucine zipper part in the basic helix\u2010loop\u2010helix leucine zipper (\n bHLH<\/jats:styled-content>\n \u2010Zip) domain and will most likely influence dimerization and\n DNA<\/jats:styled-content>\n binding capacity. Electrophoretic mobility shift assay was performed using mutant and wild\u2010type\n MITF<\/jats:styled-content>\n proteins and showed that the mutant\n MITF<\/jats:styled-content>\n protein resulting from the splice\u2010site mutation decreased\n in\u00a0vitro<\/jats:italic>\n DNA<\/jats:styled-content>\n binding capacity compared to wild\u2010type\n MITF<\/jats:styled-content>\n . White\u2010spotted buffalo bulls are sacrificed in funeral ceremonies in Tana Toraja, Indonesia, because they are considered holy, and our results show that genetic variation causes a tie to the cultural use of these buffaloes.\n <\/jats:p>","DOI":"10.1111\/age.12334","type":"journal-article","created":{"date-parts":[[2015,9,29]],"date-time":"2015-09-29T01:04:04Z","timestamp":1443488644000},"page":"676-682","source":"Crossref","is-referenced-by-count":30,"title":["Microphthalmia\u2010associated transcription factor<\/i>\n mutations are associated with white\u2010spotted coat color in swamp buffalo"],"prefix":"10.1111","volume":"46","author":[{"given":"Y.","family":"Yusnizar","sequence":"first","affiliation":[{"name":"Graduate School Bogor Agricultural University (IPB) 16680 Bogor Indonesia"},{"name":"Department of Animal Breeding and Genetics Swedish University of Agricultural Sciences (SLU) SE\u2010750 07 Uppsala Sweden"},{"name":"Research Center for Biotechnology Indonesian Institute for Sciences (LIPI) 16912 Cibinong Indonesia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Wilbe","sequence":"additional","affiliation":[{"name":"Department of Animal Breeding and Genetics Swedish University of Agricultural Sciences (SLU) SE\u2010750 07 Uppsala Sweden"},{"name":"Department of Immunology, Genetics and Pathology Uppsala University SE\u2010751 08 Uppsala Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. O.","family":"Herlino","sequence":"additional","affiliation":[{"name":"Department of Animal Breeding and Genetics Swedish University of Agricultural Sciences (SLU) SE\u2010750 07 Uppsala Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Sumantri","sequence":"additional","affiliation":[{"name":"Department of Animal Productions and Technology Faculty of Animal Sciences Bogor Agricultural University (IPB) 16680 Bogor Indonesia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Rachman","family":"Noor","sequence":"additional","affiliation":[{"name":"Department of Animal Productions and Technology Faculty of Animal Sciences Bogor Agricultural University (IPB) 16680 Bogor Indonesia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Boediono","sequence":"additional","affiliation":[{"name":"Department of Anatomy, Physiology and Pharmacology Faculty of Veterinary Medicine Bogor Agricultural University (IPB) 16680 Bogor Indonesia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Andersson","sequence":"additional","affiliation":[{"name":"Department of Animal Breeding and Genetics Swedish University of Agricultural Sciences (SLU) SE\u2010750 07 Uppsala Sweden"},{"name":"Department of Medical Biochemistry and Microbiology Uppsala University Uppsala Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Andersson","sequence":"additional","affiliation":[{"name":"Department of Animal Breeding and Genetics Swedish University of Agricultural Sciences (SLU) SE\u2010750 07 Uppsala Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,9,28]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580205"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0104363"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/522090"},{"key":"e_1_2_8_5_1","unstructured":"CastilloL.(2004)New scientific name of the domesticated swamp buffalo the carabao \u2013 Bubalus bubalis carabanensis. 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