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Studies on alternative splicing (AS) in the abnormal pigmentation in skin in WS are currently poorly understood. In this study, we conducted comprehensive full-length transcriptome sequencing analysis on abdominal skin tissues from mice harboring the <jats:italic>Mitf<\/jats:italic> p.R324del mutation and wild-type controls. Our analysis revealed 3619 differentially expressed genes (DEGs), with 1916 upregulated and 1703 downregulated. Notably, pigment-associated genes and related signaling pathways were significantly enriched. Additionally, we identified extensive AS events in the skin tissue of <jats:italic>Mitf<\/jats:italic> mutant mice, including 97 A3, 85 A5, 101 AF, 42 AL, 8 MX, 44 RI, and 184 SE events (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.05), suggesting AS events may contribute to the pigment distribution patterns in Mitf p.R324del mutation mice. Furthermore, we observed downregulation of <jats:italic>Dct<\/jats:italic>, <jats:italic>Mlana<\/jats:italic>, and <jats:italic>Snai2<\/jats:italic>, which indicates that <jats:italic>Mitf<\/jats:italic> mutations disrupt neural crest cells into melanocytes, melanosome structure, and melanin biosynthesis. Overall, our results support that variation in gene expression and AS are important and complementary mechanisms governing pigmentation defects in WS.<\/jats:p>","DOI":"10.1038\/s41598-025-13359-8","type":"journal-article","created":{"date-parts":[[2025,7,31]],"date-time":"2025-07-31T19:48:25Z","timestamp":1753991305000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Full length transcriptomic profiling reveals insights into the white coat phenotype in Waardenburg syndrome mice harboring the Mitf R324del mutation"],"prefix":"10.1038","volume":"15","author":[{"given":"Wei","family":"Gong","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lu","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhili","family":"Feng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiangyao","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lile","family":"Ouyang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yihan","family":"Hu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xianlin","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Wen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoming","family":"Kang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yalan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiancheng","family":"Jing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chufeng","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong","family":"Feng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,7,31]]},"reference":[{"issue":"9","key":"13359_CR1","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1038\/s41434-021-00240-2","volume":"29","author":"S Huang","year":"2022","unstructured":"Huang, S. et al. 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