Evidence map›Paper›PMID 40745198›Full record

ArticleScientific reports2025

Full length transcriptomic profiling reveals insights into the white coat phenotype in Waardenburg syndrome mice harboring the Mitf R324del mutation.

Wei Gong, Lu Ma, Zhili Feng, Xiangyao Zeng, Lile Ouyang, Yihan Hu, Xianlin Liu, Jie Wen, Xiaoming Kang, Yalan Liu and 4 more

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Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

14 authors.

Wei Gong *Department of Otorhinolaryngology, The Affiliated Changsha Central Hospital, Hengyang Medical School, University of South China, Changsha, China.
Lu Ma *Institute of Otorhinolaryngology, Head and Neck Surgery, University of South China, Changsha, China.
Zhili FengDepartment of Otorhinolaryngology, The Affiliated Changsha Central Hospital, Hengyang Medical School, University of South China, Changsha, China.
Xiangyao ZengInstitute of Otorhinolaryngology, Head and Neck Surgery, University of South China, Changsha, China.
Lile OuyangDepartment of Otorhinolaryngology, The Affiliated Changsha Central Hospital, Hengyang Medical School, University of South China, Changsha, China.
Yihan HuDepartment of Otorhinolaryngology, The Affiliated Changsha Central Hospital, Hengyang Medical School, University of South China, Changsha, China.
Xianlin LiuDepartment of Otorhinolaryngology, The Affiliated Changsha Central Hospital, Hengyang Medical School, University of South China, Changsha, China.
Jie WenDepartment of Otorhinolaryngology, The Affiliated Changsha Central Hospital, Hengyang Medical School, University of South China, Changsha, China.
Xiaoming KangDepartment of Otorhinolaryngology, The Affiliated Changsha Central Hospital, Hengyang Medical School, University of South China, Changsha, China.
Yalan LiuDepartment of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha, China.
Hong WuDepartment of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha, China.
Qiancheng JingDepartment of Otorhinolaryngology, The Affiliated Changsha Central Hospital, Hengyang Medical School, University of South China, Changsha, China.
Chufeng HeDepartment of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha, China.
Yong FengDepartment of Otorhinolaryngology, The Affiliated Changsha Central Hospital, Hengyang Medical School, University of South China, Changsha, China. fengyong_hn@hotmail.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Waardenburg syndrome (WS) is distinguished by depigmented patches of hair and skin, striking blue eyes and sensorineural hearing loss. 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 Mitf 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 Mitf mutant mice, including 97 A3, 85 A5, 101 AF, 42 AL, 8 MX, 44 RI, and 184 SE events (P < 0.05), suggesting AS events may contribute to the pigment distribution patterns in Mitf p.R324del mutation mice. Furthermore, we observed downregulation of Dct, Mlana, and Snai2, which indicates that Mitf 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.

Indexed as

Microphthalmia-Associated Transcription FactorMutationTranscriptomeWaardenburg SyndromeAlternative SplicingAnimalsDisease Models, AnimalGene Expression ProfilingMelanocytesMicePhenotypeSkin PigmentationMicrophthalmia-Associated Transcription FactorMitf protein, mouseFull-length transcriptome sequencingMitfPigmentationWaardenburg syndrome

Identifiers

PMID40745198
PMCPMC12314077

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