A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1

Yoshida, Yu; Doi, Rieko; Adachi, Kaori; Nanba, Eiji; Kodani, Isamu; Ryoke, Kazuo

doi:10.1038/hgv.2016.5

Cited by 11 publications

(5 citation statements)

References 13 publications

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“… Few human reports of Spina bifida; Synophrys, cleft lip and cryptochidism; Anal Atresia; Choroidal Melanoma; Unilateral renal agenesis; congenital cataracts. In mice, PAX3 mutations induce pigment defects, spina bifida, and heart defects (Truncus arteriosus) …”

Section: Piebaldism and Waardenburg Syndromementioning

confidence: 99%

Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome

Saleem

2018

Pediatric Dermatology

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Melanocyte development is orchestrated by a complex interconnecting regulatory network of genes and synergistic interactions. Piebaldism and Waardenburg syndrome are neurocristopathies that arise from mutations in genes involved in this complex network. Our understanding of melanocyte development, Piebaldism, and Waardenburg syndrome has improved dramatically over the past decade. The diagnosis and classification of Waardenburg syndrome, first proposed in 1992 and based on phenotype, have expanded over the past three decades to include genotype. This review focuses on the current understanding of human melanocyte development and the evaluation and management of Piebaldism and Waardenburg syndrome. Management is often challenging and requires a multidisciplinary approach.

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Section: Piebaldism and Waardenburg Syndromementioning

confidence: 99%

Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome

Saleem

2018

Pediatric Dermatology

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“…While PAX3 expression levels were not changed by co-treatment with SE, PAX3 may be regulated by a combination of other miRNAs or through feedback loops (Tsang et al, 2007; mice (Wu et al, 2008). PAX3 mutations in humans are known to be associated with non-syndromic CL/ P (Yoshida et al, 2016;Liang et al, 2021). Downregulation of PAX3 by miR-485-5p and miR-362-3p suppresses the proliferation of human glioma cells (Angelopoulou et al, 2019).…”

Section: Resultsmentioning

confidence: 99%

<i>Sasa veitchii</i> extracts protect phenytoin-induced cell proliferation inhibition in human lip mesenchymal cells through modulation of <i>miR-27b-5p </i>

et al. 2023

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A cleft lip, with or without a cleft palate, is a common birth defect caused by environmental factors or genetic mutations. Environmental factors, such as pharmaceutical exposure in pregnant women, are known to induce cleft lip, with or without cleft palate in the child. This study aimed to investigate the protective effect of Sasa veitchii extract (SE) on phenytoin-induced inhibition of cell proliferation in human lip mesenchymal cells (KD cells) and human embryonic palatal mesenchymal cells (HEPM cells). We demonstrated that cell proliferation was inhibited by phenytoin in a dose-dependent manner in both KD and HEPM cells. Co-treatment with SE restored phenytoin-induced toxicity in KD cells but did not protect HEPM cells against phenytoin-induced toxicity. Several microRNAs (miR-27b, miR-133b, miR-205, miR-497-5p, and miR-655-3p) is reported to associate with cell proliferation in KD cells. We measured the seven kinds of microRNAs (miR-27b-3p, miR-27b-5p, miR-133b, miR-205-3p, miR-205-5p, miR-497-5p, and miR-655-3p) and found that SE suppressed miR-27b-5p induced by phenytoin in KD cells. Furthermore, co-treatment with SE enhanced the expression of miR-27b-5p downstream genes (PAX9, RARA, and SUMO1). These results suggest that SE protects phenytoin-induced cell proliferation inhibition by modulating miR-27b-5p.

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“…PAX3 is a transcription factor that plays a role in neural development and is required for melanocyte differentiation. Mutations in PAX3 in humans cause Waardenburg syndrome type 1 which is associated with pigmentation defects 36, 37, 38, 39 . In mice, PAX3 has been shown to act at a nodal point in melanocyte stem cell differentiation, where it is required for the melanocyte stem cell state while also priming these cells for differentiation 19, 37 .…”

Section: Discussionmentioning

confidence: 99%

Specific oncogene activation of the cell of origin in mucosal melanoma

Babu,

Chen,

Robitschek

et al. 2024

Preprint

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Mucosal melanoma (MM) is a deadly cancer derived from mucosal melanocytes. To test the consequences of MM genetics, we developed a zebrafish model in which all melanocytes experienced CCND1 expression and loss of PTEN and TP53. Surprisingly, melanoma only developed from melanocytes lining internal organs, analogous to the location of patient MM. We found that zebrafish MMs had a unique chromatin landscape from cutaneous melanoma. Internal melanocytes could be labeled using a MM-specific transcriptional enhancer. Normal zebrafish internal melanocytes shared a gene expression signature with MMs. Patient and zebrafish MMs have increased migratory neural crest gene and decreased antigen presentation gene expression, consistent with the increased metastatic behavior and decreased immunotherapy sensitivity of MM. Our work suggests the cell state of the originating melanocyte influences the behavior of derived melanomas. Our animal model phenotypically and transcriptionally mimics patient tumors, allowing this model to be used for MM therapeutic discovery.

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A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1

Cited by 11 publications

References 13 publications

Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome

Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome

<i>Sasa veitchii</i> extracts protect phenytoin-induced cell proliferation inhibition in human lip mesenchymal cells through modulation of <i>miR-27b-5p </i>

Specific oncogene activation of the cell of origin in mucosal melanoma

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