title: Transcriptional and signaling regulation in neural crest stem cell-derived melanocyte development: do all roads lead to Mitf?
abstract: Human neurocristopathies include a number of syndromes, tumors, and dysmorphologies of neural crest (NC) stem cell derivatives. In recent years, many white spotting genes have been associated with hypopigmentary disorders and deafness in neurocristopathies resulting from NC stem cell-derived melanocyte deficiency during development. These include PAX3, SOX10, MITF, SNAI2, EDNRB, EDN3, KIT, and KITL. Recent studies have revealed surprising new insights into a central role of MITF in the complex network of interacting genes in melanocyte development. In this perspective, we provide an overview of some of the current findings and explore complex functional roles of these genes during NC stem cell-derived melanocyte development.
authors.affiliation: State Key Laboratory Cultivation Base and Key Laboratory of Vision Science of China Ministry of Health, Eye Hospital, Wenzhou Medical College, 270 Xueyuan Road, Wenzhou, Zhejiang 325003, China. lhou@mail.eye.ac.cn
authors.forename: Ling
authors.initials: L
authors.lastname: Hou
authors.forename: William J
authors.initials: WJ
authors.lastname: Pavan
mesh_terms: D000818:Animals; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D008544:Melanocytes / Q000166:cytology / Q000378:metabolism* / Q000473:pathology; D051739:Microphthalmia-Associated Transcription Factor / Q000235:genetics / Q000378:metabolism*; D009432:Neural Crest / Q000166:cytology / Q000378:metabolism* / Q000473:pathology; D013234:Stem Cells / Q000166:cytology / Q000378:metabolism* / Q000473:pathology; D014158:Transcription, Genetic
chemical_list: C497234:MITF protein, human; D051739:Microphthalmia-Associated Transcription Factor