Hou Ling, Pavan William J
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.
Cell Res. 2008 Dec;18(12):1163-76. doi: 10.1038/cr.2008.303.
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.
人类神经嵴病变包括许多神经嵴（NC）干细胞衍生物的综合征、肿瘤和畸形。近年来，许多白斑基因与神经嵴病变中的色素减退症和耳聋有关，这些病变是由于发育过程中NC干细胞衍生的黑素细胞缺乏所致。这些基因包括PAX3、SOX10、MITF、SNAI2、EDNRB、EDN3、KIT和KITL。最近的研究揭示了MITF在黑素细胞发育中相互作用基因的复杂网络中的核心作用，这一发现令人惊讶。从这个角度出发，我们概述了一些当前的研究结果，并探讨了这些基因在NC干细胞衍生的黑素细胞发育过程中的复杂功能作用。
