摘要
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.
基金
We would like to thank Dr HeinzAmheiter （NIH/NINDS） for generously contributing to the images, and Dr Laura Baxter and Dr Yingzi Yang （NIH/NHGRI） for thoughtful comments on the manuscript. We also acknowledge the support by the National Natural Science Foundation of China （30771149） and the Intramural Research Program of the National Human Genome Research Institute, National Institutes of Health.
