Regulation of Melanocyte Development and Differentiation

Division Of Basic Sciences - Nci

Investigators

Linked publications, trials & patents

Abstract

This project remains active principally to complete work describing melanocyte development and survival in a mouse model of the human deafness-pigmentation syndrome Waardenburg syndrome. In this study, the otic phenotype of this mouse model was studied. These mice exhibit a hearing deficit due to loss of melanocytes in the ear during the first several days of post-natal life. These results help to explain an important disparity between the severe otic pigmentary phenotype and the relatively mild cutaneous pigmentary phenotypes observed in individuals with the inherited developmental pigmentary disorders Waardenburg syndrome and Tietz syndrome. We completed a collaborative project designed to understand further the role of the Mitf transcription in mitigating the apoptotic response of melanocytes to ultraviolet (UV) irradiation. This work demonstrated the importance of Mitf, relative to absolute pigmentation, in protecting the melanocyte from UV-induced apoptosis. It was published in 2009 in Pigment Cell and Melanoma Research.