Journal
LABORATORY INVESTIGATION
Volume 97, Issue 6, Pages 649-656Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/labinvest.2017.9
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Funding
- NIH [P01 CA163222, R01 AR043369-19]
- Dr. Miriam and Sheldon G. Adelson Medical Research Foundation
- Melanoma Research Alliance
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Certain transcription factors have vital roles in lineage development, including specification of cell types and control of differentiation. Microphthalmia-associated transcription factor (MITF) is a key transcription factor for melanocyte development and differentiation. MITF regulates expression of numerous pigmentation genes to promote melanocyte differentiation, as well as fundamental genes for maintaining cell homeostasis, including genes encoding proteins involved in apoptosis (eg, BCL2) and the cell cycle (eg, CDK2). Loss-of-function mutations of MITF cause Waardenburg syndrome type IIA, whose phenotypes include depigmentation due to melanocyte loss, whereas amplification or specific mutation of MITF can be an oncogenic event that is seen in a subset of familial or sporadic melanomas. In this article, we review basic features of MITF biological function and highlight key unresolved questions regarding this remarkable transcription factor.
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