The master role of microphthalmia-associated transcription factor in melanocyte and melanoma biology
The master role of microphthalmia-associated transcription factor in melanocyte and melanoma biology
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DOI：
10.1038/labinvest.2017.9
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发表时间：
2017-06-01
影响因子：
5
通讯作者：
Fisher, David E.
中科院分区：
文献类型：
--
作者：
Kawakami, Akinori;Fisher, David E.
某些转录因子在谱系发育中具有重要作用，包括细胞类型的特化和分化的控制。小眼症相关转录因子（MITF）是黑素细胞发育和分化的关键转录因子。MITF调节许多色素沉着基因的表达以促进黑素细胞分化，以及维持细胞稳态的基本基因，包括编码参与细胞凋亡（例如BCL 2）和细胞周期（例如CDK 2）的蛋白质的基因。MITF的功能丧失突变导致IIA型Waardenburg综合征，其表型包括由于黑素细胞丧失导致的色素脱失，而MITF的扩增或特异性突变可能是在家族性或散发性黑色素瘤亚组中观察到的致癌事件。在这篇文章中，我们回顾了MITF生物学功能的基本特征，并强调了关于这个显着的转录因子的关键未解决的问题。
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.