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Jessica L. Flesher Elyse K. Paterson‐Coleman Priya Vasudeva Rolando Ruiz‐Vega Michaela Marshall Eric Pearlman Grant R. MacGregor Jonathan Neumann Anand K. Ganesan 《Pigment cell & melanoma research》2020,33(2):279-292
MITF, a gene that is mutated in familial melanoma and Waardenburg syndrome, encodes multiple isoforms expressed from alternative promoters that share common coding exons but have unique amino termini. It is not completely understood how these isoforms influence pigmentation in different tissues and how the expression of these independent isoforms of MITF is regulated. Here, we show that melanocytes express two isoforms of MITF, MITF‐A and MITF‐M. The expression of MITF‐A is partially regulated by a newly identified retinoid enhancer element located upstream of the MITF‐A promoter. Mitf‐A knockout mice have only subtle changes in melanin accumulation in the hair and reduced Tyr expression in the eye. In contrast, Mitf‐M‐null mice have enlarged kidneys, lack neural crest‐derived melanocytes in the skin, choroid, and iris stroma, yet maintain pigmentation within the retinal pigment epithelium and iris pigment epithelium of the eye. Taken together, these studies identify a critical role for MITF‐M in melanocytes, a minor role for MITF‐A in regulating pigmentation in the hair and Tyr expression in the eye, and a novel role for MITF‐M in size control of the kidney. 相似文献
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Bcl2 regulation by the melanocyte master regulator Mitf modulates lineage survival and melanoma cell viability 总被引:25,自引:0,他引:25
McGill GG Horstmann M Widlund HR Du J Motyckova G Nishimura EK Lin YL Ramaswamy S Avery W Ding HF Jordan SA Jackson IJ Korsmeyer SJ Golub TR Fisher DE 《Cell》2002,109(6):707-718
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Hypoxia-inducible factor 1{alpha} is a new target of microphthalmia-associated transcription factor (MITF) in melanoma cells
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Buscà R Berra E Gaggioli C Khaled M Bille K Marchetti B Thyss R Fitsialos G Larribère L Bertolotto C Virolle T Barbry P Pouysségur J Ponzio G Ballotti R 《The Journal of cell biology》2005,170(1):49-59