ArticlePigment cell & melanoma research2020
Delineating the role of MITF isoforms in pigmentation and tissue homeostasis.
Article in Pigment cell & melanoma research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 28 citations in OpenAlex.
- Article
- MITF maintains genome stability in nonmelanocyte lineages.Molecular oncology · 2026Article
- Review
- Differential Expression ofAnimals : an open access journal from MDPI · 2026Article
- Transcription factor MITF regulates masseter muscle growth and development.Physiological reports · 2025Article
- Selection signature analysis using whole genome resequencing data reveals candidate genes for white plumage color in Korean native ducks.Animal bioscience · 2025Article
- Acquired resistance to immune checkpoint therapy is caused by glycoprotein non-metastatic melanoma protein B signal cascade.Communications medicine · 2025Article
- A high-quality assembly revealing the PMEL gene for the unique plumage phenotype in Liancheng ducks.GigaScience · 2025Article
- Coloration in Equine: Overview of Candidate Genes Associated with Coat Color Phenotypes.Animals : an open access journal from MDPI · 2024Review
- A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.BMC medical genomics · 2022Article
- Compartmentalization and regulation of GTP in control of cellular phenotypes.Trends in molecular medicine · 2022Review
- MITF in Normal Melanocytes, Cutaneous and Uveal Melanoma: A Delicate Balance.International journal of molecular sciences · 2022Review
- Hearing Function, Degeneration, and Disease: Spotlight on the Stria Vascularis.Frontiers in cell and developmental biology · 2022Review
- JAML promotes CD8 and γδ T cell antitumor immunity and is a novel target for cancer immunotherapy.The Journal of experimental medicine · 2021Article
- Hydroxyurea regulates the development and survival of B16 Melanoma Cells by upregulating MiR-7013-3p.International journal of medical sciences · 2021Article
- CRTC3, a sensor and key regulator for melanogenesis, as a tunable therapeutic target for pigmentary disorders.Theranostics · 2021Article
- Characterization ofGenes · 2020Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
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.
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