The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Melanocytes and the Microphthalmia Transcription Factor Network
Abstract
▪ Abstract The first mouse microphthalmia transcription factor (Mitf ) mutation was discovered over 60 years ago, and since then over 24 spontaneous and induced mutations have been identified at the locus. Mitf encodes a member of the Myc supergene family of basic helix-loop-helix zipper (bHLH-Zip) transcription factors. Like Myc, Mitf regulates gene expression by binding to DNA as a homodimer or as a heterodimer with another related family member, in the case of Mitf the Tfe3, Tfeb, and Tfec proteins. The study of Mitf has provided many insights into the biology of melanocytes and helped to explain how melanocyte-specific gene expression and signaling is regulated. The human homologue of MITF is mutated in patients with the pigmentary and deafness disorder Waardenburg Syndrome Type 2A (WS2A). The mouse Mitf mutations therefore serve as a model for the study of this human disease. Mutations and/or aberrant expression of several MITF family member genes have also been reported in human cancer, including melanoma (MITF), papillary renal cell carcinoma (TFE3, TFEB), and alveolar soft part sarcoma (TFE3). Genes in the MITF/TFE pathway may therefore also represent valuable therapeutic targets for the treatment of human cancer. Here we review recent developments in the analysis of Mitf function in vivo and in vitro and show how traditional genetics, modern forward genetics and in vitro biochemical analyses have combined to produce an intriguing story on the role and actions of a gene family in a living organism.
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Cites
Mutations of the BRAF gene in human cancer
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Cited by
A Gene Network Regulating Lysosomal Biogenesis and Function
Sardiello, M., Palmieri, M., di Ronza, A., Medina, D. L., Valenza, M., Gennarino, V. A., Di Malta, C., Donaudy, F., Embrione, V., Polishchuk, R. S., et al. (2009) · Science · doi:10.1126/science.1174447 · Cited by 2,543
Garraway, L. A., Widlund, H. R., Rubin, M. A., Getz, G., Berger, A. J., Ramaswamy, S., Beroukhim, R., Milner, D. A., Granter, S. R., Du, J., et al. (2005) · Nature · doi:10.1038/nature03664 · Cited by 1,548
Melanocyte biology and skin pigmentation
Lin, J. Y., & Fisher, D. E. (2007) · Nature · doi:10.1038/nature05660 · Cited by 1,379
MITF: master regulator of melanocyte development and melanoma oncogene
Levy, C., Khaled, M., & Fisher, D. E. (2006) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2006.07.008 · Cited by 1,169
Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways
Palmieri, M., Impey, S., Kang, H., di Ronza, A., Pelz, C., Sardiello, M., & Ballabio, A. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr306 · Cited by 1,022
Metadata
- Authors
- Steingrímsson, E., Copeland, N. G., & Jenkins, N. A.
- Venue
- Annual Review of Genetics
- Publisher
- Annual Reviews
- Published
- 2004-12-01
- Volume
- 38
- Issue
- 1
- Pages
- 365-411
- ISSN
- 0066-4197 (ISSN-L)
- 1545-2948
- OpenAlex
- W2106771547
- Cited by
- 771
- References
- 3
- FWCI
- 1.34
- Type
- journal article
- Language
- en
- Open access
- closed
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