Journal
PIGMENT CELL RESEARCH
Volume 18, Issue 5, Pages 322-336Publisher
WILEY
DOI: 10.1111/j.1600-0749.2005.00269.x
Keywords
melanosome; endosome; fibril formation; ER
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Funding
- NCI NIH HHS [T32 CA09140, T32 CA009140] Funding Source: Medline
- NEI NIH HHS [R03 EY014919, R01 EY015625] Funding Source: Medline
- NIAMS NIH HHS [R01 AR048155, R01 AR048155-04] Funding Source: Medline
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Mouse coat color mutants have led to the identification of more than 120 genes that encode proteins involved in all aspects of pigmentation, from the regulation of melanocyte development and differentiation to the transcriptional activation of pigment genes, from the enzymatic formation of pigment to the control of melanosome biogenesis and movement [Bennett and Lamoreux (2003) Pigment Cell Res. 16, 333]. One of the more perplexing of the identified mouse pigment genes is encoded at the Silver locus, first identified by Dunn and Thigpen [(1930) J. Heredity 21, 495] as responsible for a recessive coat color dilution that worsened with age on black backgrounds. The product of the Silver gene has since been discovered numerous times in different contexts, including the initial search for the tyrosinase gene, the characterization of major melanosome constituents in various species, and the identification of tumor-associated antigens from melanoma patients. Each discoverer provided a distinct name: Pmel17, gp100, gp95, gp85, ME20, RPE1, SILV and MMP115 among others. Although all its functions are unlikely to have yet been fully described, the protein clearly plays a central role in the biogenesis of the early stages of the pigment organelle, the melanosome, in birds, and mammals. As such, we will refer to the protein in this review simply as pre-melanosomal protein (Pmel). This review will summarize the structural and functional aspects of Pmel and its role in melanosome biogenesis.
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