Hearing V J
Laboratory of Cell Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
J Investig Dermatol Symp Proc. 1999 Sep;4(1):24-8. doi: 10.1038/sj.jidsp.5640176.
Current knowledge on the regulation of mammalian pigmentation at the genetic and biochemical level, and constituents that participate in melanosomal organization, is summarized. Approximately 25% of the more than 80 genes known to regulate pigmentation in mammals have been cloned and characterized to date. Almost half of those encode proteins that localize, either specifically or nonspecifically, to melanosomes; mutations in those genes generally lead to phenotypic changes in pigmentation as well as in other pleiotropic changes. The expression and function of these proteins not only affects phenotypic appearance, but also the properties of melanins, especially their photoprotective characteristics. Because many of those melanosomal proteins also serve as melanoma-specific targets, regulation of their expression has dramatic implications for immune targeting of malignant melanoma.
本文总结了目前在遗传和生化水平上对哺乳动物色素沉着调控的认识,以及参与黑素小体组织的成分。迄今为止,已知调控哺乳动物色素沉着的80多个基因中,约25%已被克隆和鉴定。其中近一半编码的蛋白质特异性或非特异性地定位于黑素小体;这些基因的突变通常会导致色素沉着的表型变化以及其他多效性变化。这些蛋白质的表达和功能不仅影响表型外观,还影响黑色素的特性,尤其是它们的光保护特性。由于许多黑素小体蛋白也是黑色素瘤特异性靶点,因此对其表达的调控对恶性黑色素瘤的免疫靶向具有重要意义。