Melanosome maturation defect in Rab38-deficient retinal pigment epithelium results in instability of immature melanosomes during transient melanogenesis

Mol Biol Cell. 2007 Oct;18(10):3914-27. doi: 10.1091/mbc.e07-03-0268. Epub 2007 Aug 1.

Abstract

Pathways of melanosome biogenesis in retinal pigment epithelial (RPE) cells have received less attention than those of skin melanocytes. Although the bulk of melanin synthesis in RPE cells occurs embryonically, it is not clear whether adult RPE cells continue to produce melanosomes. Here, we show that progression from pmel17-positive premelanosomes to tyrosinase-positive mature melanosomes in the RPE is largely complete before birth. Loss of functional Rab38 in the "chocolate" (cht) mouse causes dramatically reduced numbers of melanosomes in adult RPE, in contrast to the mild phenotype previously shown in skin melanocytes. Choroidal melanocytes in cht mice also have reduced melanosome numbers, but a continuing low level of melanosome biogenesis gradually overcomes the defect, unlike in the RPE. Partial compensation by Rab32 that occurs in skin melanocytes is less effective in the RPE, presumably because of the short time window for melanosome biogenesis. In cht RPE, premelanosomes form but delivery of tyrosinase is impaired. Premelanosomes that fail to deposit melanin are unstable in both cht and tyrosinase-deficient RPE. Together with the high levels of cathepsin D in immature melanosomes of the RPE, our results suggest that melanin deposition may protect the maturing melanosome from the activity of lumenal acid hydrolases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cathepsin D / metabolism
  • Cell Count
  • Choroid / cytology
  • Choroid / ultrastructure
  • Melanins / metabolism
  • Melanosomes / metabolism*
  • Melanosomes / ultrastructure
  • Mice
  • Monophenol Monooxygenase / deficiency
  • Monophenol Monooxygenase / metabolism
  • Parturition
  • Pigment Epithelium of Eye / enzymology
  • Pigment Epithelium of Eye / metabolism*
  • Pigment Epithelium of Eye / ultrastructure
  • Pigmentation
  • Protein Transport
  • rab GTP-Binding Proteins / deficiency*
  • rab GTP-Binding Proteins / metabolism

Substances

  • Melanins
  • Monophenol Monooxygenase
  • Cathepsin D
  • Rab32 protein, mouse
  • Rab38 protein, mouse
  • rab GTP-Binding Proteins