Neurofibromatosis type 1 protein and amyloid precursor protein interact in normal human melanocytes and colocalize with melanosomes

J Invest Dermatol. 2006 Mar;126(3):653-9. doi: 10.1038/sj.jid.5700087.

Abstract

The neurofibromatosis type 1 (NF1) gene product, neurofibromin, is known to interact with Ras, thereby negatively regulating its growth-promoting function. Although this is a well-established interaction, the discovery of other neurofibromin interacting partners could reveal new functional properties of this large protein. Using yeast two-hybrid analysis against a brain cDNA library, we identified a novel interaction between the amyloid precursor protein and the GTPase activating protein-related domain of neurofibromin. This interaction was further analyzed in human melanocytes and confirmed by immunoprecipitation and colocalization studies. In addition, we observed a colocalization of amyloid precursor protein and neurofibromin with melanosomes. Amyloid precursor protein has been proposed to function as a vesicle cargo receptor for the motor protein kinesin-1 in neurons. This colocalization of amyloid precursor protein and neurofibromin with melanosomes was lost in melanocytes obtained from normal skin of a NF1 patient. We suggest that a complex between amyloid precursor protein, neurofibromin, and melanosomes might be important in melanosome transport, which could shed a new light on the etiopathogenesis of pigment-cell-related manifestations in NF1.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cafe-au-Lait Spots / etiology
  • Cells, Cultured
  • Genes, Neurofibromatosis 1
  • Humans
  • Melanocytes / chemistry*
  • Melanosomes / chemistry*
  • Neurofibromin 1 / analysis*
  • Neurofibromin 1 / genetics
  • Neurofibromin 1 / metabolism
  • Serum Amyloid A Protein / analysis*
  • Serum Amyloid A Protein / genetics
  • Serum Amyloid A Protein / metabolism
  • Two-Hybrid System Techniques

Substances

  • Neurofibromin 1
  • Serum Amyloid A Protein