Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex

Blood. 2004 Nov 15;104(10):3181-9. doi: 10.1182/blood-2004-04-1538. Epub 2004 Jul 20.

Abstract

Hermansky-Pudlak syndrome (HPS), a disorder of organelle biogenesis, affects lysosomes, melanosomes, and platelet dense bodies. Seven genes cause HPS in humans (HPS1-HPS7) and at least 15 nonallelic mutations cause HPS in mice. Where their function is known, the HPS proteins participate in protein trafficking and vesicle docking/fusion events during organelle biogenesis. HPS-associated genes participate in at least 4 distinct protein complexes: the adaptor complex AP-3; biogenesis of lysosome-related organelles complex 1 (BLOC-1), consisting of 4 HPS proteins (pallidin, muted, cappuccino, HPS7/sandy); BLOC-2, consisting of HPS6/ruby-eye, HPS5/ruby-eye-2, and HPS3/cocoa; and BLOC-3, consisting of HPS1/pale ear and HPS4/light ear. Here, we report the cloning of the mouse HPS mutation reduced pigmentation (rp). We show that the wild-type rp gene encodes a novel, widely expressed 195-amino acid protein that shares 87% amino acid identity with its human orthologue and localizes to punctate cytoplasmic structures. Further, we show that phosphorylated RP is part of the BLOC-1 complex. In mutant rp/rp mice, a premature stop codon truncates the protein after 79 amino acids. Defects in all the 5 known components of BLOC-1, including RP, cause severe HPS in mice, suggesting that the subunits are nonredundant and that BLOC-1 plays a key role in organelle biogenesis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adaptor Protein Complex 3
  • Adaptor Protein Complex beta Subunits
  • Amino Acid Sequence
  • Animals
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • Cell Line, Tumor
  • Chromosome Mapping
  • Cloning, Molecular
  • Disease Models, Animal
  • Female
  • Fibroblasts / cytology
  • Hermanski-Pudlak Syndrome / genetics*
  • Hermanski-Pudlak Syndrome / physiopathology*
  • Humans
  • Lysosomes / physiology
  • Male
  • Melanocytes / cytology
  • Melanocytes / physiology
  • Melanoma
  • Membrane Transport Proteins
  • Mice
  • Mice, Inbred C57BL
  • Mice, Mutant Strains
  • Molecular Sequence Data
  • Nerve Tissue Proteins
  • Phenotype
  • Pigmentation / genetics*
  • Transcription Factors / metabolism

Substances

  • Adaptor Protein Complex 3
  • Adaptor Protein Complex beta Subunits
  • Ap3d1 protein, mouse
  • BLOC1S1 protein, human
  • BLOC1S3 protein, human
  • Carrier Proteins
  • Membrane Transport Proteins
  • Nerve Tissue Proteins
  • Transcription Factors
  • rp protein (BLOC-1 complex), mouse

Associated data

  • GENBANK/AY515509
  • GENBANK/BK005392