Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

Nat Genet. 2003 Sep;35(1):84-9. doi: 10.1038/ng1229. Epub 2003 Aug 17.

Abstract

Hermansky-Pudlak syndrome (HPS; MIM 203300) is a genetically heterogeneous disorder characterized by oculocutaneous albinism, prolonged bleeding and pulmonary fibrosis due to abnormal vesicle trafficking to lysosomes and related organelles, such as melanosomes and platelet dense granules. In mice, at least 16 loci are associated with HPS, including sandy (sdy; ref. 7). Here we show that the sdy mutant mouse expresses no dysbindin protein owing to a deletion in the gene Dtnbp1 (encoding dysbindin) and that mutation of the human ortholog DTNBP1 causes a novel form of HPS called HPS-7. Dysbindin is a ubiquitously expressed protein that binds to alpha- and beta-dystrobrevins, components of the dystrophin-associated protein complex (DPC) in both muscle and nonmuscle cells. We also show that dysbindin is a component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1; refs. 9-11), which regulates trafficking to lysosome-related organelles and includes the proteins pallidin, muted and cappuccino, which are associated with HPS in mice. These findings show that BLOC-1 is important in producing the HPS phenotype in humans, indicate that dysbindin has a role in the biogenesis of lysosome-related organelles and identify unexpected interactions between components of DPC and BLOC-1.

Publication types

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

MeSH terms

  • Animals
  • COS Cells
  • Carrier Proteins / chemistry*
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • Cytoskeletal Proteins / metabolism
  • Dysbindin
  • Dystrophin-Associated Proteins*
  • Female
  • Hermanski-Pudlak Syndrome / genetics*
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Lectins
  • Macromolecular Substances
  • Male
  • Melanosomes / metabolism
  • Membrane Proteins / metabolism
  • Mice
  • Mice, Inbred C3H
  • Mice, Inbred C57BL
  • Mice, Inbred DBA
  • Mice, Transgenic
  • Middle Aged
  • Molecular Sequence Data
  • Mutation*
  • Phosphoproteins / metabolism
  • Protein Binding

Substances

  • BLOC1S6 protein, human
  • Bloc1s6 protein, mouse
  • Carrier Proteins
  • Cytoskeletal Proteins
  • DTNBP1 protein, human
  • Dtnbp1 protein, mouse
  • Dysbindin
  • Dystrophin-Associated Proteins
  • Intracellular Signaling Peptides and Proteins
  • Lectins
  • Macromolecular Substances
  • Membrane Proteins
  • PALLD protein, human
  • Phosphoproteins
  • dystrobrevin
  • palladin protein, mouse

Associated data

  • GENBANK/AC084069
  • OMIM/203300