Molecular Neurobiology

, Volume 44, Issue 1, pp 53–64

Cell Biology of the BLOC-1 Complex Subunit Dysbindin, a Schizophrenia Susceptibility Gene

  • Ariana P. Mullin
  • Avanti Gokhale
  • Jennifer Larimore
  • Victor Faundez
Article

DOI: 10.1007/s12035-011-8183-3

Cite this article as:
Mullin, A.P., Gokhale, A., Larimore, J. et al. Mol Neurobiol (2011) 44: 53. doi:10.1007/s12035-011-8183-3

Abstract

There is growing interest in the biology of dysbindin and its genetic locus (DTNBP1) due to genetic variants associated with an increased risk of schizophrenia. Reduced levels of dysbindin mRNA and protein in the hippocampal formation of schizophrenia patients further support involvement of this locus in disease risk. Here, we discuss phylogenetically conserved dysbindin molecular interactions that define its contribution to the assembly of the biogenesis of lysosome-related organelles complex-1 (BLOC-1). We explore fundamental cellular processes where dysbindin and the dysbindin-containing BLOC-1 complex are implicated. We propose that cellular, tissue, and system neurological phenotypes from dysbindin deficiencies in model genetic organisms, and likely individuals affected with schizophrenia, emerge from abnormalities in few core cellular mechanisms controlled by BLOC-1-dysbindin-containing complex rather than from defects in dysbindin itself.

Keywords

DysbindinDTNBP1Hermansky–PudlakBLOC-1AP-3Schizophrenia

Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Ariana P. Mullin
    • 1
    • 3
  • Avanti Gokhale
    • 3
  • Jennifer Larimore
    • 3
  • Victor Faundez
    • 1
    • 2
    • 3
  1. 1.Graduate Program in NeuroscienceEmory UniversityAtlantaUSA
  2. 2.Center for Neurodegenerative DiseasesEmory UniversityAtlantaUSA
  3. 3.Department of Cell BiologyEmory University School of MedicineAtlantaUSA