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Mol Neurobiol. 2011 Aug;44(1):53-64. doi: 10.1007/s12035-011-8183-3. Epub 2011 Apr 26.

Cell biology of the BLOC-1 complex subunit dysbindin, a schizophrenia susceptibility gene.

Author information

1
Graduate Program in Neuroscience, Emory University, Atlanta, GA, USA.

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.

PMID:
21520000
PMCID:
PMC3321231
DOI:
10.1007/s12035-011-8183-3
[Indexed for MEDLINE]
Free PMC Article

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