title: Cell biology of the BLOC-1 complex subunit dysbindin, a schizophrenia susceptibility gene.
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.
authors.affiliation: Graduate Program in Neuroscience, Emory University, Atlanta, GA, USA.
authors.forename: Ariana P
authors.initials: AP
authors.lastname: Mullin
authors.forename: Avanti
authors.initials: A
authors.lastname: Gokhale
authors.forename: Jennifer
authors.initials: J
authors.lastname: Larimore
authors.forename: Victor
authors.initials: V
authors.lastname: Faundez
mesh_terms: D000818:Animals; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D003585:Cell Biology; D020022:Genetic Predisposition to Disease; D006801:Humans; D009419:Nerve Tissue Proteins / Q000378:metabolism*; D021122:Protein Subunits / Q000378:metabolism*; D012559:Schizophrenia / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D009419:Nerve Tissue Proteins; D021122:Protein Subunits