title: Characterization of the proteome, diseases and evolution of the human postsynaptic density.
abstract: We isolated the postsynaptic density from human neocortex (hPSD) and identified 1,461 proteins. hPSD mutations cause 133 neurological and psychiatric diseases and were enriched in cognitive, affective and motor phenotypes underpinned by sets of genes. Strong protein sequence conservation in mammalian lineages, particularly in hub proteins, indicates conserved function and organization in primate and rodent models. The hPSD is an important structure for nervous system disease and behavior.
authors.affiliation: Genes to Cognition Programme, Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridgeshire, UK.
authors.forename: Alex
authors.initials: A
authors.lastname: Bayés
authors.forename: Louie N
authors.initials: LN
authors.lastname: van de Lagemaat
authors.forename: Mark O
authors.initials: MO
authors.lastname: Collins
authors.forename: Mike D R
authors.initials: MD
authors.lastname: Croning
authors.forename: Ian R
authors.initials: IR
authors.lastname: Whittle
authors.forename: Jyoti S
authors.initials: JS
authors.lastname: Choudhary
authors.forename: Seth G N
authors.initials: SG
authors.lastname: Grant
mesh_terms: D000818:Animals; D002493:Central Nervous System Diseases / Q000235:genetics*; D019143:Evolution, Molecular; D006801:Humans; D008251:Macaca; D051379:Mice; D009154:Mutation; D019579:Neocortex / Q000378:metabolism*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D002679:Pan troglodytes; D057907:Post-Synaptic Density / Q000235:genetics*; D020543:Proteome / Q000235:genetics*; D051381:Rats; D013045:Species Specificity
chemical_list: D009419:Nerve Tissue Proteins; D020543:Proteome