Ontology highlight
ABSTRACT:
SUBMITTER: Bertolino A
PROVIDER: S-EPMC2640212 | biostudies-literature | 2009 Feb
REPOSITORIES: biostudies-literature
Bertolino Alessandro A Fazio Leonardo L Caforio Grazia G Blasi Giuseppe G Rampino Antonio A Romano Raffaella R Di Giorgio Annabella A Taurisano Paolo P Papp Audrey A Pinsonneault Julia J Wang Danxin D Nardini Marcello M Popolizio Teresa T Sadee Wolfgang W
Brain : a journal of neurology 20081001 Pt 2
Dopamine D2 receptor signalling is strongly implicated in the aetiology of schizophrenia. We have recently characterized the function of three DRD2 SNPs: rs12364283 in the promoter affecting total D2 mRNA expression; rs2283265 and rs1076560, respectively in introns 5 and 6, shifting mRNA splicing to two functionally distinct isoforms, the short form of D2 (D2S) and the long form (D2L). These two isoforms differentially contribute to dopamine signalling in prefrontal cortex and in striatum. We pe ...[more]