Mt. Zenner et al., EXPRESSION AND CHARACTERIZATION OF A DOPAMINE D4R VARIANT ASSOCIATED WITH DELUSIONAL DISORDER, FEBS letters, 422(2), 1998, pp. 146-150
Multiple genetic polymorphisms of the human dopamine D4 receptor (hD4R
) have been identified including a 12 bp repeat in exon 1 associated w
ith a psychotic condition called delusional disorder. Competition bind
ing assays revealed minor pharmocological differences between the reco
mbinant A1 (normal) and A2 (delusional) proteins with respect to quinp
irole and the antipsychotic clozapine, however no functional differenc
es were detected for receptor activation by dopamine, epinephrine, or
norepinephrine. Our results suggest that this polymorphism may only co
nfer susceptibility to delusional disorder in combination with other g
enetic or environmental factors. (C) 1998 Federation of European Bioch
emical Societies.