Liu, Ivy S. C.,; Seeman, Philip; Sanyal, Suparna; Ulpian, Carla; Rodgers Johnson, Pamela E. B.; Serjeant, Graham R.; Van Tol, Hubert H. M.
Author Affiliation, Ana.
Medicine; Medical Research Council Laboratories (Sickle Cell)
Dopamine D4 receptor variant in Africans, D4 valine 194 glycine, is insensitive to dopamine and clozapine: Report of a homozygous individual.
American Journal of Medical Genetics
Date of Publication
To determine whether this mutation had an effect on the properties of the dopamine D4 receptor, we constructed this variant and tested the sensitivity of the expressed protein with various drugs. It was found that the variant receptor was two orders of magnitude less sensitive to dopamine, clozapine and olanzapine. The variant receptor was insensitive to guanine nucleotide, indicating the absence of high-affinity state or functional state. The one 15-year-old individual found homozygous for this variant also had sickle cell disease. The patient revealed an overall pattern of low weight and no axillary or pubic hair....