Human dopamine D4 receptor gene: frequent occurrence of a null allele and observation of homozygosity
Nöthen, Markus M.; Cichon, Sven; Hemmer, Susanne; Hebebrand, Johannes; Remschmidt, Helmut; Lehmkuhl, Gerd; Poustka, Fritz; Schmidt, Martin; Catalano, Marco; Fimmers, Rolf; Kömer, Judith; Rletschel, Marcella; Propping, Peter; Institute of Human Genetics, University of BonnWilhelmstraBe 31, 53111 Bonn; Hebebrand Johannes; Department of Child and Adolescent Psychiatry, University of Marburg; Remschmidt Helmut; Department of Child and Adolescent Psychiatry, University of Marburg; Lehmkuhl Gerd; Department of Child and Adolescent Psychiatry, University of Cologne; Poustka Fritz; Department of Child and Adolescent Psychiatry, University of Frankfurt/Main; Schmidt Martin; Department of Child and Adolescent Psychiatry, Zentralinstitut für Seelische Gesundheit, Mannheim; Catalano Marco; Psychiatric Branch, Department of Neuropsychiatric Sciences, University of Milan Medical School; Fimmers Rolf; Institute for Medical Statistics, University of Bonn; Kömer Judith; Department of Psychiatry, University of Bonn; Rletschel Marcella; Department of Psychiatry, University of Bonn
Журнал:
Human Molecular Genetics
Дата:
1994
Аннотация:
We report a null mutation in the first exon of the human dopamlne D4 receptor (DRD4) gene. The mutation Is predicted to result in a truncated non-functional protein and is the first natural nonsense mutation found In a human dopamlne receptor gene. It occurs with a frequency of about 2% in the general population. The distribution of the mutation was found to be similar In healthy controls and patients suffering from psychiatric diseases which included schizophrenia, bipolar affective disorder and Tourette's syndrome, indicating that heterozygosity for this mutation in the DRD4 gene is not causally related to major psychiatric diseases. We also Identified an adult male who Is homozygous for this mutation. He shows no symptoms of major psychiatric illness, but he displays somatic ailments Including acousticous neurInoma, obesity and some disturbances of the autonomic nervous system. Some of these symptoms might be related to the absence of functional DRD4 protein.
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