Systematic screening for mutations in the promoter and the coding region of the 5-HT(1A) gene

J. Erdmann, D. Shimron-Abarbanell, S. Cichon, M. Albus, W. Maier, D. Lichtermann, J. Minges, U. Reuner, E. Franzek, M. A. Ertl, J. Hebebrand, H. Remschmidt, G. Lehmkuhl, F. Poustka, M. Schmidt, R. Fimmers, J. Korner, M. Rietschel, P. Propping, M. M. Nothen*

*Corresponding author for this work
67 Citations (Scopus)


In the present study we sought to identify genetic variation in the 5- HT(1A) receptor gene which through alteration of protein function or level of expression might contribute to the genetic predisposition to neuropsychiatric diseases. Genomic DNA samples from 159 unrelated subjects (including 45 schizophrenic, 46 bipolar affective, and 43 patients with Tourette's syndrome, as well as 25 healthy controls) were investigated by single-strand conformation analysis. Overlapping PCR (polymerase chain reaction) fragments covered the whole coding sequence as well as the 5' untranslated region of the 5-HT(1A) gene. The region upstream to the coding sequence we investigated contains a functional promoter. We found two rare nucleotide sequence variants. Both mutations are located in the coding region of the gene: a coding mutation (A→G) in nucleotide position 82 which leads to an amino acid exchange (Ile→Val) in position 28 of the receptor protein and a silent mutation (C→T) in nucleotide position 549. The occurrence of the Ile-28-Val substitution was studied in an extended sample of patients (n = 352) and controls (n = 210) but was found in similar frequencies in all groups. Thus, this mutation is unlikely to play a significant role in the genetic predisposition to the diseases investigated. In conclusion, our study does not provide evidence that the 5-HT(1A) gene plays either a major or a minor role in the genetic predisposition to schizophrenia, bipolar affective disorder, or Tourette's syndrome.

Original languageEnglish
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number5
Pages (from-to)393-399
Number of pages7
Publication statusPublished - 1995

Research Areas and Centers

  • Research Area: Medical Genetics


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