TY - JOUR
T1 - Identification of genetic variation in the human serotonin 1Dβ receptor gene
AU - Nöthen, Markus M.
AU - Erdmann, Jeanette
AU - Shimron-Abarbanell, Daphne
AU - Propping, Peter
PY - 1994/12/15
Y1 - 1994/12/15
N2 - Disturbances of serotonergic pathways have been implicated in a wide variety of neuropsychiatric disorders such as depression, anxiety, migraine, and substance abuse. Genetic variation in genes coding for serotonin receptor proteins might well be involved in the genetic predisposition to these diseases and/or of pharmacogenetic relevance. Genomic samples from 46 unrelated healthy subjects were investigated by single-strand conformation analysis (SSCA) to screen for genetic variation in the human serotonin 1Dβ (5-HT1Dβ) receptor gene. Overlapping PCR (polymerase chain reaction) fragments covered the whole coding sequence as well as 5′ untranslated regions of the 5-HT1Dβ gene. Four nucleotide sequence variants were found: a coding mutation in nucleotide position 371 which leads to an amino acid exchange (Phe→Cys) in position 124 of the receptor protein and three mutations in the 5′ flanking region. For all mutations specific PCR-based assays were developed which allow rapid genotyping in populations and families. To our knowledge, the Phe-124-Cys substitution is the first natural occurring molecular variant which has been identified for the 5-HT1Dβ receptor so far.
AB - Disturbances of serotonergic pathways have been implicated in a wide variety of neuropsychiatric disorders such as depression, anxiety, migraine, and substance abuse. Genetic variation in genes coding for serotonin receptor proteins might well be involved in the genetic predisposition to these diseases and/or of pharmacogenetic relevance. Genomic samples from 46 unrelated healthy subjects were investigated by single-strand conformation analysis (SSCA) to screen for genetic variation in the human serotonin 1Dβ (5-HT1Dβ) receptor gene. Overlapping PCR (polymerase chain reaction) fragments covered the whole coding sequence as well as 5′ untranslated regions of the 5-HT1Dβ gene. Four nucleotide sequence variants were found: a coding mutation in nucleotide position 371 which leads to an amino acid exchange (Phe→Cys) in position 124 of the receptor protein and three mutations in the 5′ flanking region. For all mutations specific PCR-based assays were developed which allow rapid genotyping in populations and families. To our knowledge, the Phe-124-Cys substitution is the first natural occurring molecular variant which has been identified for the 5-HT1Dβ receptor so far.
UR - http://www.scopus.com/inward/record.url?scp=0028650323&partnerID=8YFLogxK
U2 - 10.1006/bbrc.1994.2792
DO - 10.1006/bbrc.1994.2792
M3 - Journal articles
C2 - 7802650
AN - SCOPUS:0028650323
SN - 0006-291X
VL - 205
SP - 1194
EP - 1200
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
IS - 2
ER -