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Title: Mutational analysis of the human MAOA gene

The monoamine oxidases (MAO-A and MAO-B) are the enzymes primarily responsible for the degradation of amine neurotransmitters, such as dopamine, norepinephrine, and serotonin. Wide variations in activity of these isozymes have been reported in control humans. The MAOA and MAOB genes are located next to each other in the p11.3-11.4 region of the human X chromosome. Our recent documentation of an MAO-A-deficiency state, apparently associated with impulsive aggressive behavior in males, has focused attention on genetic variations in the MAOA gene. In the present study, variations in the coding sequence of the MAOA gene were evaluated by RT-PCR, SSCP, and sequencing of mRNA or genomic DNA in 40 control males with >100-fold variations in MAOA activity, as measured in cultured skin fibroblasts. Remarkable conservation of the coding sequence was found, with only 5 polymorphisms observed. All but one of these were in the third codon position and thus did not alter the deduced amino acid sequence. The one amino acid alteration observed, lys{r_arrow}arg, was neutral and should not affect the structure of the protein. This study demonstrates high conservation of coding sequence in the human MAOA gene in control males, and provides primer sets which can be used to searchmore » genomic DNA for mutations in this gene in males with neuropsychiatric conditions. 47 refs., 1 fig., 2 tabs.« less
Authors:
; ; ;  [1] ;  [2]
  1. Harvard Medical School, Boston, MA (United States)
  2. VA Medical Center, West Roxbury, MA (United States)
Publication Date:
OSTI Identifier:
437203
Resource Type:
Journal Article
Resource Relation:
Journal Name: American Journal of Medical Genetics; Journal Volume: 67; Journal Issue: 1; Other Information: PBD: 16 Feb 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN X CHROMOSOME; GENETIC MAPPING; AMINE OXIDASES; GENE MUTATIONS; ENZYME ACTIVITY; DNA SEQUENCING; STRUCTURE-ACTIVITY RELATIONSHIPS; BEHAVIOR; SEX DEPENDENCE; MALES; HEREDITARY DISEASES; METABOLIC DISEASES; POLYMERASE CHAIN REACTION; CODONS; AMINO ACID SEQUENCE