Mutational analysis of the human MAOA gene

Journal Article · Fri Feb 16 04:00:00 EST 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19960216)67:1<92::AID-AJMG16>3.0.CO;2-K· OSTI ID:437203

Tivol, E A; Shalish, C; Schuback, D E; Breakefield, X O ^[1]; Hsu, Yun-Pung ^[2]

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1. Harvard Medical School, Boston, MA (United States)
2. VA Medical Center, West Roxbury, MA (United States)

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 search genomic DNA for mutations in this gene in males with neuropsychiatric conditions. 47 refs., 1 fig., 2 tabs.

• OSTI ID: 437203
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 1 Vol. 67; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AMINE OXIDASES
AMINO ACID SEQUENCE
BEHAVIOR
CODONS
DNA SEQUENCING
ENZYME ACTIVITY
GENE MUTATIONS
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN X CHROMOSOME
MALES
METABOLIC DISEASES
POLYMERASE CHAIN REACTION
SEX DEPENDENCE
STRUCTURE-ACTIVITY RELATIONSHIPS