title: Polymorphisms in the canine monoamine oxidase a (MAOA) gene: identification and variation among five broad dog breed groups.
abstract: BACKGROUND
  In humans, reduced activity of the enzyme monoamine oxidase type A (MAOA) due to genetic polymorphisms within theMAOAgene leads to increased brain neurotransmitter levels associated with aggression. In order to study MAOA genetic diversity in dogs, we designed a preliminary study whose objectives were to identify novel alleles in functionally important regions of the canineMAOAgene, and to investigate whether the frequencies of these polymorphisms varied between five broad breed groups (ancient, herding, mastiff, modern European, and mountain). Fifty dogs representing these five breed groups were sequenced.
  
  
  RESULTS
  A total of eleven polymorphisms were found. Seven were single nucleotide polymorphisms (SNPs; two exonic, two intronic and three in the promoter), while four were repeat intronic variations. The most polymorphic loci were repeat regions in introns 1, 2 (7 alleles) and 10 (3 alleles), while the exonic and the promoter regions were highly conserved. Comparison of the allele frequencies of certain microsatellite polymorphisms among the breed groups indicated a decreasing or increasing trend in the number of repeats at different microsatellite loci, as well as the highest genetic diversity for the ancient breeds and the lowest for the most recent mountain breeds, perhaps attributable to canine domestication and recent breed formation. While a specific promoter SNP (-212A > G) is rare in the dog, it is the major allele in wolves. Replacement of this ancestral allele in domestic dogs may lead to the deletion of heat shock factor binding sites on theMAOApromoter.
  
  
  CONCLUSIONS
  Dogs exhibit significant variation in certain intronic regions of theMAOAgene, while the coding and promoter regions are well-conserved. Distinct genetic differences were observed between breed groups. Further studies are now required to establish whether such polymorphisms are associated in any way with MAOA level and canine behaviour including aggression.
authors.affiliation: Ellis Pharmacogenomics Laboratory, College of Pharmacy and Health Sciences, Drake University, Des Moines, IA 50311 USA.
authors.forename: James
authors.identifier: 0000-0002-4178-1080
authors.initials: J
authors.lastname: Sacco
authors.affiliation: Ellis Pharmacogenomics Laboratory, College of Pharmacy and Health Sciences, Drake University, Des Moines, IA 50311 USA.
authors.forename: Andrew
authors.initials: A
authors.lastname: Ruplin
authors.affiliation: Ellis Pharmacogenomics Laboratory, College of Pharmacy and Health Sciences, Drake University, Des Moines, IA 50311 USA.
authors.forename: Paul
authors.initials: P
authors.lastname: Skonieczny
authors.affiliation: Ellis Pharmacogenomics Laboratory, College of Pharmacy and Health Sciences, Drake University, Des Moines, IA 50311 USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Ohman
keywords: Aggression; Breed difference; Canine; MAOA; Polymorphism