title: Identification of a mutation in the CHAT gene of Old Danish Pointing Dogs affected with congenital myasthenic syndrome.
abstract: The presence of a recessive inherited muscle disease in Old Danish Pointing Dogs has been well known for years. Comparisons of this disease with myasthenic diseases of other dog breeds and humans have pointed toward a defect in the synthesis of the neurotransmitter acetylcholine possibly due to decreased activity of the enzyme choline acetyltransferase. We sequenced exons 5-18 of the gene encoding choline acetyltransferase (CHAT) in 2 affected and 2 unaffected dogs and identified a G to A missense mutation in exon 6. The mutation causes a valine to methionine substitution and segregates in agreement with the inheritance of the disease. The mutation was not detected in 50 dogs representing 25 other dog breeds. A DNA test has been developed and is now available to the breeders of Old Danish Pointing Dogs.
authors.affiliation: Department of Animal and Veterinary Basic Sciences, Groennegaardsvej 3, the Royal Veterinary and Agricultural University, 1870 Frederiksberg C, Denmark. hfp@kvl.dk
authors.forename: Helle Friis
authors.initials: HF
authors.lastname: Proschowsky
authors.forename: Annette
authors.initials: A
authors.lastname: Flagstad
authors.forename: Susanna
authors.initials: S
authors.lastname: Cirera
authors.forename: Claus B
authors.initials: CB
authors.lastname: Joergensen
authors.forename: Merete
authors.initials: M
authors.lastname: Fredholm
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D000818:Animals; D000831:Animals, Newborn; D020274:Autoimmune Diseases of the Nervous System / Q000235:genetics / Q000662:veterinary*; D002795:Choline O-Acetyltransferase / Q000235:genetics*; D017931:DNA Primers; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs; D005091:Exons; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D020511:Neuromuscular Junction Diseases / Q000235:genetics / Q000662:veterinary*
chemical_list: D017931:DNA Primers; D002795:Choline O-Acetyltransferase