Journal of Heredity Advance Access originally published online on June 22, 2007
Journal of Heredity 2007 98(5):539-543; doi:10.1093/jhered/esm026
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Identification of a Mutation in the CHAT Gene of Old Danish Pointing Dogs Affected with Congenital Myasthenic Syndrome
From the Department of Animal and Veterinary Basic Sciences, Groennegaardsvej 3, the Royal Veterinary and Agricultural University, 1870 Frederiksberg C, Denmark (Proschowsky, Cirera, Joergensen, and Fredholm); and the Department of Small Animal Clinical Sciences, Dyrlaegevej 16, the Royal Veterinary and Agricultural University, 1870 Frederiksberg C, Denmark (Flagstad)
Address correspondence to H. F. Proschowsky at the address above, or e-mail: hfp{at}kvl.dk.
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.
This paper was delivered at the 3rd International Conference on the Advances in Canine and Feline Genomics, School of Veterinary Medicine, University of California, Davis, CA, August 3–5, 2006.