00709-A: A DNA Marker for Neonatal Encephalopathy in Standard Poodles
Grant Status: Closed
Grant Amount: $12,933.6
Dennis P. O'Brien, DVM, PhD; University of Missouri, Columbia
January 1, 2006 - June 30, 2006
Sponsor(s):
Breed(s): Standard Poodle
Research Program Area: Neurology
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Abstract
We first recognized a progressive, fatal brain disease (neonatal encephalopathy) in a litter of Standard Poodle pups in 1997. Subsequently, we identified a total of 18 pups from throughout the US who died of the condition. With the help of the breeders and the Poodle Club of America, we collected DNA samples from the affected pups and family members and have mapped the gene responsible to a small segment of canine chromosome 36. We propose further narrowing the location of the gene to a reasonable number of potential candidates by developing additional microsatellite markers within the target region and identifying recombinations. We will then sequence the genes within this region, beginning with the genes that are most likely to affect nervous system function. When the disease causing mutation is found, we will develop an assay to detect the mutant gene and screen all the families that have had DNA submitted to identify carriers. We will then publish the mutation so that the test will become readily available for breeders and the gene can be eliminated from the breed.Publication(s)
Chen, X., Johnson, G. S., Schnabel, R. D., Taylor, J. F., Johnson, G. C., Parker, H. G., … O’Brien, D. P. (2008). A neonatal encephalopathy with seizures in Standard Poodle Dogs with a missense mutation in the canine ortholog of ATF2. Neurogenetics, 9(1), 41–49. https://doi.org/10.1007/s10048-007-0112-2
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