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Mapping cerebellar abiotrophy in Australian Kelpies.
J R Shearman1, R W Cook, C McCowan
1School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, NSW 2052, Australia.
Animal Genetics
|November 1, 2011
Summary
A genetic study identified a specific DNA region linked to cerebellar abiotrophy in Australian Kelpie dogs. This finding aids in understanding and diagnosing this neurological disorder in the breed.
Area of Science:
- Veterinary Genetics
- Canine Neurology
- Animal Disease Research
Background:
- Cerebellar abiotrophy is a neurological disorder affecting Australian Kelpie dogs.
- Clinical signs include ataxia and seizures, with varying severity.
- Understanding the genetic basis is crucial for diagnosis and potential treatments.
Purpose of the Study:
- To identify the genetic mutation responsible for autosomal recessive cerebellar abiotrophy in Australian Kelpies.
- To perform whole-genome mapping and homozygosity analysis to locate the disease-causing gene.
- To develop diagnostic tools for this canine neurological condition.
Main Methods:
- Whole-genome mapping using Affymetrix Canine SNP array v2.
- Homozygosity analysis to identify shared DNA regions in affected dogs.
- Microsatellite marker development and linkage analysis within the candidate region.
Main Results:
- No significant association found with whole-genome mapping.
- A 3-megabase homozygous region on chromosome 3 identified in affected dogs.
- Linkage analysis showed suggestive evidence for linkage within the candidate region.
Conclusions:
- A specific chromosomal region on chromosome 3 is strongly associated with cerebellar abiotrophy in Australian Kelpies.
- Further investigation of genes within this region is needed to pinpoint the causative mutation.
- This research provides a foundation for developing genetic tests for the disease.
