Mapping cerebellar abiotrophy in Australian Kelpies

• Published in: Animal genetics Vol. 42; no. 6; pp. 675 - 678
• Main Authors: Shearman, J. R, Cook, R. W, McCowan, C, Fletcher, J. L, Taylor, R. M, Wilton, A. N
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01-12-2011; Wiley Subscription Services, Inc
• Subjects: Animals; Ataxia; Australian Kelpie; Canine SNP array; cerebellar abiotrophy; Cerebellar Ataxia - genetics; Cerebellar Ataxia - veterinary; Cerebellar Diseases - genetics; Cerebellar Diseases - veterinary; Chromosome Mapping; chromosomes; dog; Dog Diseases - genetics; Dogs; genes; Genetic markers; Genome-Wide Association Study; haplotypes; homozygosity; mapping; microsatellite repeats; Polymorphism, Single Nucleotide; recessive disease; seizures; single nucleotide polymorphism
• ISSN: 0268-9146; 1365-2052
• DOI: 10.1111/j.1365-2052.2011.02199.x

An autosomal recessive form of cerebellar abiotrophy occurs in Australian Kelpie dogs. Clinical signs range from mild ataxia with intention tremor to severe ataxia with seizures. A whole‐genome mapping analysis was performed using Affymetrix Canine SNP array v2 on 11 affected and 19 control dogs, but there was no significant association with disease. A homozygosity analysis identified a three megabase region likely to contain the disease mutation. The region spans 29.8–33 Mb on chromosome 3, for which all affected dogs were homozygous for a common haplotype. Microsatellite markers were developed in the candidate region for linkage analysis that resulted in a logarithm of odds score suggestive of linkage. The candidate region contains 29 genes, none of which are known to cause ataxia.