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Mapping cerebellar abiotrophy in Australian Kelpies
Author(s) -
Shearman J. R.,
Cook R. W.,
McCowan C.,
Fletcher J. L.,
Taylor R. M.,
Wilton A. N.
Publication year - 2011
Publication title -
animal genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.756
H-Index - 81
eISSN - 1365-2052
pISSN - 0268-9146
DOI - 10.1111/j.1365-2052.2011.02199.x
Subject(s) - biology , genetics , ataxia , genetic linkage , haplotype , microsatellite , disease gene identification , cerebellar ataxia , candidate gene , snp array , mutation , gene , genotype , allele , single nucleotide polymorphism , exome sequencing , neuroscience
Summary 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.