Characterization of the canine desmin ( DES) gene and evaluation as a candidate gene for dilated cardiomyopathy in the Dobermann

Canine-dilated cardiomyopathy (DCM) in dogs is a disease of the myocardium associated with dilatation and impaired contraction of the ventricles and is suspected to have a genetic cause. A missense mutation in the desmin gene ( DES) causes DCM in a human family. Human DCM closely resembles the canin...

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Bibliographic Details
Published in:Gene 2004-10, Vol.340 (2), p.241-249
Main Authors: Stabej, Polona, Imholz, Sandra, Versteeg, Serge A., Zijlstra, Carla, Stokhof, Arnold A., Domanjko-Petrič, Aleksandra, Leegwater, Peter A.J., van Oost, Bernard A.
Format: Article
Language:English
Subjects:
Animals
BAC clone
Cardiomyopathy, Dilated - genetics
Cardiomyopathy, Dilated - veterinary
Chromosome Mapping
Chromosomes, Artificial, Bacterial - genetics
Chromosomes, Mammalian - genetics
Cloning, Molecular
Desmin - genetics
DNA - chemistry
DNA - genetics
DNA - isolation & purification
Dog Diseases - genetics
Dogs - genetics
Female
FISH
Genetic Predisposition to Disease - genetics
Haplotypes
Heart disease
In Situ Hybridization, Fluorescence
Male
Microsatellite marker
Microsatellite Repeats
Molecular Sequence Data
Mutation
Pedigree
Polymorphism, Single Nucleotide
Sequence
Sequence Analysis, DNA
SNP
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Summary:Canine-dilated cardiomyopathy (DCM) in dogs is a disease of the myocardium associated with dilatation and impaired contraction of the ventricles and is suspected to have a genetic cause. A missense mutation in the desmin gene ( DES) causes DCM in a human family. Human DCM closely resembles the canine disease. In the present study, we evaluated whether DES gene mutations are responsible for DCM in Dobermann dogs. We have isolated bacterial artificial chromosome clones (BACs) containing the canine DES gene and determined the chromosomal location by fluorescence in situ hybrizidation (FISH). Using data deposited in the NCBI trace archive and GenBank, the canine DES gene DNA sequence was assembled and seven single nucleotide polymorphisms (SNPs) were identified. From the canine DES gene BAC clones, a polymorphic microsatellite marker was isolated. The microsatellite marker and four informative desmin SNPs were typed in a Dobermann family with frequent DCM occurrence, but the disease phenotype did not associate with a desmin haplotype. We concluded that mutations in the DES gene do not play a role in Dobermann DCM. Availability of the microsatellite marker, SNPs and DNA sequence reported in this study enable fast evaluation of the DES gene as a DCM candidate gene in other dog breeds with DCM occurrence.
ISSN:0378-1119
1879-0038
DOI:10.1016/j.gene.2004.06.050