Evaluation of 15 candidate genes for dilated cardiomyopathy in the Newfoundland dog

Dilated cardiomyopathy (DCM) is a disease of the myocardium, which causes heart failure and premature death. It has been described in humans and several domestic animals. In the Newfoundland dog, DCM is an autosomal dominant disease with late onset and reduced penetrance. We analyzed 15 candidate ge...

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Bibliographic Details
Published in:Journal of Heredity
Main Authors: Wiersma, Anje C., Stabej, Polona, Leegwater, Peter A J, Van Oost, Bernard A., Ollier, William E., Dukes-McEwan, Joanna
Format: Article in Journal/Newspaper
Language:English
Published: 2008
Subjects:
ACADEMIC JOURNAL PAPERS
ORIGINAL ARTICLES
Newfoundland
Online Access:https://research.manchester.ac.uk/en/publications/85c0501e-3801-49b6-a8f9-92064c4129bd
https://doi.org/10.1093/jhered/esm090
Description
Summary:Dilated cardiomyopathy (DCM) is a disease of the myocardium, which causes heart failure and premature death. It has been described in humans and several domestic animals. In the Newfoundland dog, DCM is an autosomal dominant disease with late onset and reduced penetrance. We analyzed 15 candidate genes for their involvement in DCM in the Newfoundland dog. Polymorphic microsatellite markers and single Nucleotide Polymorphisms were genotyped in 4 families of Newfoundland dogs segregating dilated cardiomyopathy for the genes encoding α-cardiac actin (ACTC), caveolin (CAVI), cysteine-rich protein 3 (CSRP3), LIM-domain binding factor 3 (LDB3), desmin (DES), lamin A/C (LMNA), myosin heavy polypeptide 7 (MYH7), delta-sarcoglycan (SGCD), troponin I (TNNTI3), troponin T (TNNT2), alpha-tropomyosin (TPMI), titin (TTN) and vinculin (VCL). A Logarithm of the odds (LOD) score of less than -2.0 in 2-point linkage analysis indicated exclusion of all but 2 genes, encoding CSRP3 and DES. A (LOD) score between -1.5 and -2.0 for CSRP3 and DES makes these genes unlikely causes of DCM in this dog breed. For the phospholamban (PLN) and titin cap (TTN) genes, a direct mutation screening approach was used. DNA sequence analysis of all exons showed no evidence that these genes are involved in DCM in the Newfoundland dog. © The American Genetic Association. 2007. All rights reserved.

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