A novel locus for dilated cardiomyopathy maps to canine chromosome 8.
Dilated cardiomyopathy (DCM), the most common form of cardiomyopathy, often leads to heart failure and sudden death. While a substantial proportion of DCMs are inherited, mutations responsible for the majority of DCMs remain unidentified. A genome-wide linkage study was performed to identify the locus responsible for an autosomal recessive inherited form of juvenile DCM (JDCM) in Portuguese water dogs using 16 families segregating the disease. Results link the JDCM locus to canine chromosome 8 with two-point and multipoint lod scores of 10.8 and 14, respectively. The locus maps to a 3.9-Mb region, with complete syntenic homology to human chromosome 14, that contains no genes or loci known to be involved in the development of any type of cardiomyopathy. This discovery of a DCM locus with a previously unknown etiology will provide a new gene to examine in human DCM patients and a model for testing therapeutic approaches for heart failure.
Werner
Petra
P
Section of Medical Genetics, Department of Clinical Studies-Philadelphia, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104-6010, USA. pwerner@vet.upenn.edu
Raducha
Michael G
MG
Prociuk
Ulana
U
Sleeper
Meg M
MM
Van Winkle
Thomas J
TJ
Henthorn
Paula S
PS
D000818:Animals; D002311:Cardiomyopathy, Dilated / Q000235:genetics / Q000662:veterinary*; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs; D008040:Genetic Linkage; D006801:Humans; D008126:Lod Score; D009154:Mutation; D010375:Pedigree