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The bovine dilated cardiomyopathy locus maps to a 1.0-Mb interval on chromosome 18

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Abstract

Cardiomyopathies are myocardial diseases that lead to cardiac dysfunction, heart failure, arrhythmia, and sudden death. In human medicine, cardiomyopathies frequently warrant heart transplantation in children and adults. Bovine dilated cardiomyopathy (BDCMP) is a heart muscle disorder that has been observed during the last 30 years in cattle of Holstein-Friesian origin. In Switzerland BDCMP affects Swiss Fleckvieh and Red Holstein breeds. BDCMP is characterized by a cardiac enlargement with ventricular remodeling and chamber dilatation. The common symptoms in affected animals are subacute subcutaneous edema, congestion of the jugular veins, and tachycardia with gallop rhythm. A cardiomegaly with dilatation and hypertrophy of all heart chambers, myocardial degeneration, and fibrosis are typical postmortem findings. It was shown that all BDCMP cases reported worldwide traced back to a red factor-carrying Holstein-Friesian bull, ABC Reflection Sovereign. An autosomal recessive mode of inheritance was proposed for BDCMP. Recently, the disease locus was mapped to a 6.7-Mb interval MSBDCMP06-BMS2785 on bovine Chr 18 (BTA18). In the present study the BDCMP locus was fine mapped by using a combined strategy of homozygosity mapping and association study. A BAC contig of 2.9 Mb encompassing the crucial interval was constructed to establish the correct marker order on BTA18. We show that the disease locus is located in a gene-rich interval of 1.0 Mb and is flanked by the microsatellite markers DIK3006 and MSBDCMP51.

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Acknowledgments

The authors thank Brigitta Colomb for technical support. This research was supported by the Swiss National Foundation (Project 3100AG-108230).

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Authors and Affiliations

  1. Institute of Genetics, Vetsuisse Faculty, University of Berne, Bremgartenstrasse 109a, 3001, Berne, Switzerland

    Marta Owczarek-Lipska, Tosso Leeb, Gaudenz Dolf & Martin H. Braunschweig

  2. Laboratoire de Génétique biochimique et de Cytogénétique, UR339, INRA-CRJ, 78350, Jouy-en-Josas, France

    Catherine Denis & André Eggen

  3. Institute of Animal Pathology, Vetsuisse Faculty, University of Berne, 3001, Berne, Switzerland

    Horst Posthaus

Authors
  1. Marta Owczarek-Lipska
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  2. Catherine Denis
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  3. André Eggen
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  4. Tosso Leeb
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  5. Horst Posthaus
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  6. Gaudenz Dolf
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  7. Martin H. Braunschweig
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Correspondence to Marta Owczarek-Lipska.

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Owczarek-Lipska, M., Denis, C., Eggen, A. et al. The bovine dilated cardiomyopathy locus maps to a 1.0-Mb interval on chromosome 18. Mamm Genome 20, 187–192 (2009). https://doi.org/10.1007/s00335-009-9171-z

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  • DOI: https://doi.org/10.1007/s00335-009-9171-z

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