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Published on: July 6, 2022
The bovine dilated cardiomyopathy locus maps to a 1.0-Mb interval on chromosome 18
Marta Owczarek-Lipska1, Catherine Denis, André Eggen
1Institute of Genetics, Vetsuisse Faculty, University of Berne, Bremgartenstrasse 109a, 3001, Berne, Switzerland. marta.owczarek@itz.unibe.ch
Insights
Bovine dilated cardiomyopathy (BDCMP) is an inherited heart muscle disorder in cattle. This study fine-mapped the BDCMP genetic locus to a 1.0 Mb region on bovine chromosome 18, aiding future genetic research.
Area of Science:
- Veterinary Genetics
- Cardiovascular Pathology
- Animal Breeding
Background:
- Cardiomyopathies are myocardial diseases causing cardiac dysfunction, heart failure, and potentially sudden death, often requiring heart transplantation in humans.
- Bovine dilated cardiomyopathy (BDCMP) is an inherited heart muscle disorder affecting Holstein-Friesian cattle, characterized by cardiac enlargement, ventricular remodeling, and chamber dilatation.
- Previous research traced BDCMP to a specific Holstein-Friesian bull and proposed an autosomal recessive inheritance pattern, with the disease locus mapped to bovine chromosome 18 (BTA18).
Purpose of the Study:
- To fine-map the genetic locus associated with Bovine Dilated Cardiomyopathy (BDCMP).
- To refine the location of the BDCMP disease locus on bovine chromosome 18 (BTA18) using advanced genetic mapping techniques.
Main Methods:
- Employed a combined strategy of homozygosity mapping and association study for fine mapping the BDCMP locus.
- Constructed a Bacterial Artificial Chromosome (BAC) contig of 2.9 Mb to establish marker order on BTA18.
- Utilized microsatellite markers, including DIK3006 and MSBDCMP51, to delineate the critical interval.
Main Results:
- Successfully fine-mapped the BDCMP locus to a refined interval of 1.0 Mb on BTA18.
- Identified the critical disease locus as a gene-rich region.
- Established the flanking microsatellite markers for the BDCMP locus as DIK3006 and MSBDCMP51.
Conclusions:
- The BDCMP genetic locus has been precisely localized to a 1.0 Mb region on BTA18, flanked by specific microsatellite markers.
- This refined genetic map provides a foundation for identifying the causative gene(s) responsible for BDCMP.
- Understanding the genetic basis of BDCMP is crucial for breeding programs aimed at reducing the incidence of this cardiac disorder in cattle.
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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