The locus for bovine dilated cardiomyopathy maps to chromosome 18

Guziewicz, K E; Owczarek, Marta; Küffer, J; Schelling, C; Tontis, A; Denis, C; Eggen, A; Leeb, Tosso; Dolf, Gaudenz; Braunschweig, Martin (2007). The locus for bovine dilated cardiomyopathy maps to chromosome 18. Animal genetics, 38(3), pp. 265-9. Oxford: Blackwell 10.1111/j.1365-2052.2007.01596.x

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Bovine dilated cardiomyopathy (BDCMP) is a severe and terminal disease of the heart muscle observed in Holstein-Friesian cattle over the last 30 years. There is strong evidence for an autosomal recessive mode of inheritance for BDCMP. The objective of this study was to genetically map BDCMP, with the ultimate goal of identifying the causative mutation. A whole-genome scan using 199 microsatellite markers and one SNP revealed an assignment of BDCMP to BTA18. Fine-mapping on BTA18 refined the candidate region to the MSBDCMP06-BMS2785 interval. The interval containing the BDCMP locus was confirmed by multipoint linkage analysis using the software loki. The interval is about 6.7 Mb on the bovine genome sequence (Btau 3.1). The corresponding region of HSA19 is very gene-rich and contains roughly 200 genes. Although telomeric of the marker interval, TNNI3 is a possible positional and a functional candidate for BDCMP given its involvement in a human form of dilated cardiomyopathy. Sequence analysis of TNNI3 in cattle revealed no mutation in the coding sequence, but there was a G-to-A transition in intron 6 (AJ842179:c.378+315G>A). The analysis of this SNP using the study's BDCMP pedigree did not conclusively exclude TNNI3 as a candidate gene for BDCMP. Considering the high density of genes on the homologous region of HSA19, further refinement of the interval on BTA18 containing the BDCMP locus is needed.

Item Type:

Journal Article (Original Article)

Division/Institute:

05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH)
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
05 Veterinary Medicine > Other Institutions > Teaching Staff, Vetsuisse Faculty

UniBE Contributor:

Owczarek, Marta; Leeb, Tosso; Dolf, Gaudenz and Braunschweig, Martin

Subjects:

500 Science > 590 Animals (Zoology)
600 Technology > 630 Agriculture

ISSN:

0268-9146

Publisher:

Blackwell

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:52

Last Modified:

16 Feb 2015 08:10

Publisher DOI:

10.1111/j.1365-2052.2007.01596.x

PubMed ID:

17433012

Web of Science ID:

000247109500012

URI:

https://boris.unibe.ch/id/eprint/22146 (FactScience: 32037)

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