Arachnomelia in Brown Swiss cattle maps to chromosome 5 |
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Authors: | Cord Drögemüller Marco Rossi Arcangelo Gentile Stefania Testoni Hannes Jörg Gerald Stranzinger Michaela Drögemüller Marie-Louise Glowatzki-Mullis Tosso Leeb |
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Institution: | (1) Institute of Genetics, Vetsuisse Faculty, University of Berne, Bremgartenstrasse 109a, 3001 Berne, Switzerland;(2) Veterinary Clinical Departement, University of Bologna, Bologna , Italy;(3) Department of Veterinary Clinical Science, University of Padova, Padova, Italy;(4) Institute of Animal Sciences, ETH Zurich, Zurich, Switzerland |
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Abstract: | Arachnomelia in Brown Swiss cattle is a monogenic autosomal recessive inherited congenital disorder of the skeletal system
giving affected calves a spidery look (OMIA ID 000059). Over a period of 20 years 15 cases were sampled in the Swiss and Italian
Brown cattle population. Pedigree data revealed that all affected individuals trace back to a single acknowledged carrier
founder sire. A genome scan using 240 microsatellites spanning the 29 bovine autosomes showed homozygosity at three adjacent
microsatellite markers on bovine Chr 5 in all cases. Linkage analysis confirmed the localization of the arachnomelia mutation
in the region of the marker ETH10. Fine-mapping and haplotype analysis using a total of 34 markers in this region refined the critical region of the arachnomelia
locus to a 7.19-Mb interval on bovine Chr 5. The disease-associated IBD haplotype was shared by 36 proven carrier animals
and allows marker-assisted selection. As the corresponding human and mouse chromosome segments do not contain any clear functional
candidate genes for this disorder, the mutation causing arachnomelia in the Brown Swiss cattle might help to identify an unknown
gene in bone development.
Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users. |
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