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.
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Acknowledgments
We thank Oskar Grüter and the Schweizer Braunviehzuchtverband, Zug, for invaluable help in collecting samples and pedigrees and financial support. André Eggen, INRA, is acknowledged for providing a BAC clone. The authors thank Swissgenetics, Zollikofen, for providing data and semen samples. The Associazione Nazionale Allevatori Razza Bruna Italiana, Bussolengo, is acknowledged for collecting samples and providing data.
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Supplementary Fig. 1
Linkage analysis of the 29 bovine autosomes (BTA). The full curves represent the LOD value, with the scale on the left side. The dotted curves characterize the fraction of linked families (α) and the columns symbolize the PIC value of the markers, with scale on the right side (EPS 1811 kb)
Supplementary Fig. 2
Inheritance of the arachnomelia-associated haplotype (A) and the ancestral putative wild-type haplotype of this bovine Chr 5 segment within the pedigree of two homozygous A-carrier bulls. DNA samples of the six numbered animals were available for analysis (EPS 355 kb)
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Drögemüller, C., Rossi, M., Gentile, A. et al. Arachnomelia in Brown Swiss cattle maps to chromosome 5. Mamm Genome 20, 53–59 (2009). https://doi.org/10.1007/s00335-008-9157-2
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DOI: https://doi.org/10.1007/s00335-008-9157-2