Letter abstract
Nature Genetics 40, 449 - 454 (2008)
Published online: 16 March 2008 | doi:10.1038/ng.96
Highly effective SNP-based association mapping and management of recessive defects in livestock
Carole Charlier1, Wouter Coppieters1, Frédéric Rollin2, Daniel Desmecht3, Jorgen S Agerholm4, Nadine Cambisano1, Eloisa Carta5, Sabrina Dardano6, Marc Dive, Corinne Fasquelle1, Jean-Claude Frennet, Roger Hanset1,11, Xavier Hubin7, Claus Jorgensen8, Latifa Karim1, Matthew Kent9, Kirsten Harvey5, Brian R Pearce5, Patricia Simon1, Nico Tama1, Haisheng Nie1,10, Sébastien Vandeputte2, Sigbjorn Lien9, Maria Longeri6, Merete Fredholm8, Robert J Harvey5 & Michel Georges1
The widespread use of elite sires by means of artificial insemination in livestock breeding leads to the frequent emergence of recessive genetic defects, which cause significant economic and animal welfare concerns. Here we show that the availability of genome-wide, high-density SNP panels, combined with the typical structure of livestock populations, markedly accelerates the positional identification of genes and mutations that cause inherited defects. We report the fine-scale mapping of five recessive disorders in cattle and the molecular basis for three of these: congenital muscular dystony (CMD) types 1 and 2 in Belgian Blue cattle and ichthyosis fetalis in Italian Chianina cattle. Identification of these causative mutations has an immediate translation into breeding practice, allowing marker assisted selection against the defects through avoidance of at-risk matings.
- Unit of Animal Genomics, GIGA-Research and Department of Animal Sciences, Faculty of Veterinary Medicine, University of Liège (B34), 1 Avenue de l'Hôpital, 4000 Liège, Belgium.
- Department of Large Animal Internal Medicine, Faculty of Veterinary Medicine, University of Liège, 20 Boulevard de Colonster, 4000 Liège, Belgium.
- Unit of Pathology, Department of Morphology and Pathology, Faculty of Veterinary Medicine, University of Liège, 20 Boulevard de Colonster, 4000 Liège, Belgium.
- Department of Veterinary Pathobiology, Faculty of Life Sciences, University of Copenhagen, 15 Groennegaardsvej, 1870 Frederiksberg C, Denmark.
- Department of Pharmacology, The School of Pharmacy, 29-39 Brunswick Square, London WC1N 1AX, UK.
- Department of Animal Science, Faculty of Veterinary Medicine, University of Milan, 10 Via Celoria, 20133 Milan, Italy.
- Recherche & Développement, Association Wallonne de l'Elevage, 4 Rue des Champs Elysées, 5590 Ciney, Belgium.
- Division of Genetics and Bioinformatics, Department of Animal and Veterinary Basic Sciences, Faculty of Life Sciences, University of Copenhagen, 3 Groennegaardsvej, 1870 Frederiksberg C, Denmark.
- Centre for Integrative Genetics, Department of Animal and Aquacultural Sciences, Norwegian University of Life Sciences, PO Box 5003, 1432 Aas, Norway.
- Present address: Animal Breeding and Genetics Group, Wageningen University, Wageningen, The Netherlands.
- Deceased.
Correspondence to: Michel Georges1 e-mail: michel.georges@ulg.ac.be