Highly effective SNP-based association mapping and management of recessive defects in livestock.

Charlier, C., Coppieters, W., Rollin, F., Desmecht, D., Agerholm, J.S., Cambisano, N., Carta, E., Dardano, S., Dive, M., Fasquelle, C., Frennet, J-C., Hanset, R., Hubin, X., Jorgensen, C., Karim, L., Kent, M., Harvey, K., Pearce, B.R., Simon, P., Tama, N., Nie, H., Vandeputte, S., Lien, S., Longeri, M., Fredholm, M., Harvey, R.J. and Georges, M. (2008) Highly effective SNP-based association mapping and management of recessive defects in livestock. Nature Genetics, 40 . pp. 449-454. 10.1038/ng.96.

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DOI: 10.1038/ng.96


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.

Item Type:Article
Additional Information:Full text available in print from the School of Pharmacy Library.
Departments, units and centres:Department of Pharmacology > Department of Pharmacology
ID Code:1169
Journal or Publication Title:Nature Genetics
Deposited By:Library Staff
Deposited On:08 Apr 2009 11:38
Last Modified:10 Nov 2011 09:49

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