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Nat Genet. 2008 Apr;40(4):449-54. doi: 10.1038/ng.96. Epub 2008 Mar 16.

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

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1
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.

Abstract

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.

PMID:
18344998
DOI:
10.1038/ng.96
[Indexed for MEDLINE]
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