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

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


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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP-Binding Cassette Transporters / genetics
  • Amino Acid Sequence
  • Animals
  • Animals, Domestic / genetics*
  • Animals, Domestic / growth & development
  • Breeding
  • Cattle
  • Cattle Diseases / genetics*
  • Cells, Cultured
  • Chromosome Mapping*
  • DNA Primers / chemistry
  • Dystonia / congenital
  • Dystonia / genetics
  • Dystonia / veterinary
  • Female
  • Gene Expression Profiling
  • Genes, Recessive / genetics*
  • Genetic Linkage
  • Genetic Markers / genetics*
  • Glycine Plasma Membrane Transport Proteins / genetics
  • Humans
  • Male
  • Molecular Sequence Data
  • Oligonucleotide Array Sequence Analysis
  • Phenotype
  • Polymorphism, Single Nucleotide / genetics*
  • Quantitative Trait Loci
  • Sarcoplasmic Reticulum Calcium-Transporting ATPases / genetics
  • Sequence Homology, Amino Acid


  • ATP-Binding Cassette Transporters
  • DNA Primers
  • Genetic Markers
  • Glycine Plasma Membrane Transport Proteins
  • Sarcoplasmic Reticulum Calcium-Transporting ATPases