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Author (up) Charlier, Carole; Coppieters, Wouter; Rollin, Frédéric; Desmecht, Daniel; Agerholm, Jorgen S; Cambisano, Nadine; Carta, Eloisa; Dardano, Sabrina; Dive, Marc; Fasquelle, Corinne; Frennet, Jean-Claude; Hanset, Roger; Hubin, Xavier; Jorgensen, Claus; Karim, Latifa; Kent, Matthew; Harvey, Kirsten; Pearce, Brian R; Simon, Patricia; Tama, Nico; Nie, Haisheng; Vandeputte, Sébastien; Lien, Sigbjorn; Longeri, Maria; Fredholm, Merete; Harvey, Robert J; Georges, Michel url  doi
openurl
  Title Highly effective SNP-based association mapping and management of recessive defects in livestock Type Comparative Study
  Year 2008 Publication Nat Genet Abbrev Journal  
  Volume 40 Issue 4 Pages 449-54  
  Corporate Author Thesis  
  Address 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.  
  Keywords Amino Acid Sequence; Animals; Animals, Domestic; Breeding; Cattle; Cattle Diseases; Cells, Cultured; Chromosome Mapping; DNA Primers; Female; Gene Expression Profiling; Genes, Recessive; Genetic Markers; Humans; Linkage (Genetics); Male; Molecular Sequence Data; Oligonucleotide Array Sequence Analysis; Phenotype; Polymorphism, Single Nucleotide; Quantitative Trait Loci; Sequence Homology, Amino Acid  
  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.  
  Publisher Place Editor  
  Language eng Summary Language Orig Title  
  Series Editor Series Title Abbrev Series Title  
  Series Volume Series Issue Edition  
  Issn 1546-1718 Isbn Medium  
  Area Expedition Conference  
  Notes PUBMED: 18344998; Journal Article; Research Support, Non-U.S. Gov\'t Approved no  
  Location Torfinn Nome (torfinn.nome@umb.no)  
  Call Number Cigene @ torfinn.nome @ Serial 1314  
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