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

Research output: Contribution to journalJournal articleResearchpeer-review

Carole Charlier, Wouter Coppieters, Frédéric Rollin, Daniel Desmecht, Jørgen Steen Agerholm, Nadine Cambisano, Eloisa Carta, Sabrina Dardano, Marc Dive, Corinne Fasquelle, Jean-Claude Frennet, Roger Hanset, Xavier Hubin, Claus Bøttcher Jørgensen, Latifa Karim, Matthew Kent, Kirsten Harvey, Brian R. Pearce, Patricia Simon, Nico Tama & 7 others Haisheng Nie, Sébastien Vandeputte, Sigbjorn Lien, Maria Longeri, Merete Fredholm, Robert J. Harvey, Michel Georges

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 thee: 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 practive, allowing marker assisted selection against the defects through avoidance of at-risk matings.
Original languageEnglish
JournalNature Genetics
Issue number4
Pages (from-to)449-454
Number of pages6
Publication statusPublished - 2008

ID: 8104877