Identification of the gene causing chondrodysplasia in dexter cattle

Cavanagh J.A.L., Tammen I., Windsor P.A., Nicholas F.W., Raadsma H.W.. 2002. Identification of the gene causing chondrodysplasia in dexter cattle. In : Second international symposium on Candidate Genes for Animal Health (C.G.A.H), Montpellier, France, August 16-18th 2002 : abstracts. CIRAD, INRA. Montpellier : CIRAD, Résumé, 1 p. International Symposium on Candidate Genes for Animal Health. 2, Montpellier, France, 16 August 2002/18 August 2002.

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Additional Information : Session 4 : Genetic resistance / susceptibility to non-infectious diseases

Abstract : Dexter cattle are a small breed of cattle originating in Ireland that have been bred in Australia for several decades. There have been reports of mutant, aborted foetuses in this breed of cattle, described as chondrodysplastic foetuses (or "bulldog" calves). The affected foetuses display disproportionate dwarfism, a short vertebral column, marked micromelia, a relatively large head with a retruded muzzle, cleft palate, protruding tongue and a large abdominal hernia. Dexter chondrodysplasia is inherited in an incompletely dominant manner. As part of an approach to controlling the disease in Australia, Dexter Cattle Australia (DCA) chose to initiate and support research to develop a DNA-test to identify carrier animals, prevent carrier x carrier matings, and hence reduce the incidence of chondrodysplastic foetuses. The aim was to find the gene responsible for chondrodysplasia, and develop a DNA-test. Potential candidate genes were identified, and homozygosity mapping in regions predicted to contain candidate genes identified a region of interest. A candidate gene predicted to be in the region of interest was mapped on the bovine linkage map confirming location in the region of interest. The candidate gene was screened for disease causing mutations. One disease causing mutation was identified in the candidate gene. The mutation is a 4 bp insertion causing a frame shift which leads to a premature termination codon. The resulting protein was predicted to contain less than one third of the original amino acid sequence. A DNA-test was developed to identify animals heterozygous for the mutation. The PCR test is based on fragment length analysis and will be available to Dexter breeders this year. There is an indication of a second, yet unidentified mutation in an unrelated bull, causing chondrodysplasia. The search for the second mutation will continue and if found will add accuracy to the initial DNA-test. (Texte intégral)

Mots-clés Agrovoc : Maladie des animaux, Foetus, Bétail

Mots-clés géographiques Agrovoc : Australie

Mots-clés complémentaires : Génétique cellulaire

Classification Agris : L10 - Animal genetics and breeding

Auteurs et affiliations

  • Cavanagh J.A.L., University of Sydney (AUS)
  • Tammen I., University of Sydney (AUS)
  • Windsor P.A., NSW Agriculture (AUS)
  • Nicholas F.W., University of Sydney (AUS)
  • Raadsma H.W., University of Sydney (AUS)

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