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24, chemin de Borde Rouge –Auzeville – CS52627
31326 Castanet Tolosan CEDEX - France

Dernière mise à jour : Mai 2018

Menu Logo Principal AgroParisTech Université Paris-Saclay


GABI : Génétique Animale et Biologie IntégrativeUnité Mixte de Recherche INRA - AgroParisTech

A cow with a deer's head and a man with a bird's head…

As soon as the National Observatory for Bovine Anomalies (ONAB) was created, breeders of the Montbeliard breed allowed the collection of individuals affected with a generalized caprine-like hypoplasia.

The affected animals have delayed growth, a long and delicate head ressembling that of a "deer" and coat color defects. Using homozygosity mapping and sequencing of the identified region, a mutation of the CEP250 gene coding for the C-Nap1 protein was identified and validated on all the individuals available. Then a marker test was developed by Labogena and made available to breeders with the objective of eradicating the anomaly. This mutation is responsible for the truncation of the protein, leading to an abnormal distance between the centrioles (an organelle of the centrosome, implicated in cell division and microtubule organization). This phentoype does not alterate division but is associated with errors in cell migration. In Man, several mutations of genes coding for centriolar proteins have been identified in microcephalic primordial dwarfism or Seckel syndrome (bird-headed dwarfism). The identification of a new mutation in this gene in cattle may be useful to the human genetics community. It may also help us gain knowledge on the physiopathological mechanisms linking the mutation to the appearance of the phenotypes using murine models that are currently being developed by our laboratory.