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Novel Insights into the Bovine Polled Phenotype and Horn Ontogenesis in Bovidae

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posted on 22.05.2013, 01:42 by Aurélie Allais-Bonnet, Cécile Grohs, Ivica Medugorac, Stefan Krebs, Anis Djari, Alexander Graf, Sébastien Fritz, Doris Seichter, Aurélia Baur, Ingolf Russ, Stéphan Bouet, Sophie Rothammer, Per Wahlberg, Diane Esquerré, Chris Hoze, Mekki Boussaha, Bernard Weiss, Dominique Thépot, Marie-Noëlle Fouilloux, Marie-Noëlle Rossignol, Este van Marle-Köster, Gunnfríður Elín Hreiðarsdóttir, Sarah Barbey, Dominique Dozias, Emilie Cobo, Patrick Reversé, Olivier Catros, Jean-Luc Marchand, Pascal Soulas, Pierre Roy, Brigitte Marquant-Leguienne, Daniel Le Bourhis, Laetitia Clément, Laura Salas-Cortes, Eric Venot, Maëlle Pannetier, Florence Phocas, Christophe Klopp, Dominique Rocha, Michel Fouchet, Laurent Journaux, Carine Bernard-Capel, Claire Ponsart, André Eggen, Helmut Blum, Yves Gallard, Didier Boichard, Eric Pailhoux, Aurélien Capitan

Despite massive research efforts, the molecular etiology of bovine polledness and the developmental pathways involved in horn ontogenesis are still poorly understood. In a recent article, we provided evidence for the existence of at least two different alleles at the Polled locus and identified candidate mutations for each of them. None of these mutations was located in known coding or regulatory regions, thus adding to the complexity of understanding the molecular basis of polledness. We confirm previous results here and exhaustively identify the causative mutation for the Celtic allele (PC) and four candidate mutations for the Friesian allele (PF). We describe a previously unreported eyelash-and-eyelid phenotype associated with regular polledness, and present unique histological and gene expression data on bovine horn bud differentiation in fetuses affected by three different horn defect syndromes, as well as in wild-type controls. We propose the ectopic expression of a lincRNA in PC/p horn buds as a probable cause of horn bud agenesis. In addition, we provide evidence for an involvement of OLIG2, FOXL2 and RXFP2 in horn bud differentiation, and draw a first link between bovine, ovine and caprine Polled loci. Our results represent a first and important step in understanding the genetic pathways and key process involved in horn bud differentiation in Bovidae.