Novel insights into the bovine polled phenotype and horn ontogenesis in Bovidae

PLoS One. 2013 May 22;8(5):e63512. doi: 10.1371/journal.pone.0063512. Print 2013.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Animals
  • Basic Helix-Loop-Helix Transcription Factors / genetics
  • Cattle / genetics
  • Cattle / growth & development*
  • Chromosome Mapping / methods
  • Forkhead Transcription Factors / genetics
  • Gene Expression Regulation, Developmental / genetics
  • Genetic Variation / genetics
  • Genotype
  • Goats / genetics
  • Goats / growth & development
  • Horns / growth & development*
  • Mutation / genetics
  • Phenotype
  • Receptors, G-Protein-Coupled / genetics
  • Sheep / genetics
  • Sheep / growth & development


  • Basic Helix-Loop-Helix Transcription Factors
  • Forkhead Transcription Factors
  • Receptors, G-Protein-Coupled

Grants and funding

This project was funded by Apis Gène “Hornout” and Institut National de la Recherche Agronomique-DGA “Interpolled” and “Hornaseq” grants. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.