title: Novel insights into the bovine polled phenotype and horn ontogenesis in Bovidae.
abstract: 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.
authors.affiliation: Institut National de la Recherche Agronomique, UMR 1198 Biologie du Développement et Reproduction, Jouy-en-Josas, France.
authors.forename: Aurélie
authors.initials: A
authors.lastname: Allais-Bonnet
authors.forename: Cécile
authors.initials: C
authors.lastname: Grohs
authors.forename: Ivica
authors.initials: I
authors.lastname: Medugorac
authors.forename: Stefan
authors.initials: S
authors.lastname: Krebs
authors.forename: Anis
authors.initials: A
authors.lastname: Djari
authors.forename: Alexander
authors.initials: A
authors.lastname: Graf
authors.forename: Sébastien
authors.initials: S
authors.lastname: Fritz
authors.forename: Doris
authors.initials: D
authors.lastname: Seichter
authors.forename: Aurélia
authors.initials: A
authors.lastname: Baur
authors.forename: Ingolf
authors.initials: I
authors.lastname: Russ
authors.forename: Stéphan
authors.initials: S
authors.lastname: Bouet
authors.forename: Sophie
authors.initials: S
authors.lastname: Rothammer
authors.forename: Per
authors.initials: P
authors.lastname: Wahlberg
authors.forename: Diane
authors.initials: D
authors.lastname: Esquerré
authors.forename: Chris
authors.initials: C
authors.lastname: Hoze
authors.forename: Mekki
authors.initials: M
authors.lastname: Boussaha
authors.forename: Bernard
authors.initials: B
authors.lastname: Weiss
authors.forename: Dominique
authors.initials: D
authors.lastname: Thépot
authors.forename: Marie-Noëlle
authors.initials: MN
authors.lastname: Fouilloux
authors.forename: Marie-Noëlle
authors.initials: MN
authors.lastname: Rossignol
authors.forename: Este
authors.initials: E
authors.lastname: van Marle-Köster
authors.forename: Gunnfríður Elín
authors.initials: GE
authors.lastname: Hreiðarsdóttir
authors.forename: Sarah
authors.initials: S
authors.lastname: Barbey
authors.forename: Dominique
authors.initials: D
authors.lastname: Dozias
authors.forename: Emilie
authors.initials: E
authors.lastname: Cobo
authors.forename: Patrick
authors.initials: P
authors.lastname: Reversé
authors.forename: Olivier
authors.initials: O
authors.lastname: Catros
authors.forename: Jean-Luc
authors.initials: JL
authors.lastname: Marchand
authors.forename: Pascal
authors.initials: P
authors.lastname: Soulas
authors.forename: Pierre
authors.initials: P
authors.lastname: Roy
authors.forename: Brigitte
authors.initials: B
authors.lastname: Marquant-Leguienne
authors.forename: Daniel
authors.initials: D
authors.lastname: Le Bourhis
authors.forename: Laetitia
authors.initials: L
authors.lastname: Clément
authors.forename: Laura
authors.initials: L
authors.lastname: Salas-Cortes
authors.forename: Eric
authors.initials: E
authors.lastname: Venot
authors.forename: Maëlle
authors.initials: M
authors.lastname: Pannetier
authors.forename: Florence
authors.initials: F
authors.lastname: Phocas
authors.forename: Christophe
authors.initials: C
authors.lastname: Klopp
authors.forename: Dominique
authors.initials: D
authors.lastname: Rocha
authors.forename: Michel
authors.initials: M
authors.lastname: Fouchet
authors.forename: Laurent
authors.initials: L
authors.lastname: Journaux
authors.forename: Carine
authors.initials: C
authors.lastname: Bernard-Capel
authors.forename: Claire
authors.initials: C
authors.lastname: Ponsart
authors.forename: André
authors.initials: A
authors.lastname: Eggen
authors.forename: Helmut
authors.initials: H
authors.lastname: Blum
authors.forename: Yves
authors.initials: Y
authors.lastname: Gallard
authors.forename: Didier
authors.initials: D
authors.lastname: Boichard
authors.forename: Eric
authors.initials: E
authors.lastname: Pailhoux
authors.forename: Aurélien
authors.initials: A
authors.lastname: Capitan
mesh_terms: D000483:Alleles; D000818:Animals; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics; D002417:Cattle / Q000235:genetics / Q000254:growth & development*; D002874:Chromosome Mapping / Q000379:methods; D051858:Forkhead Transcription Factors / Q000235:genetics; D018507:Gene Expression Regulation, Developmental / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D006041:Goats / Q000235:genetics / Q000254:growth & development; D006733:Horns / Q000254:growth & development*; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D043562:Receptors, G-Protein-Coupled / Q000235:genetics; D012756:Sheep / Q000235:genetics / Q000254:growth & development
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D051858:Forkhead Transcription Factors; D043562:Receptors, G-Protein-Coupled