title: A missense mutation in the agouti signaling protein gene (ASIP) is associated with the no light points coat phenotype in donkeys.
abstract: BACKGROUND
  Seven donkey breeds are recognized by the French studbook and are characterized by a black, bay or grey coat colour including light cream-to-white points (LP). Occasionally, Normand bay donkeys give birth to dark foals that lack LP and display the no light points (NLP) pattern. This pattern is more frequent and officially recognized in American miniature donkeys. The LP (or pangare) phenotype resembles that of the light bellied agouti pattern in mouse, while the NLP pattern resembles that of the mammalian recessive black phenotype; both phenotypes are associated with the agouti signaling protein gene (ASIP).
  
  
  RESULTS
  We used a panel of 127 donkeys to identify a recessive missense c.349 T > C variant in ASIP that was shown to be in complete association with the NLP phenotype. This variant results in a cysteine to arginine substitution at position 117 in the ASIP protein. This cysteine is highly-conserved among vertebrate ASIP proteins and was previously shown by mutagenesis experiments to lie within a functional site. Altogether, our results strongly support that the identified mutation is causative of the NLP phenotype.
  
  
  CONCLUSIONS
  Thus, we propose to name the c.[349 T > C] allele in donkeys, the a(nlp) allele, which enlarges the panel of coat colour alleles in donkeys and ASIP recessive loss-of-function alleles in animals.
authors.affiliation: Inra, Unité de Génétique Fonctionnelle et Médicale, Ecole nationale vétérinaire d'Alfort, Maisons-Alfort, 94700, France. m.abitbol@vet-alfort.fr.|Inserm, U955 IMRB, Equipe 10, Université Paris-Est, Créteil, 94000, France. m.abitbol@vet-alfort.fr.
authors.forename: Marie
authors.initials: M
authors.lastname: Abitbol
authors.affiliation: Inra, Unité de Génétique Fonctionnelle et Médicale, Ecole nationale vétérinaire d'Alfort, Maisons-Alfort, 94700, France. romainlegrand.vet@gmail.com.|Inserm, U955 IMRB, Equipe 10, Université Paris-Est, Créteil, 94000, France. romainlegrand.vet@gmail.com.
authors.forename: Romain
authors.initials: R
authors.lastname: Legrand
authors.affiliation: Inra, Unité de Génétique Fonctionnelle et Médicale, Ecole nationale vétérinaire d'Alfort, Maisons-Alfort, 94700, France. ltiret@vet-alfort.fr.|Inserm, U955 IMRB, Equipe 10, Université Paris-Est, Créteil, 94000, France. ltiret@vet-alfort.fr.
authors.forename: Laurent
authors.initials: L
authors.lastname: Tiret
mesh_terms: D054366:Agouti Signaling Protein / Q000235:genetics*; D000818:Animals; D018397:Equidae / Q000235:genetics*; D005838:Genotype; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010641:Phenotype
chemical_list: D054366:Agouti Signaling Protein