title: A mutation in the MATP gene causes the cream coat colour in the horse.
abstract: In horses, basic colours such as bay or chestnut may be partially diluted to buckskin and palomino, or extremely diluted to cream, a nearly white colour with pink skin and blue eyes. This dilution is expected to be controlled by one gene and we used both candidate gene and positional cloning strategies to identify the "cream mutation". A horse panel including reference colours was established and typed for different markers within or in the neighbourhood of two candidate genes. Our data suggest that the causal mutation, a G to A transition, is localised in exon 2 of the MATP gene leading to an aspartic acid to asparagine substitution in the encoded protein. This conserved mutation was also described in mice and humans, but not in medaka.
authors.affiliation: Laboratoire de génétique biochimique et de cytogénétique, Département de génétique animale, Institut national de la recherche agronomique, Centre de Recherche de Jouy, 78352 Jouy-en-Josas Cedex, France. mariat@diamant.jouy.inra.fr
authors.forename: Denis
authors.initials: D
authors.lastname: Mariat
authors.forename: Sead
authors.initials: S
authors.lastname: Taourit
authors.forename: Gérard
authors.initials: G
authors.lastname: Guérin
mesh_terms: D000818:Animals; D002874:Chromosome Mapping; D022202:Chromosomes, Artificial, Bacterial; D017931:DNA Primers / Q000235:genetics; D006200:Hair Color / Q000235:genetics*; D006736:Horses / Q000235:genetics*; D015810:Linkage Disequilibrium; D018895:Microsatellite Repeats / Q000235:genetics; D009154:Mutation / Q000235:genetics; D011506:Proteins / Q000235:genetics*; D012880:Skin Pigmentation / Q000235:genetics*
chemical_list: D017931:DNA Primers; D011506:Proteins