title: Two SNPs in the SILV gene are associated with silver coat colour in ponies.
abstract: In horses, a pigment dilution acting only on black eumelanin is the so-called silver coat colour, which is characterized by a chocolate-to-reddish body with a white mane and tail. Using information from other species, we focused our study on SILV as a possible candidate gene for the equine silver phenotype. A 1559-bp genomic fragment was sequenced in 24 horses, and five SNPs were detected. Two of the five SNPs (DQ665301:g.697A>T and DQ665301:g.1457C>T) were genotyped in 112 horses representing eight colour phenotypes. Both mutations were completely associated with the silver phenotype: all eumelanin-producing horses (blacks and bays) with atypical white mane and tail were carriers of the [g.697T; g.1457T] haplotype. We identified this haplotype as well as the silver phenotype only in Shetland ponies and Icelandic horses. Horses without eumelanin (chestnuts) were carriers of the [g.697T; g.1457T] haplotype, but they showed no phenotypic effect. The white or flaxen mane often detected in chestnuts is presumably based on another SILV mutation or on polymorphisms in other genes.
authors.affiliation: Breeding Biology and Molecular Genetics, Institute for Animal Sciences, Humboldt-Universität zu Berlin, D-10115 Berlin, Germany. monika.reissmann@rz.hu-berlin.de
authors.forename: M
authors.initials: M
authors.lastname: Reissmann
authors.forename: J
authors.initials: J
authors.lastname: Bierwolf
authors.forename: G A
authors.initials: GA
authors.lastname: Brockmann
mesh_terms: D000818:Animals; D005091:Exons; D006200:Hair Color / Q000235:genetics*; D006239:Haplotypes; D006736:Horses / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: D008565:Membrane Proteins