title: Mosaicism of Solid Gold supports the causality of a noncoding A-to-G transition in the determinism of the callipyge phenotype.
abstract: To identify the callipyge mutation, we have resequenced 184 kb spanning the DLK1-, GTL2-, PEG11-, and MEG8-imprinted domain and have identified an A-to-G transition in a highly conserved dodecamer motif between DLK1 and GTL2. This was the only difference found between the callipyge (CLPG) allele and a phylogenetically closely related wild-type allele. We report that this SNP is in perfect association with the callipyge genotype. The demonstration that Solid Gold-the alleged founder ram of the callipyge flock-is mosaic for this SNP virtually proves the causality of this SNP in the determinism of the callipyge phenotype.
authors.affiliation: Department of Animal, Dairy and Veterinary Sciences, College of Agriculture, Utah State University, Logan, Utah 84322-4700, USA.
authors.forename: Maria
authors.initials: M
authors.lastname: Smit
authors.forename: Karin
authors.initials: K
authors.lastname: Segers
authors.forename: Laura Garcia
authors.initials: LG
authors.lastname: Carrascosa
authors.forename: Tracy
authors.initials: T
authors.lastname: Shay
authors.forename: Francesca
authors.initials: F
authors.lastname: Baraldi
authors.forename: Gabor
authors.initials: G
authors.lastname: Gyapay
authors.forename: Gary
authors.initials: G
authors.lastname: Snowder
authors.forename: Michel
authors.initials: M
authors.lastname: Georges
authors.forename: Noelle
authors.initials: N
authors.lastname: Cockett
authors.forename: Carole
authors.initials: C
authors.lastname: Charlier
mesh_terms: D000818:Animals; D001483:Base Sequence; D008969:Molecular Sequence Data; D009030:Mosaicism / Q000235:genetics*; D009135:Muscular Diseases / Q000235:genetics*; D017354:Point Mutation; D012756:Sheep / Q000002:abnormalities / Q000235:genetics*