Mosaicism of Solid Gold supports the causality of a non-coding A to G transition in the determinism of the callipyge phenotype

in Genetics (2003), 163

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 ... [more ▼]

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. [less ▲]