Mosaicism of Solid Gold Supports the Causality of a Noncoding A-to-G Transition in the Determinism of the Callipyge Phenotype

Genetics. 2003 Jan;163(1):453-6.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Animals
  • Base Sequence
  • Molecular Sequence Data
  • Mosaicism / genetics*
  • Muscular Diseases / genetics*
  • Point Mutation*
  • Sheep / abnormalities
  • Sheep / genetics*

Associated data

  • GENBANK/AF354168