The callipyge locus: evidence for the trans interaction of reciprocally imprinted genes

Trends Genet. 2003 May;19(5):248-52. doi: 10.1016/S0168-9525(03)00082-9.


The callipyge phenotype in sheep is an inherited muscular hypertrophy that affects only heterozygous individuals who receive the CLPG mutation from their father. The CLPG mutation is a single nucleotide substitution in what is probably a long-range control element (LRCE) within the DLK1-GTL2 imprinted domain. Recent results suggest that the unique mode of inheritance of callipyge, referred to as polar overdominance, results from the combination of the cis-effect of the CLPG mutation on the expression levels of genes in the DLK1-GTL2 imprinted domain, and the trans interaction between the products of reciprocally imprinted genes.

Publication types

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

MeSH terms

  • Animals
  • Genes, Dominant
  • Genomic Imprinting*
  • Glycoproteins / genetics*
  • Glycoproteins / metabolism
  • Humans
  • Hypertrophy
  • Muscle, Skeletal / pathology*
  • Muscular Diseases / genetics
  • Muscular Diseases / veterinary*
  • Proteins / genetics*
  • Proteins / metabolism
  • RNA, Long Noncoding
  • Sheep
  • Sheep Diseases / genetics*


  • Glycoproteins
  • MEG3 non-coding RNA, human
  • Proteins
  • RNA, Long Noncoding