The callipyge locus: evidence for the trans interaction of reciprocally imprinted genes.
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.
Georges
Michel
M
Department of Genetics, Faculty of Veterinary Medicine, University of Liège (B43), 20 Bd de Colonster, 4000-Liège, Belgium. michel.georges@ulg.ac.be
Charlier
Carole
C
Cockett
Noelle
N
D000818:Animals; D005799:Genes, Dominant; D018392:Genomic Imprinting; D006023:Glycoproteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D006984:Hypertrophy; D018482:Muscle, Skeletal / Q000473:pathology*; D009135:Muscular Diseases / Q000235:genetics / Q000662:veterinary*; D011506:Proteins / Q000235:genetics* / Q000378:metabolism; D062085:RNA, Long Noncoding; D012756:Sheep; D012757:Sheep Diseases / Q000235:genetics*
D006023:Glycoproteins; C498907:MEG3 non-coding RNA, human; D011506:Proteins; D062085:RNA, Long Noncoding