The callipyge mutation enhances the expression of coregulated imprinted genes in cis without affecting their imprinting status

C Charlier; K Segers; L Karim; T Shay; G Gyapay; N Cockett; M Georges

doi:10.1038/86856

The callipyge mutation enhances the expression of coregulated imprinted genes in cis without affecting their imprinting status

Nat Genet. 2001 Apr;27(4):367-9. doi: 10.1038/86856.

Authors

C Charlier¹, K Segers, L Karim, T Shay, G Gyapay, N Cockett, M Georges

Affiliation

¹ Department of Genetics, Faculty of Veterinary Medicine, University of Liège (B43), Liège, Belgium.

PMID: 11279514
DOI: 10.1038/86856

Abstract

The callipyge (CLPG) phenotype (from kappa(alpha)lambda(iota), "beautiful," and pi(iota)gamma(epsilon), "buttocks") described in sheep is an inherited muscular hypertrophy that is subject to an unusual parent-of-origin effect referred to as polar overdominance: only heterozygous individuals having inherited the CLPG mutation from their sire exhibit the muscular hypertrophy. The callipyge (clpg) locus was mapped to a chromosome segment of approximately 400 kb (refs. 2-4), which was shown to contain four genes (DLK1, GTL2, PEG11 and MEG8) that are preferentially expressed in skeletal muscle and subject to parental imprinting in this tissue. Here we describe the effect of the CLPG mutation on the expression of these four genes, and demonstrate that callipyge individuals have a unique expression profile that may account for the observed polar overdominance.

Publication types

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

MeSH terms

Animals
Base Sequence
DNA Primers
Gene Expression Regulation / genetics*
Genomic Imprinting*
Mutation*
Reverse Transcriptase Polymerase Chain Reaction
Sheep

Substances

DNA Primers