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See detailToward molecular understanding of polar overdominance at the ovine callipyge locus
Georges, Michel ULg; Charlier, Carole ULg; Smit, M. et al

in Stillman, B.; Stewart, D. (Eds.) "Epigenetics” Cold Spring Harbor Symposium on Quantitative Biology (2005)

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See detailMosaicism of Solid Gold supports the causality of a non-coding A to G transition in the determinism of the callipyge phenotype
Smit, M.; Segers, K.; Shay, T. et al

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 ▲]

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See detailThe callipyge (CLPG) mutation enhances the expression of the coregulated DLK1, GTL2, PEG11 and MEG8 genes in cis without affecting their imprinting status
Charlier, Carole ULg; Segers, K.; Karim, Latifa ULg et al

in Nature Genetics (2001), 27

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 ... [more ▼]

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. [less ▲]

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See detailBreakpoint mapping positions the callipyge gene within a 450-kilobase chromosome segment containing the DLK1 and GTL2 genes.
Berghmans, S.; SEGERS, Karin ULg; Shay, T. et al

in Mammalian Genome : Official Journal of the International Mammalian Genome Society (2001), 12(2), 183-5

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See detailConstruction and characterization of an ovine BAC contig spanning the callipyge locus.
SEGERS, Karin ULg; Vaiman, D.; Berghmans, S. et al

in Animal Genetics (2000), 31(6), 352-9

We describe the construction of an ovine BAC contig spanning a 4.6 centimorgan (cM) chromosome segment known to contain the callipyge (CLPG) locus. The contig comprises 21 ovine BAC clones jointly ... [more ▼]

We describe the construction of an ovine BAC contig spanning a 4.6 centimorgan (cM) chromosome segment known to contain the callipyge (CLPG) locus. The contig comprises 21 ovine BAC clones jointly covering approximately 900 kilobases (Kb). Two gaps in the BAC contig, spanning 10 and 7.5 Kb, respectively, were bridged by long range PCR. The corresponding chromosome region was shown to be characterized by an unusually low Kb to cM ratio (164 Kb/cM) and a high density of Not1 sites (1:126 Kb) possibly reflecting a high gene density in the corresponding chromosome region. Equivalent amplification of 64 sequence tagged sites spanning the corresponding region from homozygous +/+ and CLPG/CLPG individuals disproves the hypothesis of a major deletion causing the CLPG mutation. [less ▲]

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