| Literature DB >> 12586730 |
Maria Smit1, Karin Segers, Laura Garcia Carrascosa, Tracy Shay, Francesca Baraldi, Gabor Gyapay, Gary Snowder, Michel Georges, Noelle Cockett, Carole Charlier.
Abstract
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.Entities:
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Year: 2003 PMID: 12586730 PMCID: PMC1462405
Source DB: PubMed Journal: Genetics ISSN: 0016-6731 Impact factor: 4.562