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.
Full Text
The Full Text of this article is available as a PDF (249.7 KB).
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Charlier C., Segers K., Wagenaar D., Karim L., Berghmans S., Jaillon O., Shay T., Weissenbach J., Cockett N., Gyapay G. Human-ovine comparative sequencing of a 250-kb imprinted domain encompassing the callipyge (clpg) locus and identification of six imprinted transcripts: DLK1, DAT, GTL2, PEG11, antiPEG11, and MEG8. Genome Res. 2001 May;11(5):850–862. doi: 10.1101/gr.172701. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Cockett N. E., Jackson S. P., Shay T. L., Farnir F., Berghmans S., Snowder G. D., Nielsen D. M., Georges M. Polar overdominance at the ovine callipyge locus. Science. 1996 Jul 12;273(5272):236–238. doi: 10.1126/science.273.5272.236. [DOI] [PubMed] [Google Scholar]
- Fahrenkrug S. C., Freking B. A., Rexroad C. E., 3rd, Leymaster K. A., Kappes S. M., Smith T. P. Comparative mapping of the ovine clpg locus. Mamm Genome. 2000 Oct;11(10):871–876. doi: 10.1007/s003350010150. [DOI] [PubMed] [Google Scholar]
- Freking Brad A., Murphy Susan K., Wylie Andrew A., Rhodes Simon J., Keele John W., Leymaster Kreg A., Jirtle Randy L., Smith Timothy P. L. Identification of the single base change causing the callipyge muscle hypertrophy phenotype, the only known example of polar overdominance in mammals. Genome Res. 2002 Oct;12(10):1496–1506. doi: 10.1101/gr.571002. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Kashuk Carl, SenGupta Sanghamitra, Eichler Evan, Chakravarti Aravinda. ViewGene: a graphical tool for polymorphism visualization and characterization. Genome Res. 2002 Feb;12(2):333–338. doi: 10.1101/gr.211202. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Shay T. L., Berghmans S., Segers K., Meyers S., Beever J. E., Womack J. E., Georges M., Charlier C., Cockett N. E. Fine-mapping and construction of a bovine contig spanning the ovine callipyge locus. Mamm Genome. 2001 Feb;12(2):141–149. doi: 10.1007/s003350010248. [DOI] [PubMed] [Google Scholar]
- Uejima H., Lee M. P., Cui H., Feinberg A. P. Hot-stop PCR: a simple and general assay for linear quantitation of allele ratios. Nat Genet. 2000 Aug;25(4):375–376. doi: 10.1038/78040. [DOI] [PubMed] [Google Scholar]