Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2003 Jan;163(1):453-6.
doi: 10.1093/genetics/163.1.453.

Mosaicism of Solid Gold supports the causality of a noncoding A-to-G transition in the determinism of the callipyge phenotype

Maria Smit  1 , Karin Segers, Laura Garcia Carrascosa, Tracy Shay, Francesca Baraldi, Gabor Gyapay, Gary Snowder, Michel Georges, Noelle Cockett, Carole Charlier
Affiliations

Mosaicism of Solid Gold supports the causality of a noncoding A-to-G transition in the determinism of the callipyge phenotype

Maria Smit et al. Genetics. 2003 Jan.

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.

PubMed Disclaimer

References

    1. Nat Genet. 2000 Aug;25(4):375-6 - PubMed
    1. Mamm Genome. 2000 Oct;11(10):871-6 - PubMed
    1. Mamm Genome. 2001 Feb;12(2):141-9 - PubMed
    1. Science. 1996 Jul 12;273(5272):236-8 - PubMed
    1. Genome Res. 2002 Feb;12(2):333-8 - PubMed

Publication types

Associated data