Ontology highlight
ABSTRACT:
SUBMITTER: Takeda H
PROVIDER: S-EPMC1472439 | biostudies-literature | 2006 May
REPOSITORIES: biostudies-literature
Takeda Haruko H Caiment Florian F Smit Maria M Hiard Samuel S Tordoir Xavier X Cockett Noelle N Georges Michel M Charlier Carole C
Proceedings of the National Academy of Sciences of the United States of America 20060511 21
The callipyge mutation (CLPG) is an A to G transition that affects a muscle-specific long-range control element located in the middle of the 90-kb DLK1-GTL2 intergenic (IG) region. It causes ectopic expression of a 327-kb cluster of imprinted genes in skeletal muscle, resulting in the callipyge muscular hypertrophy and its non-Mendelian inheritance pattern known as polar overdominance. We herein demonstrate that the CLPG mutation alters the muscular epigenotype of the DLK1-GTL2 IG region in cis, ...[more]