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The callipyge mutation enhances bidirectional long-range DLK1-GTL2 intergenic transcription in cis.


ABSTRACT: 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, including hypomethylation, acquisition of novel DNase-I hypersentivite sites, and, most strikingly, strongly enhanced bidirectional, long-range IG transcription. The callipyge phenotype thus emerges as a unique model to study the functional significance of IG transcription, which recently has proven to be a widespread, yet elusive, feature of the mammalian genome.

SUBMITTER: Takeda H 

PROVIDER: S-EPMC1472439 | biostudies-literature | 2006 May

REPOSITORIES: biostudies-literature

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The callipyge mutation enhances bidirectional long-range DLK1-GTL2 intergenic transcription in cis.

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]

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