[en] 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.
Research center :
Systmod
Disciplines :
Genetics & genetic processes
Author, co-author :
Takeda, Haruko ; Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale
Caiment, Florian ; Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale
Smit, Maria; Utah State University > College of Agriculture > Animal, Dairy and Veterinary Sciences
Hiard, Samuel ; Université de Liège - ULiège > Dép. d'électric., électron. et informat. (Inst.Montefiore) > Systèmes et modélisation
Tordoir, Xavier ; Université de Liège - ULiège > Dép. d'électric., électron. et informat. (Inst.Montefiore) > Systèmes et modélisation
Cockett, Noelle; Utah State University > College of Agriculture > Animal, Dairy and Veterinary Sciences
Georges, Michel ✱; Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale
Charlier, Carole ✱; Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale
✱ These authors have contributed equally to this work.
Language :
English
Title :
The callipyge mutation enhances bidirectional long-range DLK1-GTL2 intergenic transcription in cis
Publication date :
23 May 2006
Journal title :
Proceedings of the National Academy of Sciences of the United States of America
ISSN :
0027-8424
eISSN :
1091-6490
Publisher :
National Academy of Sciences, Washington, United States - District of Columbia
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