[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/Unit :
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
scite shows how a scientific paper has been cited by providing the context of the citation, a classification describing whether it supports, mentions, or contrasts the cited claim, and a label indicating in which section the citation was made.
Bibliography
Cockett, N. E., Jackson, S. P., Shay, T. L., Farnir, F., Berghmans, S., Snowder, G. D., Nielsen, D. M. & Georges, M. (1996) Science 273, 236-238.
Freking, B. A., Murphy, S. K., Wylie, A. A., Rhodes, S. J., Keele, J. W., Leymaster, K. A., Jirtle, R. L. & Smith, T. P. (2002) Genome Res. 12, 1496-1506.
Smit, M., Segers, K., Carrascosa, L. G., Shay, T., Baraldi, F., Gyapay, G., Snowder, G., Georges, M., Cockett, N. & Charlier, C. (2003) Genetics 163, 453-456.
Carninci, P., Kasukawa, T., Katayama, S., Gough, J., Frith, M. C., Maeda, N., Oyama, R., Ravasi, T., Lenhard, B., Wells, C., et al. (2005) Science 309, 1559-1563.
Cheng, J., Kapranov, P., Drenkow, J., Dike, S., Brubaker, S., Patel, S., Long, J., Stern, D., Tammana, H., Helt, G., et al. (2005) Science 308, 1149-1154.
Charlier, C., Segers, K., Karim, L., Shay, T., Gyapay, G., Cockett, N. & Georges, M. (2001) Nat. Genet. 27, 367-369.
Murphy, S. K., Freking, B. A., Smith, T. P., Leymaster, K., Nolan, C. M., Wylie, A. A., Evans, H. K. & Jirtle, R. L. (2005) Mamm. Genome 16, 171-183.
Charlier, C., Segers, K., Wagenaar, D., Karim, L., Berghmans, S., Jaillon, O., Shay, T., Weissenbach, J., Cockett, N., Gyapay, G., et al. (2001) Genome Res. 11, 850-862.
Seitz, H., Royo, H., Bortolin, M. L., Lin, S. P., Ferguson-Smith, A. C. & Cavaille, J. (2004) Genome Res. 14, 1741-1748.
Davis, E., Jensen, C. H., Schroder, H. D., Farnir, F., Shay-Hadfield, T., Kliem, A., Cockett, N., Georges, M. & Charlier, C. (2004) Curr. Biol. 14, 1858-1862.
Georges, M., Charlier, C. & Cockett, N. (2003) Trends Genet. 19, 248-252.
Davis, E., Caiment, F., Tordoir, X., Cavaille, J., Ferguson-Smith, A., Cockett, N., Georges, M. & Charlier, C. (2005) Curr. Biol. 15, 743-749.
Li, O., Peterson, K. R., Fang, X. & Stamatoyannopoulos, G. (2002) Blood 100, 3077-3086.
Stalder, J., Larsen, A., Engel, J. D., Dolan, M., Groudine, M. & Weintraub, H. (1980) Cell 20, 451-460.
Lin, S. P., Youngson, N., Takada, S., Seitz, H., Reik, W., Paulsen, M., Cavaille, J. & Ferguson-Smith, A. C. (2003) Nat. Genet. 35, 97-102.
Murphy, S. K., Nolan, C. M., Huang, Z., Kucera, K. S., Freking, B. A., Smith, T. P., Leymaster, K. A., Weidman, J. R. & Jirtle, R. L. (2006) Genome Res. 16, 340-346
Gribnau, J., Diderich, K., Pruzina, S., Calzolari, R. & Fraser, P. (2000) Mol. Cell. 5, 377-386.
Masternak, K., Peyraud, N., Krawczyk, M., Barras, E. & Reith, W. (2003) Nat. Immunol. 4, 132-137.
Rogan, D. F., Cousins, D. J., Santangelo, S., Ioannuu, P. A., Antoniou, M., Lee, T. H. & Staynov, D. Z. (2004) Proc. Natl. Acad. Sci. USA 101, 2446-2451.
Dean, A. (2006) Trends Genet. 22, 38-45.
Georges, M., Charlier, C., Smit, M., Davis, E., Shay, T., Tordoir, X., Takeda, H., Caiment, F. & Cockett, N. (2004) Cold Spring Harb. Symp. Quant. Biol. 69, 477-483.
Henikoff, S. & Ahmad, K. (2005) Annu. Rev. Cell Dev. Biol. 21, 133-153.
Schmitt, S., Prestel, M. & Paro, R. (2005) Genes Dev. 19, 697-708.
Haussecker, D. & Proudfoot, N. J. (2005) Mol. Cell. Biol. 25, 9724-9733.
Smit, M. A., Tordoir, X., Gyapay, G., Cockett, N. E., Georges, M. & Charlier, C. (2005) Mamm. Genome 16, 801-814.
Gregory, R. I., Khosla, S. & Feil, R. (2001) Methods Mol. Biol. 181, 269-284.
Gregory, R. I. & Feil, R. (1999) Nucleic Acids Res. 27, e32.
Similar publications
Sorry the service is unavailable at the moment. Please try again later.
This website uses cookies to improve user experience. Read more
Save & Close
Accept all
Decline all
Show detailsHide details
Cookie declaration
About cookies
Strictly necessary
Performance
Strictly necessary cookies allow core website functionality such as user login and account management. The website cannot be used properly without strictly necessary cookies.
This cookie is used by Cookie-Script.com service to remember visitor cookie consent preferences. It is necessary for Cookie-Script.com cookie banner to work properly.
Performance cookies are used to see how visitors use the website, eg. analytics cookies. Those cookies cannot be used to directly identify a certain visitor.
Used to store the attribution information, the referrer initially used to visit the website
Cookies are small text files that are placed on your computer by websites that you visit. Websites use cookies to help users navigate efficiently and perform certain functions. Cookies that are required for the website to operate properly are allowed to be set without your permission. All other cookies need to be approved before they can be set in the browser.
You can change your consent to cookie usage at any time on our Privacy Policy page.