Human Molecular Genetics, 2003, Vol. 12, No. 15 1927-1939
DOI: 10.1093/hmg/ddg194
© 2003 Oxford University Press
Insulator and silencer sequences in the imprinted region of human chromosome 11p15.5
1Department of Molecular and Medical Genetics, University of Toronto, Toronto, Canada M5S 1A8, 2Department of Cell and Structural Biology, University of Illinois, Urbana, IL 61801, USA and 3Department of Paediatrics, University of Toronto and Department of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Canada M5G 1X8
Received February 20, 2003; Accepted May 23, 2003
The imprinting of the genes on human chromosome 11p15.5 is thought to be controlled by two imprinting control regions located in two differentially methylated CpG islands upstream of the H19 gene (H19 DMR) and in intron 10 of the KCNQ1 gene (KvDMR). We have examined sequences in the human 11p15.5 genomic imprinted region for the presence of insulators and silencers using a position- and enhancer-dependent stable transfection assay. We have confirmed the existence of insulators in H19 DMR and discovered two novel insulators in the IGF2 gene. We have also found two novel silencer sequences; one is located in KvDMR, a region that is thought to contain the promoter for the KCNQ1OT1 transcript, and another is in the CDKN1C gene. We have demonstrated binding of CTCF protein in vitro to all the insulator and silencer sequences that we have detected. We discuss the differences in the regulation of imprinting controlled by the two imprinting control regions in chromosome 11p.
* To whom correspondence should be addressed. Tel: +1 4169786061; Fax: +1 4169786885; Email: p.sadowski{at}utoronto.ca
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  M. J. MacPherson, L. G. Beatty, W. Zhou, M. Du, and P. D. Sadowski The CTCF Insulator Protein Is Posttranslationally Modified by SUMO Mol. Cell. Biol., February 1, 2009; 29(3): 714 - 725. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Q. Li, L. Tang, P. C. Roberts, J. M. Kraniak, A. L. Fridman, O. I. Kulaeva, O. S. Tehrani, and M. A. Tainsky Interferon Regulatory Factors IRF5 and IRF7 Inhibit Growth and Induce Senescence in Immortal Li-Fraumeni Fibroblasts Mol. Cancer Res., May 1, 2008; 6(5): 770 - 784. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. V. Fitzpatrick, E. M. Pugacheva, J.-Y. Shin, Z. Abdullaev, Y. Yang, K. Khatod, V. V. Lobanenkov, and M. J. Higgins Allele-Specific Binding of CTCF to the Multipartite Imprinting Control Region KvDMR1 Mol. Cell. Biol., April 1, 2007; 27(7): 2636 - 2647. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Sparago, S. Russo, F. Cerrato, S. Ferraiuolo, P. Castorina, A. Selicorni, C. Schwienbacher, M. Negrini, G. B. Ferrero, M. C. Silengo, et al. Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour Hum. Mol. Genet., February 1, 2007; 16(3): 254 - 264. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. L. Hancock, K. W. Brown, K. Moorwood, H. Moon, C. Holmgren, S. H. Mardikar, A. R. Dallosso, E. Klenova, D. Loukinov, R. Ohlsson, et al. A CTCF-binding silencer regulates the imprinted genes AWT1 and WT1-AS and exhibits sequential epigenetic defects during Wilms' tumourigenesis Hum. Mol. Genet., February 1, 2007; 16(3): 343 - 354. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. L. Amelio, P. K. McAnany, and D. C. Bloom A Chromatin Insulator-Like Element in the Herpes Simplex Virus Type 1 Latency-Associated Transcript Region Binds CCCTC-Binding Factor and Displays Enhancer-Blocking and Silencing Activities J. Virol., March 1, 2006; 80(5): 2358 - 2368. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. L. Thorvaldsen, A. M. Fedoriw, S. Nguyen, and M. S. Bartolomei Developmental Profile of H19 Differentially Methylated Domain (DMD) Deletion Alleles Reveals Multiple Roles of the DMD in Regulating Allelic Expression and DNA Methylation at the Imprinted H19/Igf2 Locus Mol. Cell. Biol., February 15, 2006; 26(4): 1245 - 1258. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 N Diaz-Meyer, Y Yang, S N Sait, E R Maher, and M J Higgins Alternative mechanisms associated with silencing of CDKN1C in Beckwith-Wiedemann syndrome J. Med. Genet., August 1, 2005; 42(8): 648 - 655. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T. Arima, T. Kamikihara, T. Hayashida, K. Kato, T. Inoue, Y. Shirayoshi, M. Oshimura, H. Soejima, T. Mukai, and N. Wake ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome Nucleic Acids Res., May 11, 2005; 33(8): 2650 - 2660. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Paulsen, T. Khare, C. Burgard, S. Tierling, and J. Walter Evolution of the Beckwith-Wiedemann syndrome region in vertebrates Genome Res., January 1, 2005; 15(1): 146 - 153. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
N. Thakur, V. K. Tiwari, H. Thomassin, R. R. Pandey, M. Kanduri, A. Gondor, T. Grange, R. Ohlsson, and C. Kanduri An Antisense RNA Regulates the Bidirectional Silencing Property of the Kcnq1 Imprinting Control Region Mol. Cell. Biol., September 15, 2004; 24(18): 7855 - 7862. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. R. Weidman, S. K. Murphy, C. M. Nolan, F. S. Dietrich, and R. L. Jirtle Phylogenetic Footprint Analysis of IGF2 in Extant Mammals Genome Res., September 1, 2004; 14(9): 1726 - 1732. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Murrell, S. Heeson, W. N. Cooper, E. Douglas, S. Apostolidou, G. E. Moore, E. R. Maher, and W. Reik An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype Hum. Mol. Genet., January 15, 2004; 13(2): 247 - 255. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
N Diaz-Meyer, C D Day, K Khatod, E R Maher, W Cooper, W Reik, C Junien, G Graham, E Algar, V M Der Kaloustian, et al. Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome J. Med. Genet., November 1, 2003; 40(11): 797 - 801. [Abstract] [Full Text] [PDF]
|
|