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Nucleic Acids Research 2005 33(15):4740-4753; doi:10.1093/nar/gki786
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Published online 22 August 2005

© The Author 2005. Published by Oxford University Press. All rights reserved
The online version of this article has been published under an open access model. Users are entitled to use, reproduce, disseminate, or display the open access version of this article for non-commercial purposes provided that: the original authorship is properly and fully attributed; the Journal and Oxford University Press are attributed as the original place of publication with the correct citation details given; if an article is subsequently reproduced or disseminated not in its entirety but only in part or as a derivative work this must be clearly indicated. For commercial re-use, please contact journals.permissions{at}oupjournals.org

Article

Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus

Sara Rodriguez-Jato1, Robert D. Nicholls4, Daniel J. Driscoll2,3 and Thomas P. Yang1,2,3,*

1Department of Biochemistry and Molecular Biology, University of Florida College of Medicine Gainesville, FL 32610, USA 2Department of Pediatrics, University of Florida College of Medicine Gainesville, FL 32610, USA 3Center for Mammalian Genetics, University of Florida College of Medicine Gainesville, FL 32610, USA 4Center for Neurobiology and Behavior, Department of Psychiatry, University of Pennsylvania Philadelphia, PA 19104, USA

*To whom correspondence should be addressed. Tel: +1 352 392 6472; Fax: +1 352 392 2953; Email: tpyang{at}ufl.edu

Received April 21, 2005. Revised July 27, 2005. Accepted August 5, 2005.

The imprinted SNRPN locus is a complex transcriptional unit that encodes the SNURF and SmN polypeptides as well as multiple non-coding RNAs. SNRPN is located within the Prader-Willi and Angelman syndrome (PWS/AS) region that contains multiple imprinted genes, which are coordinately regulated by a bipartite imprinting center (IC). The SNRPN 5' region co-localizes with the PWS-IC and contains two DNase I hypersensitive sites, DHS1 at the SNRPN promoter, and DHS2 within intron 1, exclusively on the paternally inherited chromosome. We have examined DHS1 and DHS2 to identify cis- and trans-acting regulatory elements within the endogenous SNRPN 5' region. Analysis of DHS1 by in vivo footprinting and chromatin immunoprecipitation identified allele-specific interaction with multiple regulatory proteins, including NRF-1, which regulates genes involved in mitochondrial and metabolic functions. DHS2 acted as an enhancer of the SNRPN promoter and contained a highly conserved region that showed allele-specific interaction with unphosphorylated RNA polymerase II, YY1, Sp1 and NRF-1, further suggesting a key role for NRF-1 in regulation of the SNRPN locus. We propose that one or more of the regulatory elements identified in this study may also contribute to PWS-IC function.


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