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

Nucleic Acids Res. 2005 Aug 22;33(15):4740-53. doi: 10.1093/nar/gki786. Print 2005.

Abstract

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • 5' Flanking Region
  • Angelman Syndrome / genetics
  • Autoantigens
  • Base Sequence
  • Binding Sites
  • DNA Footprinting
  • Deoxyribonuclease I / metabolism
  • Enhancer Elements, Genetic
  • Genomic Imprinting*
  • Histones / metabolism
  • Humans
  • Introns
  • Molecular Sequence Data
  • Nuclear Proteins / genetics*
  • Prader-Willi Syndrome / genetics
  • Promoter Regions, Genetic
  • RNA Polymerase II / metabolism
  • Response Elements*
  • Ribonucleoproteins, Small Nuclear / genetics*
  • Transcription Factors / metabolism*
  • snRNP Core Proteins

Substances

  • Autoantigens
  • Histones
  • Nuclear Proteins
  • Ribonucleoproteins, Small Nuclear
  • SNRPN protein, human
  • SNURF protein, human
  • Transcription Factors
  • snRNP Core Proteins
  • RNA Polymerase II
  • Deoxyribonuclease I