The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice

Nat Genet. 2001 Jul;28(3):232-40. doi: 10.1038/90067.


In mice and humans, the locus encoding the gene for small nuclear ribonucleoprotein N (SNRPN/Snrpn), as well as other loci in the region are subject to genomic imprinting. The SNRPN promoter is embedded in a maternally methylated CpG island, is expressed only from the paternal chromosome and lies within an imprinting center that is required for switching to and/or maintenance of the paternal epigenotype. We show here that a 0.9-kb deletion of exon 1 of mouse Snrpn did not disrupt imprinting or elicit any obvious phenotype, although it did allow the detection of previously unknown upstream exons. In contrast, a larger, overlapping 4.8-kb deletion caused a partial or mosaic imprinting defect and perinatal lethality when paternally inherited.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Angelman Syndrome / genetics*
  • Animals
  • Autoantigens / genetics*
  • Base Sequence
  • Chimera
  • CpG Islands
  • Disease Models, Animal
  • Exons
  • Female
  • Genomic Imprinting*
  • Genotype
  • Male
  • Mice
  • Mice, Mutant Strains
  • Molecular Sequence Data
  • Pedigree
  • Phenotype
  • Prader-Willi Syndrome / genetics*
  • Promoter Regions, Genetic*
  • Ribonucleoproteins, Small Nuclear / genetics*
  • snRNP Core Proteins


  • Autoantigens
  • Ribonucleoproteins, Small Nuclear
  • SNRPN protein, human
  • snRNP Core Proteins

Associated data

  • GENBANK/AC026878
  • GENBANK/AC046145
  • GENBANK/AF063659
  • GENBANK/AF101042
  • GENBANK/AF332500
  • GENBANK/AF332501
  • GENBANK/AF332579