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Gene Review

Snurf  -  SNRPN upstream reading frame

Mus musculus

Synonyms: 2410045I01Rik, SNRPN upstream reading frame protein, Snrpn
 
 
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Disease relevance of Snurf

  • Indeed, based on the co-localization of SNURF and SNRPN within the imprinting control region critical to Prader-Willi syndrome, evolutionary arguments would suggest that this genetic locus is a prime candidate for mutations producing the failure-to-thrive phenotype of neonates with this syndrome and of corresponding mouse models [1].
  • Size fractionation of murine embryonal carcinoma F9 cell proteins shows that the majority of endogenous SNURF resides in salt-resistant > or =500-kDa complexes, suggesting that SNURF functions as a RING component in a multiprotein complex [2].
 

High impact information on Snurf

  • Genomic imprinting of the PWS/AS domain is regulated through a bipartite cis-acting imprinting center (PWS-IC/AS-IC) within and upstream of the SNRPN promoter [3].
  • We recovered these two genes from gene trap mutagenesis selecting for altered expression of an Snrpn-EGFP fusion gene strategy [3].
  • We demonstrate that the LNCAT and Snurf-Snrpn transcripts are independent although they share common exons [4].
  • Transcriptional coregulator SNURF (RNF4) possesses ubiquitin E3 ligase activity [2].
  • Mutation of conserved cysteine residues within the RING finger motif of SNURF abolishes the ubiquitination in vitro and in intact cells [2].
 

Biological context of Snurf

  • The fusion gene was maternally silenced, as is Snurf-Snrpn, and produced a tan abdomen only when inherited paternally in otherwise-black mice [5].
  • Influence of in vitro manipulation on the stability of methylation patterns in the Snurf/Snrpn-imprinting region in mouse embryonic stem cells [6].

References

  1. Genetic abnormalities in Prader-Willi syndrome and lessons from mouse models. Nicholls, R.D., Ohta, T., Gray, T.A. Acta paediatrica (Oslo, Norway : 1992). Supplement. (1999) [Pubmed]
  2. Transcriptional coregulator SNURF (RNF4) possesses ubiquitin E3 ligase activity. Häkli, M., Lorick, K.L., Weissman, A.M., Jänne, O.A., Palvimo, J.J. FEBS Lett. (2004) [Pubmed]
  3. Deficiency of Rbbp1/Arid4a and Rbbp1l1/Arid4b alters epigenetic modifications and suppresses an imprinting defect in the PWS/AS domain. Wu, M.Y., Tsai, T.F., Beaudet, A.L. Genes Dev. (2006) [Pubmed]
  4. Dynamic developmental regulation of the large non-coding RNA associated with the mouse 7C imprinted chromosomal region. Le Meur, E., Watrin, F., Landers, M., Sturny, R., Lalande, M., Muscatelli, F. Dev. Biol. (2005) [Pubmed]
  5. Evidence for translational regulation of the imprinted Snurf-Snrpn locus in mice. Tsai, T.F., Chen, K.S., Weber, J.S., Justice, M.J., Beaudet, A.L. Hum. Mol. Genet. (2002) [Pubmed]
  6. Influence of in vitro manipulation on the stability of methylation patterns in the Snurf/Snrpn-imprinting region in mouse embryonic stem cells. Schumacher, A., Doerfler, W. Nucleic Acids Res. (2004) [Pubmed]
 
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