Gene Symbol: D7Ertd715e
Description: DNA segment, Chr 7, ERATO Doi 715, expressed
Alias: AU018661
Species: mouse

Top Publications

  1. Skryabin B, Gubar L, Seeger B, Pfeiffer J, Handel S, Robeck T, et al. Deletion of the MBII-85 snoRNA gene cluster in mice results in postnatal growth retardation. PLoS Genet. 2007;3:e235 pubmed publisher
    ..This is the first example in a multicellular organism of genetic deletion of a C/D box snoRNA gene resulting in a pronounced phenotype. ..
  2. Chamberlain S, Brannan C. The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a. Genomics. 2001;73:316-22 pubmed
  3. Yamasaki K, Joh K, Ohta T, Masuzaki H, Ishimaru T, Mukai T, et al. Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a. Hum Mol Genet. 2003;12:837-47 pubmed
    ..Reciprocal imprinting of sense and antisense transcripts present only in neurons suggests that the neuron-specific imprinting mechanism is related to the lineage determination of neural stem cells. ..
  4. de los Santos T, Schweizer J, Rees C, Francke U. Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brain. Am J Hum Genet. 2000;67:1067-82 pubmed
    ..On a multispecies Southern blot, hybridization to an HMCR probe encoding the putative snoRNA is limited to mammals. ..
  5. Le Meur E, Watrin F, Landers M, Sturny R, Lalande M, Muscatelli F. Dynamic developmental regulation of the large non-coding RNA associated with the mouse 7C imprinted chromosomal region. Dev Biol. 2005;286:587-600 pubmed
    ..Although these last data do not completely exclude that the LNCAT variants including "Ube3a-ATS"exons could repress the paternal allele of Ube3a, they do allow us to propose an alternative and consistent model. ..
  6. Johnstone K, DuBose A, Futtner C, Elmore M, Brannan C, Resnick J. A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects. Hum Mol Genet. 2006;15:393-404 pubmed
    ..This maternal imprinting defect results in expression of maternal Ube3a-as and repression of Ube3a in cis, providing evidence that Ube3a is regulated by its antisense and creating the first reported mouse model for AS imprinting defects...
  7. Ding F, Li H, Zhang S, Solomon N, Camper S, Cohen P, et al. SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice. PLoS ONE. 2008;3:e1709 pubmed publisher
    ..Prolonged mealtime and increased circulating ghrelin indicate a defect in meal termination mechanism. Snord116del mice, the first snoRNA deletion animal model, reveal a novel role for a non-coding RNA in growth and feeding regulation...
  8. Meng L, Person R, Beaudet A. Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a. Hum Mol Genet. 2012;21:3001-12 pubmed publisher
    ..These results suggest that the repression of human UBE3A-ATS may activate the expression of UBE3A from the paternal chromosome, providing a potential therapeutic strategy for patients with Angelman syndrome. ..
  9. Numata K, Kohama C, Abe K, Kiyosawa H. Highly parallel SNP genotyping reveals high-resolution landscape of mono-allelic Ube3a expression associated with locus-wide antisense transcription. Nucleic Acids Res. 2011;39:2649-57 pubmed publisher
    ..The present study highlights the importance of locus-wide competition between sense and antisense transcripts. ..

More Information


  1. Ding F, Prints Y, Dhar M, Johnson D, Garnacho Montero C, Nicholls R, et al. Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models. Mamm Genome. 2005;16:424-31 pubmed
    ..Taking together all available data, we conclude that the lack of Pwcr1/MBII-85 snoRNA expression is the most likely cause for the neonatal lethality in PWS model mice...
  2. Landers M, Bancescu D, Le Meur E, Rougeulle C, Glatt Deeley H, Brannan C, et al. Regulation of the large (approximately 1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn. Nucleic Acids Res. 2004;32:3480-92 pubmed
  3. Makedonski K, Abuhatzira L, Kaufman Y, Razin A, Shemer R. MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression. Hum Mol Genet. 2005;14:1049-58 pubmed
    ..These changes in histone modifications result in loss of imprinting of the UBE3A antisense gene in the brain, increase in UBE3A antisense RNA level and, consequently reduction in UBE3A production. ..
  4. Doe C, Relkovic D, Garfield A, Dalley J, Theobald D, Humby T, et al. Loss of the imprinted snoRNA mbii-52 leads to increased 5htr2c pre-RNA editing and altered 5HT2CR-mediated behaviour. Hum Mol Genet. 2009;18:2140-8 pubmed publisher
  5. Vitali P, Royo H, Marty V, Bortolin Cavaillé M, Cavaille J. Long nuclear-retained non-coding RNAs and allele-specific higher-order chromatin organization at imprinted snoRNA gene arrays. J Cell Sci. 2010;123:70-83 pubmed publisher
    ..Our findings have repercussions for understanding the spatial organization of gene expression and the intra-nuclear fate of non-coding RNAs in the context of nuclear architecture. ..
  6. Stefan M, Simmons R, Bertera S, Trucco M, Esni F, Drain P, et al. Global deficits in development, function, and gene expression in the endocrine pancreas in a deletion mouse model of Prader-Willi syndrome. Am J Physiol Endocrinol Metab. 2011;300:E909-22 pubmed publisher
  7. Huang H, Allen J, Mabb A, KING I, Miriyala J, Taylor Blake B, et al. Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons. Nature. 2011;481:185-9 pubmed publisher
    ..Although potential off-target effects remain to be investigated, our findings suggest a therapeutic strategy for reactivating the functional but dormant allele of Ube3a in patients with Angelman syndrome. ..
  8. Lee S, Walker C, Wevrick R. Prader-Willi syndrome transcripts are expressed in phenotypically significant regions of the developing mouse brain. Gene Expr Patterns. 2003;3:599-609 pubmed
    ..The analysis of expression patterns of murine orthologues of human disease genes is valuable for identifying sites of gene expression that correlate with disease phenotype. ..
  9. Qi X, Shao M, Sun H, Shen Y, Meng D, Huo W. Long non-coding RNA SNHG14 promotes microglia activation by regulating miR-145-5p/PLA2G4A in cerebral infarction. Neuroscience. 2017;348:98-106 pubmed publisher
    ..SNHG14 increased the expression of PLA2G4A by inhibition of miR-145-5p, which resulted in the activation of MCs in cerebral infarction. ..
  10. Leung K, Vallero R, DuBose A, Resnick J, LaSalle J. Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size. Hum Mol Genet. 2009;18:4227-38 pubmed publisher
    ..These results are relevant to understanding the molecular pathogenesis of multiple human neurodevelopmental disorders, including PWS and some causes of autism. ..
  11. Meng L, Person R, Huang W, Zhu P, Costa Mattioli M, Beaudet A. Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model. PLoS Genet. 2013;9:e1004039 pubmed publisher
    ..These studies demonstrate the feasibility and utility of unsilencing the paternal copy of Ube3a via targeting Ube3a-ATS as a treatment for Angelman syndrome. ..