Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a

Human Molecular Genetics

Volumn 21, Issue 13, 2012, Pages 3001-3012

  Meng, Linyan ^a   Person, Richard E ^a   Beaudet, Arthur L ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY RNA; RNA POLYMERASE II;

ALLELE; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL CULTURE; CELL DIFFERENTIATION; CELL NUCLEUS; CHROMOSOME; CONTROLLED STUDY; EMBRYONIC STEM CELL; FEMALE; GENE; GENE DELETION; GENE EXPRESSION; GENE LOCUS; GENE REPRESSION; GENETIC TRANSCRIPTION; HAPPY PUPPET SYNDROME; HUMAN; IN VIVO STUDY; MALE; MICROARRAY ANALYSIS; MOUSE; NEWBORN; NONHUMAN; NUCLEOTIDE SEQUENCE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN LOCALIZATION; TRANSCRIPTION INITIATION SITE; TRANSCRIPTION TERMINATION; UBE3A GENE;

ANGELMAN SYNDROME; ANIMALS; CELLS, CULTURED; EMBRYONIC STEM CELLS; FEMALE; GENOMIC IMPRINTING; HUMANS; MALE; MICE; MICE, INBRED C57BL; NEURONS; POLYADENYLATION; PROMOTER REGIONS, GENETIC; RNA POLYMERASE II; RNA, ANTISENSE; SNRNP CORE PROTEINS; TRANSCRIPTION, GENETIC; UBIQUITIN-PROTEIN LIGASES;

MUS;

EID: 84863505435     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds130     Document Type: Article

References (48)

1. Edwards, C.A. and Ferguson-Smith, A.C. (2007) Mechanisms regulating imprinted genes in clusters. Curr. Opin. Cell Biol., 19, 281-289.
2. Horsthemke, B. (2010) Mechanisms of imprint dysregulation. Am. J. Med. Genet. C Semin. Med. Genet., 154C, 321-328.
3. Buiting, K. (2010) Prader-Willi syndrome and Angelman syndrome. Am. J. Med. Genet. C Semin. Med. Genet., 154C, 365-376.
4. Horsthemke, B. and Wagstaff, J. (2008) Mechanisms of imprinting of the Prader-Willi/Angelman region. Am. J. Med. Genet. A, 146A, 2041-2052.
5. Kantor, B., Makedonski, K., Green-Finberg, Y., Shemer, R. and Razin, A. (2004) Control elements within the PWS/AS imprinting box and their function in the imprinting process. Hum. Mol. Genet., 13, 751-762.
6. Chamberlain, S.J. and Lalande, M. (2010) Angelman syndrome, a genomic imprinting disorder of the brain. J. Neurosci., 30, 9958-9963.
7. Van Buggenhout, G. and Fryns, J.P. (2009) Angelman syndrome (AS, MIM 105830). Eur. J. Hum. Genet., 17, 1367-1373.
8. Williams, C.A., Driscoll, D.J. and Dagli, A.I. (2010) Clinical and genetic aspects of Angelman syndrome. Genet. Med., 12, 385-395.
9. Rougeulle, C., Glatt, H. and Lalande, M. (1997) The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. Nat. Genet., 17, 14-15.
10. Vu, T.H. and Hoffman, A.R. (1997) Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. Nat. Genet., 17, 12-13.
11. Yamasaki, K., Joh, K., Ohta, T., Masuzaki, H., Ishimaru, T., Mukai, T., Niikawa, N., Ogawa, M., Wagstaff, J. and Kishino, T. (2003) Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a. Hum. Mol. Genet., 12, 837-847.
12. Dindot, S.V., Antalffy, B.A., Bhattacharjee, M.B. and Beaudet, A.L. (2008) The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. Hum. Mol. Genet., 17, 111-118.
13. Lossie, A.C., Whitney, M.M., Amidon, D., Dong, H.J., Chen, P., Theriaque, D., Hutson, A., Nicholls, R.D., Zori, R.T., Williams, C.A. et al. (2001) Distinct phenotypes distinguish the molecular classes of Angelman syndrome. J. Med. Genet., 38, 834-845.
14. Makedonski, K., Abuhatzira, L., Kaufman, Y., Razin, A. and Shemer, R. (2005) MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression. Hum. Mol. Genet., 14, 1049-1058.
15. Jiang, Y.H., Sahoo, T., Michaelis, R.C., Bercovich, D., Bressler, J., Kashork, C.D., Liu, Q., Shaffer, L.G., Schroer, R.J., Stockton, D.W. et al. (2004) A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A. Am. J. Med. Genet. A, 131, 1-10.
16. Latos, P.A. and Barlow, D.P. (2009) Regulation of imprinted expression by macro non-coding RNAs. RNA Biol., 6, 100-106.
17. Mohammad, F., Mondal, T. and Kanduri, C. (2009) Epigenetics of imprinted long noncoding RNAs. Epigenetics, 4, 277-286.
18. Pauler, F.M., Koerner, M.V. and Barlow, D.P. (2007) Silencing by imprinted noncoding RNAs: is transcription the answer? Trends Genet, 23, 284-292.
19. Sleutels, F., Zwart, R. and Barlow, D.P. (2002) The non-coding Air RNA is required for silencing autosomal imprinted genes. Nature, 415, 810-813.
20. Mancini-Dinardo, D., Steele, S.J., Levorse, J.M., Ingram, R.S. and Tilghman, S.M. (2006) Elongation of the Kcnq1ot1 transcript is required for genomic imprinting of neighboring genes. Genes Dev., 20, 1268-1282.
21. Seidl, C.I., Stricker, S.H. and Barlow, D.P. (2006) The imprinted Air ncRNA is an atypical RNAPII transcript that evades splicing and escapes nuclear export. EMBO J., 25, 3565-3575.
22. Pandey, R.R., Mondal, T., Mohammad, F., Enroth, S., Redrup, L., Komorowski, J., Nagano, T., Mancini-Dinardo, D. and Kanduri, C. (2008) Kcnq1ot1 antisense noncoding RNA mediates lineage-specific transcriptional silencing through chromatin-level regulation. Mol. Cell, 32, 232-246.
23. Rougeulle, C., Cardoso, C., Fontes, M., Colleaux, L. and Lalande, M. (1998) An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript. Nat. Genet., 19, 15-16.
24. Runte, M., Huttenhofer, A., Gross, S., Kiefmann, M., Horsthemke, B. and Buiting, K. (2001) The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A. Hum. Mol. Genet., 10, 2687-2700.
25. Landers, M., Bancescu, D.L., Le Meur, E., Rougeulle, C., Glatt-Deeley, H., Brannan, C., Muscatelli, F. and Lalande, M. (2004) Regulation of the large (approximately 1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn. Nucleic Acids Res., 32, 3480-3492.
26. Le Meur, E., Watrin, F., Landers, M., Sturny, R., Lalande, M. and Muscatelli, F. (2005) Dynamic developmental regulation of the large non-coding RNA associated with the mouse 7C imprinted chromosomal region. Dev. Biol., 286, 587-600.
27. Chamberlain, S.J. and Brannan, C.I. (2001) The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a. Genomics, 73, 316-322.
28. Johnstone, K.A., DuBose, A.J., Futtner, C.R., Elmore, M.D., Brannan, C.I. and Resnick, J.L. (2006) A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects. Hum. Mol. Genet., 15, 393-404.
29. Lalande, M. and Calciano, M.A. (2007) Molecular epigenetics of Angelman syndrome. Cell. Mol. Life Sci., 64, 947-960.
30. Landers, M., Calciano, M.A., Colosi, D., Glatt-Deeley, H., Wagstaff, J. and Lalande, M. (2005) Maternal disruption of Ube3a leads to increased expression of Ube3a-ATS in trans. Nucleic Acids Res., 33, 3976-3984.
31. Bressler, J., Tsai, T.F., Wu, M.Y., Tsai, S.F., Ramirez, M.A., Armstrong, D. and Beaudet, A.L. (2001) The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice. Nat. Genet., 28, 232-240.
32. Wakeland, E., Morel, L., Achey, K., Yui, M. and Longmate, J. (1997) Speed congenics: a classic technique in the fast lane (relatively speaking). Immunol. Today, 18, 472-477.
33. Tsai, T.F., Jiang, Y.H., Bressler, J., Armstrong, D. and Beaudet, A.L. (1999) Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome. Hum. Mol. Genet., 8, 1357-1364.
34. Bibel, M., Richter, J., Schrenk, K., Tucker, K.L., Staiger, V., Korte, M., Goetz, M. and Barde, Y.A. (2004) Differentiation of mouse embryonic stem cells into a defined neuronal lineage. Nat. Neurosci., 7, 1003-1009.
35. Numata, K., Kohama, C., Abe, K. and Kiyosawa, H. (2011) Highly parallel SNP genotyping reveals high-resolution landscape of mono-allelic Ube3a expression associated with locus-wide antisense transcription. Nucleic Acids Res., 39, 2649-2657.
36. Shibata, S. and Lee, J.T. (2004) Tsix transcription- versus RNA-based mechanisms in Xist repression and epigenetic choice. Curr. Biol., 14, 1747-1754.
37. Jiang, Y., Lev-Lehman, E., Bressler, J., Tsai, T.F. and Beaudet, A.L. (1999) Genetics of Angelman syndrome. Am. J. Hum. Genet., 65, 1-6.
38. Lyle, R., Watanabe, D., te Vruchte, D., Lerchner, W., Smrzka, O.W., Wutz, A., Schageman, J., Hahner, L., Davies, C. and Barlow, D.P. (2000) The imprinted antisense RNA at the Igf2r locus overlaps but does not imprint Mas1. Nat. Genet., 25, 19-21.
39. Santoro, F. and Barlow, D.P. (2011) Developmental control of imprinted expression by macro non-coding RNAs. Semin. Cell Dev. Biol., 22, 328- 335.
40. Herzing, L.B., Kim, S.J., Cook, E.H. Jr. and Ledbetter, D.H. (2001) The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression. Am. J. Hum. Genet., 68, 1501-1505.
41. Meguro, M., Kashiwagi, A., Mitsuya, K., Nakao, M., Kondo, I., Saitoh, S. and Oshimura, M. (2001) A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome. Nat. Genet., 28, 19-20.
42. Jiang, Y.H., Pan, Y., Zhu, L., Landa, L., Yoo, J., Spencer, C., Lorenzo, I., Brilliant, M., Noebels, J. and Beaudet, A.L. (2010) Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3. PLoS One, 5, e12278.
43. DuBose, A.J., Johnstone, K.A., Smith, E.Y., Hallett, R.A. and Resnick, J.L. (2010) Atp10a, a gene adjacent to the PWS/AS gene cluster, is not imprinted in mouse and is insensitive to the PWS-IC. Neurogenetics, 11, 145-151.
44. Huang, H.S., Allen, J.A., Mabb, A.M., King, I.F., Miriyala, J., Taylor-Blake, B., Sciaky, N., Dutton, J.W. Jr, Lee, H.M., Chen, X. et al. (2012) Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons. Nature, 481, 185-189.
45. Bernard, D., Prasanth, K.V., Tripathi, V., Colasse, S., Nakamura, T., Xuan, Z., Zhang, M.Q., Sedel, F., Jourdren, L., Coulpier, F. et al. (2010) A long nuclear-retained non-coding RNA regulates synaptogenesis by modulating gene expression. EMBO J., 29, 3082-3093.
46. Wang, G.S., Kearney, D.L., De Biasi, M., Taffet, G. and Cooper, T.A. (2007) Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy. J. Clin. Invest., 117, 2802-2811.
47. Chan, W., Costantino, N., Li, R., Lee, S.C., Su, Q., Melvin, D., Court, D.L. and Liu, P. (2007) A recombineering based approach for high-throughput conditional knockout targeting vector construction. Nucleic Acids Res., 35, e64.
48. Redrup, L., Branco, M.R., Perdeaux, E.R., Krueger, C., Lewis, A., Santos, F., Nagano, T., Cobb, B.S., Fraser, P. and Reik, W. (2009) The long noncoding RNA Kcnq1ot1 organises a lineage-specific nuclear domain for epigenetic gene silencing. Development, 136, 525-530.