Angelman syndrome, a genomic imprinting disorder of the brain

Journal of Neuroscience

Volumn 30, Issue 30, 2010, Pages 9958-9963

  Chamberlain, Stormy J ^a   Lalande, Marc ^a  

^a UNIVERSITY OF CONNECTICUT SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN UBE 3 A ATS; UNCLASSIFIED DRUG; UNTRANSLATED RNA;

BRAIN DISEASE; DNA METHYLATION; GENE IDENTIFICATION; GENE SILENCING; GENOME IMPRINTING; GENOMICS; HAPPY PUPPET SYNDROME; HUMAN; NONHUMAN; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; REVIEW; UBIQUITINATION;

ANGELMAN SYNDROME; ANIMALS; BRAIN; CHROMOSOMES, HUMAN, PAIR 15; DISEASE MODELS, ANIMAL; GENOMIC IMPRINTING; HUMANS; UBIQUITIN-PROTEIN LIGASES;

EID: 77955406842     PISSN: 02706474     EISSN: 15292401     Source Type: Journal    
DOI: 10.1523/JNEUROSCI.1728-10.2010     Document Type: Review

References (58)

1. Albrecht U, Sutcliffe JS, Cattanach BM, Beechey CV, Armstrong D, Eichele G, Beaudet AL (1997) Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Nat Genet 17:75-78.
2. Angelman H (1965) "Puppet Children." A report of three cases. Dev Med Child Neurol 7:681-688.
3. Battaglia A (2005) The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder. Brain Dev 27:365-369.
4. Bielinska B, Blaydes SM, Buiting K, Yang T, Krajewska-Walasek M, Horsthemke B, Brannan CI (2000) De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch. Nat Genet 25:74-78.
5. Bower BD, Jeavons PM (1967) The "happy puppet" syndrome. Arch Dis Child 42:298-302.
6. Buiting K, Gross S, Lich C, Gillessen-Kaesbach G, el-Maarri O, Horsthemke B (2003) Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. Am J Hum Genet 72:571-577.
7. Butler MG, Palmer CG (1983) Parental origin of chromosome 15 deletion in Prader-Willi syndrome. Lancet 1:1285-1286.
8. Chamberlain SJ, Brannan CI (2001) The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a. Genomics 73:316-322.
9. Chamberlain SJ, Li XJ, Lalande M (2008) Induced pluripotent stem (iPS) cells as in vitro models of human neurogenetic disorders. Neurogenetics 9:227-235.
10. Cheron G, Servais L, Wagstaff J, Dan B (2005) Fast cerebellar oscillation associated with ataxia in a mouse model of Angelman syndrome. Neuroscience 130:631-637. (Pubitemid 39601436)
11. Clayton-Smith J, Laan L (2003) Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet 40:87-95.
12. Colas D, Wagstaff J, Fort P, Salvert D, Sarda N (2005) Sleep disturbances in Ube3a maternal-deficient mice modeling Angelman syndrome. Neurobiol Dis 20:471-478.
13. Cook EH Jr, Lindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C, Lord C, Courchesne E (1997) Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet 60:928-934.
14. Dan B (2009) Angelman syndrome: current understanding and research prospects. Epilepsia 50:2331-2339.
15. Dindot SV, Antalffy BA, Bhattacharjee MB, Beaudet AL (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.
16. Dittrich B, Buiting K, Korn B, Rickard S, Buxton J, Saitoh S, Nicholls RD, Poustka A, Winterpacht A, Zabel B, Horsthemke B (1996) Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat Genet 14:163-170.
17. El-Maarri O, Buiting K, Peery EG, Kroisel PM, Balaban B, Wagner K, Urman B, Heyd J, Lich C, Brannan CI, Walter J, Horsthemke B (2001) Maternal methylation imprints on human chromosome 15 are established during or after fertilization. Nat Genet 27: 341-344.
18. Greer PL, Hanayama R, Bloodgood BL, Mardinly AR, Lipton DM, Flavell SW, Kim TK, Griffith EC, Waldon Z, Maehr R, Ploegh HL, Chowdhury S, Worley PF, Steen J, Greenberg ME (2010) The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc. Cell 140:704-716.
19. Heck DH, Zhao Y, Roy S, LeDoux MS, Reiter LT (2008) Analysis of cerebellar function in Ube3a-deficient mice reveals novel genotype-specific behaviors. Hum Mol Genet 17:2181-2189.
20. Huibregtse JM, Scheffner M, Howley PM (1991) A cellular protein mediates association of p53 with the E6 oncoprotein of human papillomavirus types 16 or 18. EMBO J 10:4129-4135.
21. Huibregtse JM, Scheffner M, Howley PM (1993) Localization of the E6-AP regions that direct human papillomavirus E6 binding, association with p53, and ubiquitination of associated proteins. Mol Cell Biol 13:4918-4927.
22. Jiang YH, Armstrong D, Albrecht U, Atkins CM, Noebels JL, Eichele G, Sweatt JD, Beaudet AL (1998) Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron 21:799-811.
23. Kishino T, Lalande M, Wagstaff J (1997) UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 15:70-73. (Pubitemid 27014952)
24. Knoll JH, Nicholls RD, Magenis RE, Graham JM Jr, Lalande M, Latt SA (1989) Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet 32:285-290.
25. Lalande M, Calciano MA (2007) Molecular epigenetics of Angelman syndrome. Cell Mol Life Sci 64:947-960.
26. Landers M, Calciano MA, Colosi D, Glatt-Deeley H, Wagstaff J, Lalande M (2005) Maternal disruption of Ube3a leads to increased expression of Ube3a-ATS in trans. Nucleic Acids Res 33:3976-3984.
27. Lossie AC, Whitney MM, Amidon D, Dong HJ, Chen P, Theriaque D, Hutson A, Nicholls RD, Zori RT, Williams CA, Driscoll DJ (2001) Distinct phenotypes distinguish the molecular classes of Angelman syndrome. J Med Genet 38:834-845.
28. Lu Y, Wang F, Li Y, Ferris J, Lee JA, Gao FB (2009) The Drosophila homologue of the Angelman syndrome ubiquitin ligase regulates the formation of terminal dendritic branches. Hum Mol Genet 18:454-462.
29. Magenis RE, Brown MG, Lacy DA, Budden S, LaFranchi S (1987) Is Angelman syndrome an alternate result of del(15)(q11q13)? Am J Med Genet 28:829-838.
30. Mardirossian S, Rampon C, Salvert D, Fort P, Sarda N (2009) Impaired hippocampal plasticity and altered neurogenesis in adult Ube3a maternal deficient mouse model for Angelman syndrome. Exp Neurol 220:341-348.
31. Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, Rommens JM, Beaudet AL (1997) De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet 15:74-77.
32. Miura K, Kishino T, Li E, Webber H, Dikkes P, Holmes GL, Wagstaff J (2002) Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice. Neurobiol Dis 9:149-159.
33. Nakatani J, Tamada K, Hatanaka F, Ise S, Ohta H, Inoue K, Tomonaga S, Watanabe Y, Chung YJ, Banerjee R, Iwamoto K, Kato T, Okazawa M, Yamauchi K, Tanda K, Takao K, Miyakawa T, Bradley A, Takumi T (2009) Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism. Cell 137:1235-1246.
34. Navarro P, Pichard S, Ciaudo C, Avner P, Rougeulle C (2005) Tsix transcription across the Xist gene alters chromatin conformation without affecting Xist transcription: implications for X-chromosome inactivation. Genes Dev 19:1474-1484. (Pubitemid 41003014)
35. Nicholls RD, Knoll JH, Butler MG, Karam S, LalandeM (1989) Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature 342:281-285.
36. Reik W, Walter J (2001) Genomic imprinting: parental influence on the genome. Nat Rev Genet 2:21-32.
37. Reiter LT, Seagroves TN, Bowers M, Bier E (2006) Expression of the Rho-GEF Pbl/ECT2 is regulated by the UBE3A E3 ubiquitin ligase. Hum Mol Genet 15:2825-2835.
38. Rose J, Jin SX, Craig AM (2009) Heterosynaptic molecular dynamics: locally induced propagating synaptic accumulation of CaM kinase II. Neuron 61:351-358.
39. Rougeulle C, Heard E (2002) Antisense RNA in imprinting: spreading silence through air. Trends Genet 18:434-437.
40. Rougeulle C, Glatt H, Lalande M (1997) The Angelman syndrome candidate gene, UBE3A/ E6-AP, is imprinted in brain. Nat Genet 17:14-15.
41. Rougeulle C, Cardoso C, Fontés M, Colleaux L, Lalande M (1998) An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript. Nat Genet 19: 15-16.
42. Runte M, Hüttenhofer A, Gross S, Kiefmann M, Horsthemke B, Buiting K (2001) The ICSNURF-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.
43. Sato M, StrykerMP (2010) Genomic imprinting of experience-dependent cortical plasticity by the ubiquitin ligase gene Ube3a. Proc Natl Acad Sci U S A 107:5611-5616.
44. Scheffner M, Huibregtse JM, Vierstra RD, Howley PM (1993) The HPV-16 E6 and E6-AP complex functions as a ubiquitin-protein ligase in the ubiquitination of p53. Cell 75:495-505. (Pubitemid 23335075)
45. Shepherd JD, Rumbaugh G, Wu J, Chowdhury S, Plath N, Kuhl D, Huganir RL, Worley PF (2006) Arc/Arg3.1 mediates homeostatic synaptic scaling of AMPA receptors. Neuron 52:475-484.
46. Shibata S, Lee JT (2004) Tsix transcription- versus RNA-based mechanisms in Xist repression and epigenetic choice. Curr Biol 14:1747-1754.
47. Su H, Fan W, Coskun PE, Vesa J, Gold JA, Jiang YH, Potluri P, Procaccio V, Acab A, Weiss JH, Wallace DC, Kimonis VE (2009) Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome. Neurosci Lett. Advance online publication. Retrieved July 7, 2010. doi:10.1016/j.neulett.2009.06.079.
48. Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, Ledbetter DH, Beaudet AL (1994) Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat Genet 8:52-58. (Pubitemid 24274060)
49. Van Buggenhout G, Fryns JP (2009) Angelman syndrome (AS, MIM 105830). Eur J Hum Genet 17:1367-1373.
50. van Woerden GM, Harris KD, Hojjati MR, Gustin RM,Qiu S, de Avila Freire R, JiangYH,Elgersma Y, Weeber EJ (2007) Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alphaCaMKII inhibitory phosphorylation. Nat Neurosci 10:280-282.
51. Veenstra-Vanderweele J, Christian SL, Cook EH Jr (2004) Autism as a paradigmatic complex genetic disorder. Annu Rev Genomics Hum Genet 5:379-405.
52. Vu TH, Hoffman AR (1997) Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. Nat Genet 17:12-13.
53. Weeber EJ, Jiang YH, Elgersma Y, Varga AW, Carrasquillo Y, Brown SE, Christian JM, Mirnikjoo B, Silva A, Beaudet AL, Sweatt JD (2003) Derangements of hippocampal calcium/calmodulin-dependent protein kinase II in a mouse model for Angelman mental retardation syndrome. J Neurosci 23:2634-2644.
54. Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA, Wagstaff J (2006) Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A 140:413-418.
55. Wu Y, Bolduc FV, Bell K, Tully T, Fang Y, Sehgal A, Fischer JA (2008) A Drosophila model for Angelman syndrome. Proc Natl Acad Sci U S A 105:12399-12404.
56. Yamasaki K, Joh K, Ohta T, Masuzaki H, Ishimaru T, Mukai T, Niikawa N, Ogawa M, Wagstaff J, Kishino T (2003) Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a. Hum Mol Genet 12:837-847. (Pubitemid 36504026)
57. Yashiro K, Riday TT, Condon KH, Roberts AC, Bernardo DR, Prakash R, Weinberg RJ, Ehlers MD, Philpot BD (2009) Ube3a is required for experience-dependent maturation of the neocortex. Nat Neurosci 12:777-783.
58. Zeschnigk M, Schmitz B, Dittrich B, Buiting K, Horsthemke B, Doerfler W (1997) Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method. Hum Mol Genet 6:387-395.