Neuronal chromatin dynamics of imprinting in development and disease

Journal of Cellular Biochemistry

Volumn 112, Issue 2, 2011, Pages 365-373

  Leung, Karen N ^a,c   Chamberlain, Stormy J ^b   Lalande, Marc ^b   Lasalle, Janine M ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CONNECTICUT   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

epigenetic; imprinting; neuronal; noncoding RNA; nucleolar; snoRNA

Indexed keywords

METHYL CPG BINDING PROTEIN 2; UNTRANSLATED RNA;

ARTICLE; AUTISM; CHROMATIN; CHROMATIN STRUCTURE; CHROMOSOME 15Q; DNA METHYLATION; EPIGENETICS; EPILEPSY; GENE EXPRESSION; GENE LOCUS; GENETIC REGULATION; HAPPY PUPPET SYNDROME; HUMAN; MOLECULAR IMPRINTING; NERVE CELL; NERVE CELL CULTURE; NONHUMAN; PLURIPOTENT STEM CELL; PRADER WILLI SYNDROME; PRIORITY JOURNAL; RETT SYNDROME; SCHIZOPHRENIA;

ANIMALS; CHROMATIN; EPIGENESIS, GENETIC; GENOMIC IMPRINTING; HUMANS; MODELS, BIOLOGICAL; NEURONS; RNA, SMALL NUCLEOLAR; RNA, UNTRANSLATED;

MAMMALIA;

EID: 79251647135     PISSN: 07302312     EISSN: 10974644     Source Type: Journal    
DOI: 10.1002/jcb.22958     Document Type: Article

References (88)

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 [in process citation].
2. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY,. 1999. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23: 185-188.
3. Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Carson AR, Casallo G, Casey J, Chu SH, Cochrane L, Corsello C, Crawford EL, Crossett A, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Melhem NM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Piven J, Posey DJ, Poustka A, Poustka F,., et al. 2010. A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet.
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 [see comments] [published erratum appears in Nat Genet 2000; 25(2): 241]. Nat Genet 25:74-78.
5. Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, Nagamani S, Franco LM, Malphrus A, Bottenfield GW, Spence JE, Amato S, Rousseau JA, Moghaddam B, Skinner C, Skinner SA, Bernes S, Armstrong N, Shinawi M, Stankiewicz P, Patel A, Cheung SW, Lupski JR, Beaudet AL, Sahoo T,. 2009. Microdeletion 15q13.3: A locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet 46 (6): 382-388.
6. Bird AP, Wolffe AP,. 1999. Methylation-induced repressionâBelts, braces, and chromatin. Cell 99: 451-454.
7. Brown CJ, Hendrich BD, Rupert JL, Lafreniere RG, Xing Y, Lawrence J, Willard HF,. 1992. The human XIST gene: Analysis of a 17kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus. Cell 71: 527-542.
8. Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls RD, Horsthemke B,. 1995. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet 9: 395-400.
9. Butler JV, Whittington JE, Holland AJ, Boer H, Clarke D, Webb T,. 2002. Prevalence of, and risk factors for, physical ill-health in people with Prader-Willi syndrome: A population-based study. Dev Med Child Neurol 44: 248-255.
10. Castle JC, Armour CD, Lower M, Haynor D, Biery M, Bouzek H, Chen R, Jackson S, Johnson JM, Rohl CA, Raymond CK,. 2010. Digital genome-wide ncRNA expression, including SnoRNAs, across 11 human tissues using polyA-neutral amplification. PLoS One 5: e11779.
11. Cavaille J, Buiting K, Kiefmann M, Lalande M, Brannan CI, Horsthemke B, Bachellerie JP, Brosius J, Huttenhofer A,. 2000. Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization. Proc Natl Acad Sci USA 97: 14311-14316.
12. Chahrour M, Jung SY, Shaw C, Zhou X, Wong ST, Qin J, Zoghbi HY,. 2008. MeCP2, a key contributor to neurological disease, activates and represses transcription. Science 320: 1224-1229.
13. Chamberlain SJ, Johnstone KA, DuBose AJ, Simon TA, Bartolomei MS, Resnick JL, Brannan CI,. 2004. Evidence for genetic modifiers of postnatal lethality in PWS-IC deletion mice. Hum Mol Genet 13: 2971-2977.
14. Chamberlain SJ, Chen PF, Ng KY, Bourgois-Rocha F, Lemtiri-Chlieh F, Levine ES, Lalande M,. 2010. Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes. Proc Natl Acad Sci USA 107: 17668-17673.
15. Chaumeil J, Le Baccon P, Wutz A, Heard E,. 2006. A novel role for Xist RNA in the formation of a repressive nuclear compartment into which genes are recruited when silenced. Genes Dev 20: 2223-2237.
16. Clayton-Smith J, Laan L,. 2003. Angelman syndrome: A review of the clinical and genetic aspects. J Med Genet 40: 87-95.
17. Clemson CM, Hall LL, Byron M, McNeil J, Lawrence JB,. 2006. The X chromosome is organized into a gene-rich outer rim and an internal core containing silenced nongenic sequences. Proc Natl Acad Sci U S A 103: 7688-7693.
18. Cook PR,. 2003. Nongenic transcription, gene regulation and action at a distance. J Cell Sci 116: 4483-4491.
19. Cook EH, Jr., Scherer SW,. 2008. Copy-number variations associated with neuropsychiatric conditions. Nature 455: 919-923.
20. 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.
21. Cremer T, Cremer M, Dietzel S, Muller S, Solovei I, Fakan S,. 2006. Chromosome territoriesâA functional nuclear landscape. Curr Opin Cell Biol 18: 307-316.
22. Csankovszki G, Nagy A, Jaenisch R,. 2001. Synergism of Xist RNA, DNA methylation, and histone hypoacetylation in maintaining X chromosome inactivation. J Cell Biol 153: 773-784.
23. de Smith AJ, Purmann C, Walters RG, Ellis RJ, Holder SE, Van Haelst MM, Brady AF, Fairbrother UL, Dattani M, Keogh JM, Henning E, Yeo GS, O'Rahilly S, Froguel P, Farooqi IS, Blakemore AI,. 2009. A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. Hum Mol Genet.
24. de Napoles M, Nesterova T, Brockdorff N,. 2007. Early loss of Xist RNA expression and inactive X chromosome associated chromatin modification in developing primordial germ cells. PLoS One 2: e860.
25. Ding F, Li HH, Zhang S, Solomon NM, Camper SA, Cohen P, Francke U,. 2008. SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice. PLoS ONE 3: e1709.
26. Dinger ME, Amaral PP, Mercer TR, Pang KC, Bruce SJ, Gardiner BB, Askarian-Amiri ME, Ru K, Solda G, Simons C, Sunkin SM, Crowe ML, Grimmond SM, Perkins AC, Mattick JS,. 2008. Long noncoding RNAs in mouse embryonic stem cell pluripotency and differentiation. Genome Res 18: 1433-1445.
27. DuBose AJ, Johnstone KA, Smith EY, Hallett RA, Resnick JL,. 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.
28. Flomen RH, Collier DA, Osborne S, Munro J, Breen G, St Clair D, Makoff AJ,. 2006. Association study of CHRFAM7A copy number and 2 bp deletion polymorphisms with schizophrenia and bipolar affective disorder. Am J Med Genet B Neuropsychiatr Genet 141B: 571-575.
29. Greally JM, Gray TA, Gabriel JM, Song L, Zemel S, Nicholls RD,. 1999. Conserved characteristics of heterochromatin-forming DNA at the 15q11-q13 imprinting center [published erratum appears in Proc Natl Acad Sci U S A 2000 Apr 11; 97(8): 4410]. Proc Natl Acad Sci U S A 96:14430-14435.
30. Gregg C, Zhang J, Butler JE, Haig D, Dulac C,. 2010. Sex-specific parent-of-origin allelic expression in the mouse brain. Science 329: 682-685.
31. Gustin RM, Bichell TJ, Bubser M, Daily J, Filonova I, Mrelashvili D, Deutch AY, Colbran RJ, Weeber EJ, Haas KF,. 2010. Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome. Neurobiol Dis 39: 283-291.
32. Guttman M, Amit I, Garber M, French C, Lin MF, Feldser D, Huarte M, Zuk O, Carey BW, Cassady JP, Cabili MN, Jaenisch R, Mikkelsen TS, Jacks T, Hacohen N, Bernstein BE, Kellis M, Regev A, Rinn JL, Lander ES,. 2009. Chromatin signature reveals over a thousand highly conserved large non-coding RNAs in mammals. Nature 458: 223-227.
33. Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuss-Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan GJ, Moller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nurnberg P, Romano C, Malafosse A, Koeleman BP, Lindhout D, Stephani U, Schreiber S, Eichler EE, Sander T,. 2009. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 41: 160-162.
34. Hogart A, Patzel KA, Lasalle JM,. 2008. Gender influences monoallelic expression of ATP10A in human brain. Hum Genet 124 (3): 235-242.
35. Hogart A, Wu D, LaSalle JM, Schanen NC,. 2010. The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13. Neurobiol Dis 38: 181-191.
36. Horn PJ, Peterson CL,. 2002. Molecular biology. Chromatin higher order foldingâwrapping up transcription. Science 297: 1824-1827.
37. Jiang YH, Pan Y, Zhu L, Landa L, Yoo J, Spencer C, Lorenzo I, Brilliant M, Noebels J, Beaudet AL,. 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. (8): e12278.
38. Jirtle RL, Skinner MK,. 2007. Environmental epigenomics and disease susceptibility. Nat Rev Genet 8: 253-262.
39. Joh K, Yatsuki H, Higashimoto K, Mukai T, Soejima H,. 2009. Antisense transcription occurs at the promoter of a mouse imprinted gene, commd1, on the repressed paternal allele. J Biochem 146: 771-774.
40. Johnstone KA, Dubose AJ, Futtner CR, Elmore MD, Brannan CI, Resnick JL,. 2005. A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects. Hum Mol Genet.
41. Kashiwagi A, Meguro M, Hoshiya H, Haruta M, Ishino F, Shibahara T, Oshimura M,. 2003. Predominant maternal expression of the mouse Atp10c in hippocampus and olfactory bulb. J Hum Genet 48: 194-198.
42. Kayashima T, Ohta T, Niikawa N, Kishino T,. 2003a. On the conflicting reports of imprinting status of mouse ATP10a in the adult brain: Strain-background-dependent imprinting? J Hum Genet 48: 492-493; author reply 494.
43. Kayashima T, Yamasaki K, Joh K, Yamada T, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Mukai T, Niikawa N, Kishino T,. 2003b. Atp10a, the mouse ortholog of the human imprinted ATP10A gene, escapes genomic imprinting. Genomics 81: 644-647.
44. Khalil AM, Guttman M, Huarte M, Garber M, Raj A, Rivea Morales D, Thomas K, Presser A, Bernstein BE, van Oudenaarden A, Regev A, Lander ES, Rinn JL,. 2009. Many human large intergenic noncoding RNAs associate with chromatin-modifying complexes and affect gene expression. Proc Natl Acad Sci U S A 106: 11667-11672.
45. Kiss T, Fayet E, Jady BE, Richard P, Weber M,. 2006. Biogenesis and intranuclear trafficking of human box C/D and H/ACA RNPs. Cold Spring Harb Symp Quant Biol 71: 407-417.
46. Kohlmaier A, Savarese F, Lachner M, Martens J, Jenuwein T, Wutz A,. 2004. A chromosomal memory triggered by Xist regulates histone methylation in X inactivation. PLoS Biol 2: E171.
47. Kosak ST, Groudine M,. 2004. Gene order and dynamic domains. Science 306: 644-647.
48. Lasalle JM, Yasui DH,. 2009. Evolving role of MeCP2 in Rett syndrome and autism. Epigenomics 1: 119-130.
49. Le Meur E, Watrin F, Landers M, Sturny R, Lalande M, 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.
50. Leung KN, Vallero RO, DuBose AJ, Resnick JL, LaSalle JM,. 2009. Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size. Hum Mol Genet 18: 4227-4238.
51. Lewis A, Reik W,. 2006. How imprinting centres work. Cytogenet Genome Res 113: 81-89.
52. Maison C, Bailly D, Peters AH, Quivy JP, Roche D, Taddei A, Lachner M, Jenuwein T, Almouzni G,. 2002. Higher-order structure in pericentric heterochromatin involves a distinct pattern of histone modification and an RNA component. Nat Genet 30: 329-334.
53. Manuelidis L,. 1985. Indications of centromere movement during interphase differentiation. Ann N Y Acad Sci 450: 205-221.
54. Martou G, De Boni U,. 2000. Nuclear topology of murine, cerebellar Purkinje neurons: Changes as a function of development. Exp Cell Res 256: 131-139.
55. McKeegan KS, Debieux CM, Watkins NJ,. 2009. Evidence that the AAA+ proteins TIP48 and TIP49 bridge interactions between 15.5K and the related NOP56 and NOP58 proteins during box C/D snoRNP biogenesis. Mol Cell Biol 29: 4971-4981.
56. Morison IM, Ramsay JP, Spencer HG,. 2005. A census of mammalian imprinting. Trends Genet 21: 457-465.
57. Nagano T, Mitchell JA, Sanz LA, Pauler FM, Ferguson-Smith AC, Feil R, Fraser P,. 2008. The Air noncoding RNA epigenetically silences transcription by targeting G9a to chromatin. Science 322: 1717-1720.
58. 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.
59. Ohhata T, Hoki Y, Sasaki H, Sado T,. 2008. Crucial role of antisense transcription across the Xist promoter in Tsix-mediated Xist chromatin modification. Development 135: 227-235.
60. Perk J, Makedonski K, Lande L, Cedar H, Razin A, Shemer R,. 2002. The imprinting mechanism of the Prader-Willi/Angelman regional control center. Embo J 21: 5807-5914.
61. Pick M, Stelzer Y, Bar-Nur O, Mayshar Y, Eden A, Benvenisty N,. 2009. Clone- and gene-specific aberrations of parental imprinting in human induced pluripotent stem cells. Stem Cells 27: 2686-2690.
62. Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BH, Cochrane L, Corsello C, Crawford EL, Crossett A, Cytrynbaum C, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green A, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Pilorge M,., et al. 2010. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466: 368-372.
63. Ponjavic J, Ponting CP, Lunter G,. 2007. Functionality or transcriptional noise? Evidence for selection within long noncoding RNAs. Genome Res 17: 556-565.
64. Rodriguez-Jato S, Nicholls RD, Driscoll DJ, Yang TP,. 2005. Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus. Nucleic Acids Res 33: 4740-4753.
65. Royo H, Cavaille J,. 2008. Non-coding RNAs in imprinted gene clusters. Biol Cell 100: 149-166.
66. Rougeulle C, Glatt H, Lalande M,. 1997. The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain [letter]. Nat Genet 17: 14-15 [in process citation].
67. Redrup L, Branco MR, Perdeaux ER, Krueger C, Lewis A, Santos F, Nagano T, Cobb BS, Fraser P, Reik W,. 2009. The long noncoding RNA Kcnq1ot1 organises a lineage-specific nuclear domain for epigenetic gene silencing. Development 136: 525-530.
68. Runte M, Huttenhofer A, Gross S, Kiefmann M, Horsthemke B, 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.
69. Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL,. 2008. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet 40: 719-721.
70. Schanen NC,. 2006. Epigenetics of autism spectrum disorders. Hum Mol Genet 15 (Spec No. 2): R138-R150.
71. Skene PJ, Illingworth RS, Webb S, Kerr AR, James KD, Turner DJ, Andrews R, Bird AP,. 2010. Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state. Mol Cell 37: 457-468.
72. Sridhar P, Gan HH, Schlick T,. 2008. A computational screen for C/D box snoRNAs in the human genomic region associated with Prader-Willi and Angelman syndromes. J Biomed Sci 15: 697-705.
73. Stadtfeld M, Apostolou E, Akutsu H, Fukuda A, Follett P, Natesan S, Kono T, Shioda T, Hochedlinger K,. 2010. Aberrant silencing of imprinted genes on chromosome 12qF1 in mouse induced pluripotent stem cells. Nature 465: 175-181.
74. Stefansson H, Rujescu D, Cichon S, Pietilainen OP, Ingason A, Steinberg S, Fossdal R, Sigurdsson E, Sigmundsson T, Buizer-Voskamp JE, Hansen T, Jakobsen KD, Muglia P, Francks C, Matthews PM, Gylfason A, Halldorsson BV, Gudbjartsson D, Thorgeirsson TE, Sigurdsson A, Jonasdottir A, Jonasdottir A, Bjornsson A, Mattiasdottir S, Blondal T, Haraldsson M, Magnusdottir BB, Giegling I, Moller HJ, Hartmann A, Shianna KV, Ge D, Need AC, Crombie C, Fraser G, Walker N, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Paunio T, Toulopoulou T, Bramon E, Di Forti M, Murray R, Ruggeri M, Vassos E, Tosato S, Walshe M, Li T, Vasilescu C, Muhleisen TW, Wang AG, Ullum H, Djurovic S, Melle I, Olesen J, Kiemeney LA, Franke B, Sabatti C, Freimer NB, Gulcher JR, Thorsteinsdottir U, Kong A, Andreassen OA, Ophoff RA, Georgi A, Rietschel M, Werge T, Petursson H, Goldstein DB, Nothen MM, Peltonen L, Collier DA, St Clair D, Stefansson K,. 2008. Large recurrent microdeletions associated with schizophrenia. Nature 455: 232-236.
75. 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.
76. Thatcher K, Peddada S, Yasui D, LaSalle JM,. 2005. Homologous pairing of 15q11-13 imprinted domains in brain is developmentally regulated but deficient in Rett and autism samples. Hum Mol Genet 14: 785-797.
77. Tsai MC, Manor O, Wan Y, Mosammaparast N, Wang JK, Lan F, Shi Y, Segal E, Chang HY,. 2010. Long noncoding RNA as modular scaffold of histone modification complexes. Science.
78. Veenstra-Vanderweele J, Christian SL, Cook EH, Jr., 2004. Autism as a paradigmatic complex genetic disorder. Annu Rev Genomics Hum Genet 5: 379-405.
79. Vitali P, Royo H, Marty V, Bortolin-Cavaille ML, Cavaille J,. 2010. Long nuclear-retained non-coding RNAs and allele-specific higher-order chromatin organization at imprinted snoRNA gene arrays. J Cell Sci 123: 70-83.
80. Vu T, Hoffman A,. 1997. Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. Nat Genet 17: 12-13.
81. Wang Y, Fischle W, Cheung W, Jacobs S, Khorasanizadeh S, Allis CD,. 2004. Beyond the double helix: writing and reading the histone code. Novartis Found Symp 259:3-17; discussion 17-21, 163-169.
82. Webb T, Clarke D, Hardy CA, Kilpatrick MW, Corbett J, Dahlitz M,. 1995. A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome. J Med Genet 32: 181-185.
83. Wilkinson LS, Davies W, Isles AR,. 2007. Genomic imprinting effects on brain development and function. Nat Rev Neurosci 8: 832-843.
84. Williams CA, Zori RT, Stone JW, Gray BA, Cantu ES, Ostrer H,. 1990. Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting [see comments]. Am J Med Genet 35: 350-353.
85. Xu N, Tsai CL, Lee JT,. 2006. Transient homologous chromosome pairing marks the onset of X inactivation. Science.
86. 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.
87. Yang T, Adamson T, Resnick J, Leff S, Wevrick R, Franke U, Jenkins N, Copeland N, Brannan C,. 1998. A mouse model for Prader-Willi syndrome imprinting-centre mutations. Nat Genet 19: 25-31.
88. Yasui DH, Peddada S, Bieda MC, Vallero RO, Hogart A, Nagarajan RP, Thatcher KN, Farnham PJ, Lasalle JM,. 2007. Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes. Proc Natl Acad Sci USA 104: 19416-19421.