Transcription Is Required to Establish Maternal Imprinting at the Prader-Willi Syndrome and Angelman Syndrome Locus

1. LewisAReikW 2006 How imprinting centres work. Cytogenet Genome Res 113 81 89

2. RazinACedarH 1994 DNA Methylation and Genomic Imprinting. Cell 77 473 476

3. MargueronRTrojerPReinbergD 2005 The key to development: interpreting the histone code? Curr Opin Genet Dev 15 163 176

4. KitsbergDSeligSBrandeisMSimonIKeshetI 1993 Allele-specific replication timing of imprinted gene regions. Nature 364 459 463

5. KishinoTLalandeMWagstaffJ 1997 UBE3A/E6-AP mutations cause Angelman syndrome. Nature Genetics 15 70 73

6. MatsuuraTSutcliffeJSFangPGaljaardR-JJiangY-H 1997 De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nature Genetics 15 74 77

7. BuitingKSaitohSGrossSDittrichBSchwartzS 1995 Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet 9 395 400

8. DittrichBBuitingKKornBRickardSBuxtonJ 1996 Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat Genet 14 163 170

9. BrannanCIBartolomeiMS 1999 Mechanisms of genomic imprinting. Current Opinion in Genetics and Development 9 164 170

10. ShemerRHershkoAYPerkJMostoslavskyRTsuberiB 2000 The imprinting box of the Prader-Willi/Angelman syndrome domain. Nature Genetics 26 440 443

11. BuitingKLichCCottrellSBarnicoatAHorsthemkeB 1999 A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp. Human Genetics 105 665 666

12. OhtaTGrayTARoganPKBuitingKGabrielJM 1999 Imprinting-mutation mechanisms in Prader-Willi syndrome. American Journal of Human Genetics 64 397 413

13. FarberCDittrichBBuitingKHorsthemkeB 1999 The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion. Hum Mol Genet 8 337 343

14. WawrzikMSpiessANHerrmannRBuitingKHorsthemkeB 2009 Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis. Eur J Hum Genet 17 1463 1470

15. MapendanoCKKishinoTMiyazakiKKondoSYoshiuraK 2006 Expression of the Snurf-Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain. J Hum Genet 51 236 243

16. BresslerJTsaiTFWuMYTsaiSFRamirezMA 2001 The SNRPN promoter is not required for genomic imprinting of the Prader- Willi/Angelman domain in mice. Nature Genetics 28 232 240

17. LandersMBancescuDLLe MeurERougeulleCGlatt-DeeleyH 2004 Regulation of the large (∼1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn. Nucleic Acids Res 32 3480 3492

18. Le MeurEWatrinFLandersMSturnyRLalandeM 2005 Dynamic developmental regulation of the large non-coding RNA associated with the mouse 7C imprinted chromosomal region. Dev Biol 286 587 600

19. PeeryEGElmoreMDResnickJLBrannanCIJohnstoneKA 2007 A targeted deletion upstream of Snrpn does not result in an imprinting defect. Mamm Genome 18 255 262

20. WuMYChenKSBresslerJHouATsaiTF 2006 Mouse imprinting defect mutations that model Angelman syndrome. Genesis 44 12 22

21. YangTAdamsonTEResnickJLLeffSWevrickR 1998 A mouse model for Prader-Willi syndrome imprinting-centre mutations. Nature Genetics 19 25 31

22. SutcliffeJSNakaoMChristianSOrstavikKHTommerupN 1994 Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat Genet 8 52 58

23. GabrielJMGrayTAStubbsLSaitohSOhtaT 1998 Structure and function correlations at the imprinted mouse Snrpn locus. Mamm Genome 9 788 793

24. ShemerRBirgerYRiggsADRazinA 1997 Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern. Proc Natl Acad Sci U S A 94 10267 10272

25. HiuraHObataYKomiyamaJShiraiMKonoT 2006 Oocyte growth-dependent progression of maternal imprinting in mice. Genes Cells 11 353 361

26. LuciferoDMannMRBartolomeiMSTraslerJM 2004 Gene-specific timing and epigenetic memory in oocyte imprinting. Hum Mol Genet 13 839 849

27. HajkovaPErhardtSLaneNHaafTEl-MaarriO 2002 Epigenetic reprogramming in mouse primordial germ cells. Mech Dev 117 15 23

28. WakelandEKMorelLAcheyKYuiMLongmateJ 1997 Speed congenics: A classic technique in the fast lane (relatively speaking). Immunology Today 18 472 477

29. OhtaTBuitingKKokkonenHMcCandlessSHeegerS 1999 Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation. Am J Hum Genet 64 385 396

30. SaitohSBuitingKRoganPKBuxtonJLDriscollDJ 1996 Minimal definition of the imprinting center and fixation of chromosome 15q11–q13 epigenotype by imprinting mutations. Proc Natl Acad Sci U S A 93 7811 7815

31. SzaboPEMannJR 1995 Biallelic expression of imprinted genes in the mouse germ line: implications for erasure, establishment, and mechanisms of genomic imprinting. Genes Dev 9 1857 1868

32. SzaboPEHubnerKScholerHMannJR 2002 Allele-specific expression of imprinted genes in mouse migratory primordial germ cells. Mech Dev 115 157 160

33. ObataYKonoT 2002 Maternal Primary Imprinting Is Established at a Specific Time for Each Gene throughout Oocyte Growth. J Biol Chem 277 5285 5289

34. YamazakiYMannMRLeeSSMarhJMcCarreyJR 2003 Reprogramming of primordial germ cells begins before migration into the genital ridge, making these cells inadequate donors for reproductive cloning. Proc Natl Acad Sci U S A 100 12207 12212

35. BlaydesSMElmoreMYangTBrannanCI 1999 Analysis of murine Snrpn and human SNRPN gene imprinting in transgenic mice. Mammalian Genome 10 549 555

36. BuitingK 2010 Prader-Willi syndrome and Angelman syndrome. Am J Med Genet C Semin Med Genet 154C 365 376

37. ChamberlainSJBrannanCI 2001 The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a. Genomics 73 316 322

38. JohnstoneKADuBoseAJFuttnerCRElmoreMDBrannanCI 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

39. RougeulleCCardosoCFontesMColleauxLLalandeM 1998 An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript. Nat Genet 19 15 16

40. GlennCCSaitohSJongMTFilbrandtMMSurtiU 1996 Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene. Am J Hum Genet 58 335 346

41. GrayTASaitohSNichollsRD 1999 An imprinted, mammalian bicistronic transcript encodes two independent proteins. Proc Natl Acad Sci U S A 96 5616 5621

42. TsaiTFJiangYHBresslerJArmstrongDBeaudetAL 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. Human Molecular Genetics 8 1357 1364

43. ZogelCBohringerSGrossSVaronRBuitingK 2006 Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15. Eur J Hum Genet 14 752 758

44. PetersJRobsonJE 2008 Imprinted noncoding RNAs. Mamm Genome 19 493 502

45. ChotaliaMSmallwoodSARufNDawsonCLuciferoD 2009 Transcription is required for establishment of germline methylation marks at imprinted genes. Genes Dev 23 105 117

46. SmallwoodSATomizawaSKruegerFRufNCarliN 2011 Dynamic CpG island methylation landscape in oocytes and preimplantation embryos. Nat Genet 43 811 814

47. LeeECYuDMartinez de VelascoJTessarolloLSwingDA 2001 A highly efficient Escherichia coli-based chromosome engineering system adapted for recombinogenic targeting and subcloning of BAC DNA. Genomics 73 56 65

48. SiegelRWJainRBradburyA 2001 Using an in vivo phagemid system to identify non-compatible loxP sequences. FEBS Lett 505 467 473

49. ClarkSJHarrisonJPaulCLFrommerM 1994 High sensitivity mapping of methylated cytosines. Nucleic Acids Res 22 2990 2997