Transcription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus

PLoS Genetics

Volumn 7, Issue 12, 2011, Pages

  Smith, Emily Y ^a   Futtner, Christopher R ^a,b   Chamberlain, Stormy J ^a,c   Johnstone, Karen A ^a,d   Resnick, James L ^a  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

^d UNIVERSITY OF EXETER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MESSENGER RNA; SMALL NUCLEAR RIBONUCLEOPROTEIN;

ANIMAL CELL; ARTICLE; CONTROLLED STUDY; DISEASE ACTIVITY; DNA METHYLATION; DNA SEQUENCE; EXON; GENE DELETION; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENE LOCUS; GENE SILENCING; GENETIC CONSERVATION; GENOME ANALYSIS; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; MOLECULAR DYNAMICS; MOLECULAR INTERACTION; MOLECULAR PATHOLOGY; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; OOCYTE; PRADER WILLI SYNDROME; PROMOTER REGION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SNRPN GENE; SOUTHERN BLOTTING; TRANSCRIPTION REGULATION; TRANSGENE; ALLELE; ANIMAL; C57BL MOUSE; GENETIC EPIGENESIS; GENETIC TRANSCRIPTION; GENETICS; HUMAN; METABOLISM; TRANSGENIC MOUSE;

MURINAE;

ALLELES; ANGELMAN SYNDROME; ANIMALS; DNA METHYLATION; EPIGENESIS, GENETIC; EXONS; GENE EXPRESSION REGULATION; GENETIC LOCI; GENOMIC IMPRINTING; HUMANS; MICE; MICE, INBRED C57BL; MICE, TRANSGENIC; OOCYTES; PRADER-WILLI SYNDROME; RNA, MESSENGER, STORED; SNRNP CORE PROTEINS; TRANSCRIPTION, GENETIC;

EID: 84855273820     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1002422     Document Type: Article

References (49)

1. Lewis A, Reik W, (2006) How imprinting centres work. Cytogenet Genome Res 113: 81-89.
2. Razin A, Cedar H, (1994) DNA Methylation and Genomic Imprinting. Cell 77: 473-476.
3. Margueron R, Trojer P, Reinberg D, (2005) The key to development: interpreting the histone code? Curr Opin Genet Dev 15: 163-176.
4. Kitsberg D, Selig S, Brandeis M, Simon I, Keshet I, et al. (1993) Allele-specific replication timing of imprinted gene regions. Nature 364: 459-463.
5. Kishino T, Lalande M, Wagstaff J, (1997) UBE3A/E6-AP mutations cause Angelman syndrome. Nature Genetics 15: 70-73.
6. Matsuura T, Sutcliffe JS, Fang P, Galjaard R-J, Jiang Y-H, et al. (1997) De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nature Genetics 15: 74-77.
7. Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, et al. (1995) Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet 9: 395-400.
8. Dittrich B, Buiting K, Korn B, Rickard S, Buxton J, et al. (1996) Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat Genet 14: 163-170.
9. Brannan CI, Bartolomei MS, (1999) Mechanisms of genomic imprinting. Current Opinion in Genetics and Development 9: 164-170.
10. Shemer R, Hershko AY, Perk J, Mostoslavsky R, Tsuberi B, et al. (2000) The imprinting box of the Prader-Willi/Angelman syndrome domain. Nature Genetics 26: 440-443.
11. Buiting K, Lich C, Cottrell S, Barnicoat A, Horsthemke B, (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. Ohta T, Gray TA, Rogan PK, Buiting K, Gabriel JM, et al. (1999) Imprinting-mutation mechanisms in Prader-Willi syndrome. American Journal of Human Genetics 64: 397-413.
13. Farber C, Dittrich B, Buiting K, Horsthemke B, (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. Wawrzik M, Spiess AN, Herrmann R, Buiting K, Horsthemke B, (2009) Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis. Eur J Hum Genet 17: 1463-1470.
15. Mapendano CK, Kishino T, Miyazaki K, Kondo S, Yoshiura K, et al. (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. Bressler J, Tsai TF, Wu MY, Tsai SF, Ramirez MA, et al. (2001) The SNRPN promoter is not required for genomic imprinting of the Prader- Willi/Angelman domain in mice. Nature Genetics 28: 232-240.
17. Landers M, Bancescu DL, Le Meur E, Rougeulle C, Glatt-Deeley H, et al. (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 Meur E, Watrin F, Landers M, Sturny R, Lalande M, et al. (2005) Dynamic developmental regulation of the large non-coding RNA associated with the mouse 7C imprinted chromosomal region. Dev Biol 286: 587-600.
19. Peery EG, Elmore MD, Resnick JL, Brannan CI, Johnstone KA, (2007) A targeted deletion upstream of Snrpn does not result in an imprinting defect. Mamm Genome 18: 255-262.
20. Wu MY, Chen KS, Bressler J, Hou A, Tsai TF, et al. (2006) Mouse imprinting defect mutations that model Angelman syndrome. Genesis 44: 12-22.
21. Yang T, Adamson TE, Resnick JL, Leff S, Wevrick R, et al. (1998) A mouse model for Prader-Willi syndrome imprinting-centre mutations. Nature Genetics 19: 25-31.
22. Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, et al. (1994) Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat Genet 8: 52-58.
23. Gabriel JM, Gray TA, Stubbs L, Saitoh S, Ohta T, et al. (1998) Structure and function correlations at the imprinted mouse Snrpn locus. Mamm Genome 9: 788-793.
24. Shemer R, Birger Y, Riggs AD, Razin A, (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. Hiura H, Obata Y, Komiyama J, Shirai M, Kono T, (2006) Oocyte growth-dependent progression of maternal imprinting in mice. Genes Cells 11: 353-361.
26. Lucifero D, Mann MR, Bartolomei MS, Trasler JM, (2004) Gene-specific timing and epigenetic memory in oocyte imprinting. Hum Mol Genet 13: 839-849.
27. Hajkova P, Erhardt S, Lane N, Haaf T, El-Maarri O, et al. (2002) Epigenetic reprogramming in mouse primordial germ cells. Mech Dev 117: 15-23.
28. Wakeland EK, Morel L, Achey K, Yui M, Longmate J, (1997) Speed congenics: A classic technique in the fast lane (relatively speaking). Immunology Today 18: 472-477.
29. Ohta T, Buiting K, Kokkonen H, McCandless S, Heeger S, et al. (1999) Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation. Am J Hum Genet 64: 385-396.
30. Saitoh S, Buiting K, Rogan PK, Buxton JL, Driscoll DJ, et al. (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. Szabo PE, Mann JR, (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. Szabo PE, Hubner K, Scholer H, Mann JR, (2002) Allele-specific expression of imprinted genes in mouse migratory primordial germ cells. Mech Dev 115: 157-160.
33. Obata Y, Kono T, (2002) Maternal Primary Imprinting Is Established at a Specific Time for Each Gene throughout Oocyte Growth. J Biol Chem 277: 5285-5289.
34. Yamazaki Y, Mann MR, Lee SS, Marh J, McCarrey JR, et al. (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. Blaydes SM, Elmore M, Yang T, Brannan CI, (1999) Analysis of murine Snrpn and human SNRPN gene imprinting in transgenic mice. Mammalian Genome 10: 549-555.
36. Buiting K, (2010) Prader-Willi syndrome and Angelman syndrome. Am J Med Genet C Semin Med Genet 154C: 365-376.
37. 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.
38. Johnstone KA, DuBose AJ, Futtner CR, Elmore MD, Brannan CI, et al. (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. Rougeulle C, Cardoso C, Fontes M, Colleaux L, Lalande M, (1998) An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript. Nat Genet 19: 15-16.
40. Glenn CC, Saitoh S, Jong MT, Filbrandt MM, Surti U, et al. (1996) Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene. Am J Hum Genet 58: 335-346.
41. Gray TA, Saitoh S, Nicholls RD, (1999) An imprinted, mammalian bicistronic transcript encodes two independent proteins. Proc Natl Acad Sci U S A 96: 5616-5621.
42. Tsai TF, Jiang YH, Bressler J, Armstrong D, Beaudet AL, (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. Zogel C, Bohringer S, Gross S, Varon R, Buiting K, et al. (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. Peters J, Robson JE, (2008) Imprinted noncoding RNAs. Mamm Genome 19: 493-502.
45. Chotalia M, Smallwood SA, Ruf N, Dawson C, Lucifero D, et al. (2009) Transcription is required for establishment of germline methylation marks at imprinted genes. Genes Dev 23: 105-117.
46. Smallwood SA, Tomizawa S, Krueger F, Ruf N, Carli N, et al. (2011) Dynamic CpG island methylation landscape in oocytes and preimplantation embryos. Nat Genet 43: 811-814.
47. Lee EC, Yu D, Martinez de Velasco J, Tessarollo L, Swing DA, et al. (2001) A highly efficient Escherichia coli-based chromosome engineering system adapted for recombinogenic targeting and subcloning of BAC DNA. Genomics 73: 56-65.
48. Siegel RW, Jain R, Bradbury A, (2001) Using an in vivo phagemid system to identify non-compatible loxP sequences. FEBS Lett 505: 467-473.
49. Clark SJ, Harrison J, Paul CL, Frommer M, (1994) High sensitivity mapping of methylated cytosines. Nucleic Acids Res 22: 2990-2997.