The Prader-Willi/Angelman imprinted domain and its control centerKantor B. · Shemer R. · Razin A.
Department of Cellular Biochemistry and Human Genetics, The Hebrew University-Hadassah Medical School, Jerusalem (Israel)
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The present review focuses on the recent advances towards understanding the mode of operation of the imprinting center (IC) within the Prader-Willi/Angelman syndromes (PWS/AS) domain. Special emphasis is put on the elucidation of the functional interaction between the two parts of the center, AS-IC and PWS-IC. The recent studies, on which the review is based, reveal cis-acting elements and trans-acting proteins that constitute the two parts of the IC and presumably provide the molecular mechanism for this interaction. AS-IC acquires the primary imprint during gametogenesis by establishing the maternal epigenotype. The unmethylated maternal allele of the AS-IC binds, very likely, a trans-acting factor that confers methylation on the PWS-IC maternal allele after fertilization. It is assumed that the PWS-IC paternal epigenotype, once established, spreads across the entire PWS/AS domain in the soma.
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- Bell AC, West AG, Felsenfeld G: The protein CTCF is required for the enhancer blocking activity of vertebrate insulators. Cell 98:387–396 (1999).
- Bird AP: CpG-rich islands and the function of DNA methylation. Nature 321:209–213 (1986).
- Birger Y, Shemer R, Perk J, Razin A: The imprinting box of the mouse Igf2r gene. Nature 397:84–88 (1999).
- Brannan CI, Bartolomei MS: Mechanisms of genomic imprinting. Curr Opin Genet Dev 9:164–170 (1999).
- Bressler J, Tsai TF, Wu MY, Tsai SF, Ramirez MA, Armstrong D, Beaudet AL: The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice. Nat Genet 28:232–240 (2001).
- Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls DR, Horsthemke B: Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet 9:395–400 (1995).
- Buiting K, Lich C, Cottrell S, Barnicoat A, Horsthemke B: A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp. Hum Genet 105:665–666 (1999).
- Cerrato F, Sparago A, Di Matteo I, Zou X, Dean W, Sasaki H, Smith P, Genesio R, Bruggemann M, Reik W, Riccio A: The two-domain hypothesis in Beckwith-Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster. Hum Mol Genet 14:503–511 (2005).
- Chamberlain SJ, Brannan CI: The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a. Genomics 73:316–322 (2001).
- Delaval K, Feil R: Epigenetic regulation of mammalian genomic imprinting. Curr Opin Genet Dev 14:188–195 (2004).
Dittrich B, Buiting K, Korn B, Rickard S, Buxton J, Saitoh S, Nicholls RD, Poustka A, Winterpacht A, Zabel B, Horsthemke B: Imprint switching on human chromosome 15 may involve alternative transcripts of the SNPRN gene. Nat Genet 14:165–170 (1996).
- 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: Maternal methylation imprints on human chromosome 15 are established during or after fertilization. Nat Genet 27:341–344 (2001).
- Fournier C, Goto Y, Ballestar E, Delaval K, Hever AM, Esteller M, Feil R: Allele-specific histone lysine methylation marks regulatory regions at imprinted mouse genes. EMBO J 21:6560–6570 (2002).
- Hikichi T, Kohda T, Kaneko-Ishino T, Ishino F: Imprinting regulation of the murine Meg1/Grb10 and human GRB10 genes; roles of brain-specific promoters and mouse-specific CTCF-binding sites. Nucleic Acids Res 31:1398–1406 (2003).
- Horike S, Cai S, Miyano M, Cheng JF, Kohwi-Shigematsu T: Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome. Nat Genet 37:31–40 (2005).
Horsthemke B: Imprinting in the PWS/AS region on human chr 15; in Reik W, Surani A (eds): Genomic Imprinting (IRL Press, Oxford 1997).
Jaenisch R, Bird A: Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals. Nat Genet 33 Suppl:245–254 (2003).
- Kafri T, Ariel M, Brandeis M, Shemer R, Urven L, McCarrey J, Cedar H, Razin A: Developmental pattern of gene-specific DNA methylation in the mouse embryo and germline. Genes Dev 6:705–714 (1992).
- Kantor B, Makedonski K, Green-Finberg Y, Shemer R, Razin A: Control elements within the PWS/ AS imprinting box and their function in the imprinting process. Hum Mol Genet 13:751–762 (2004a).
- Kantor B, Kaufman Y, Makedonski K, Razin A, Shemer R: Establishing the epigenetic status of the Prader-Willi/Angelman imprinting center in the gametes and embryo. Hum Mol Genet 13:2767–2779 (2004b).
- Lin SP, Youngson N, Takada S, Seitz H, Reik W, Paulsen M, Cavaille J, Ferguson-Smith AC: Asymmetric regulation of imprinting on the maternal and paternal chromosomes at the Dlk1-Gtl2 imprinted cluster on mouse chromosome 12. Nat Genet 35:97–102 (2003).
Makedonski K, Abuhatzira L, Razin A, Shemer R: MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affect UBE3A expression. Hum Mol Genet 14:1049–1058 (2005).
- Murrell A, Heeson S, Reik W: Interaction between differentially methylated regions partitions the imprinted genes Igf2 and H19 into parent-specific chromatin loops. Nat Genet 36:889–893 (2004).
- Ohta T, Gray A, Rogan PK, Buiting K, Gabriel JM, Saitoh S, Muralidhar B, Bilienska B, Krajewska-Walasek M, Driscoll DJ, Horsthemke B, Butler MG, Nicholls RD: Imprinting mutation mechanisms in Prader-Willi Syndrome. Am J Hum Genet 64:397–413 (1999).
- Perk J, Makedonski K, Lande L, Cedar H, Razin A, Shemer R: The imprinting mechanism of the Prader-Willi/Angelman regional control center. EMBO J 21:5807–5814 (2002).
- Razin A, Cedar H: DNA methylation and genomic imprinting. Cell 77:473–476 (1994).
- Razin A, Shemer R: DNA methylation in early development. Hum Mol Genet 4:1751–1755 (1995).
- Reis A, Dittrich B, Greger V, Buiting K, Lalande M, Gillessen-Kaesbach G, Anvret M, Horsthemke B: Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet 54:741–747 (1994).
- Rougeulle C, Cardoso C, Fontès M, Colleaux L, Lalande M: An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript. Nat Genet 19:15–16 (1998).
- Samaco RC, Hogart A, Lasalle JM: Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3. Hum Mol Genet 14:483–492 (2004).
- Schoenherr CJ, Levorse JM, Tilghman SM: CTCF maintains differential methylation at the Igf2/H19 locus. Nat Genet 33:66–69 (2003).
- Shemer R, Birger Y, Riggs AD, Razin A: Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern. Proc Natl Acad Sci USA 94:10267–10272 (1997).
- Shemer R, Hershko AY, Perk J, Mostoslavsky R, Tsuberi B-Z, Cedar H, Buiting K, Razin A: The imprinting box of the Prader-Willi/Angelman Syndrome domain. Nat Genet 26:440–443 (2000).
- Szabo PE, Pfeifer GP, Mann JR: Parent-of-origin-specific binding of nuclear hormone receptor complexes in the H19-Igf2 imprinting control region. Mol Cell Biol 24:4858–4868 (2004).
- Takada S, Paulsen M, Tevendale M, Tsai CE, Kelsey G, Cattanach BM, Ferguson-Smith AC: Epigenetic analysis of the Dlk1-Gtl2 imprinted domain on mouse chromosome 12: implications for imprinting control from comparison with Igf2-H19. Hum Mol Genet 11:77–86 (2002).
- Tilghman SM: The sins of the fathers and mothers: genomic imprinting in mammalian development. Cell 96:185–193 (1999).
- Tremblay KD, Saam JR, Ingram RS, Tilghman SM, Bartolomei MS: A paternal-specific methylation imprint marks the alleles of the mouse H19 gene. Nat Genet 9:407–413 (1995).
- Watson P, Black G, Ramsden S, Barrow M, Super M, Kerr B, Clayton-Smith J: Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. J Med Genet 38:224–228 (2001).
- Xin Z, Allis CD, Wagstaff J: Parent-specific complementary patterns of histone H3 lysine 9 and H3 lysine 4 methylation at the Prader-Willi syndrome imprinting center. Am J Hum Genet 69:1389–1394 (2001).
- Yang T, Adamson TE, Resnick JL, Leff S, Wevrick R, Francke U, Jenkins NA, Copeland NG, Brannan C: A mouse model for Prader-Willi Syndrome imprinting-center mutations. Nat Genet 19:25–31 (1998).
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