Abstract
Genomic imprinting can be regarded as one of many variants of epigenetic modes of gene regulation in eukaryotic cells. There is no a priori reason, therefore, to invoke fundamentally novel mechanisms to explain the imprinting phenomenon in mammals. For example, the different factors involved in imprinting, such as the stable propagation of different chromatin states that repress or permit gene transcription, are well-known entities in a wide range of eukaryotic cells (see Pirotta Chap. 10, and Geramisova and Corces Chap. 11, this vol.). From this point of view, we should perhaps consider the mechanism(s) of imprinting as being the unusual result of combinatory events that occur regularly on an evolutionary scale.
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References
Adam G, Cui H, Miller S, Flam F, Ohlsson R (1996) Allele-specific in situ hybridization (ASISH) analysis: a novel technique which resolves differential allelic usage of H19 within the same cell lineage during human placental development. Development 122: 839–847
Adenot P, Mercier Y, Renard J-P, Thompson E (1997) Differential H4 acetylation of paternal and maternal chromatin precedes DNA replication and differential transcriptional activity in pronuclei of 1-cell mouse embryos. Development 124: 4615–4625
Ainscough J, Koide T, Tada M, Barton S, Surani M (1997) Imprinting of Igf2 and H19 from a 130-kb YAC transgene. Development 124: 3621–3632
Allen N, Norris M, Surani M (1990) Epigenetic control of transgene expression and imprinting by genotype-specific modifiers. Cell 61: 853–861
Banerjee S, Smallwood A (1995) A chromatin model of IGF2/H19 imprinting. Nat Genet 11: 237–238
Barlow D (1993) Methylation and imprinting: from host defence to gene regulation. Science 260: 309–310
Bartolomei MM, Webber AL, Brunkow ME, Tilghman SM (1993) Epigenetic mechanisms underlying the imprinting of the mouse H19 gene. Genes Dev 7: 1663–1673
Bestor TH (1990) DNA methylation: evolution of a bacterial immune function into a regulator of gene expression and genome structure in higher eukaryotes. Philos Trans R Soc Lond B 326: 179–187
Bickmore W, Carothers A (1995) Factors affecting the timing and imprinting of replication on a mammalian chromosome. J Cell Sci 108: 2801–2809
Brandeis M FD, Keshet I, Siegfried Z, Mendelsohn M, Nemes A, Temper, Razin A, Cedar H (1994) Spl elements protect a CpG island from de novo methylation. Nature 371: 435–438
Brink R (1973) Paramutation. Annu Rev Genet 7: 129–152
Buiting K, Dittrich B, Robinson WP, Guitart M, Abeliovich D, Lerer I, Horsthemke B (1994) Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications. Hum Mol Genet 3: 893–895
Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls R, 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
Buiting K, Dittrich B, Groß S, Lich C, Färber C, Buchholz T, Smith E, Reis A, Bürger J, Nöthen M, Barth-Witte U, Janssen B, Abeliovich D, Lerer I, van den Ouweland A, Halley D, SchranderStumpel C, Smeets H, Meinecke P, Malcolm S, Gardner A, Lalande M, Nicholls R, Friend K, Schulze A, Matthijs G, Kokkonen H, Hilbert P, Van Maldergem L, Glover G, Carbonell P, Willems P, Gillessen-Kaesbach G, Horsthemke B (1998) Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint switch models, genetic counseling and prenatal diagnosis. Am J Hum Genet (in press)
Bürger J, Buiting K, Dittrich B, Groß S, Lich C, Sperling K, Horsthemke B, Reis A (1997) Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome. Am J Hum Genet 61: 88–93
Colot V, Rossiguol JL (1996) Interchromosomal transfer of epigenetic states in ascobolus: Transfer of DNA methylation is mechanistically related to homologous recombination. Cell 86: 855–864
De Rubertis F, Kadosh D, Henchoz S, Pauli D, Reuter G, Struhl K, Spierer P (1996) The histone deacetylase RPD3 counteracts genomic silencing in Drosophila and yeast. Nature 384: 589–591
Dittrich B, Buiting K, Korn B, Rickard S, Buxton J, Saitoh S, Nicholls RD, Poustka A, Winterpacht A, Zabel B, Horsthemke B (1996) Imprint switch mutation on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat Genet 14: 163–170
Ekström TJ, Cui H, Li X, Ohlsson R (1995) Promoter-specific IGF2 imprinting status and its plasticity during human liver development. Development 121: 309–316
Elson D, Bartolomei M (1997) A 5’ differentially methylated sequence and the 3’-flanking region are necessary for H19 transgene imprinting. Mol Cell Biol 17: 309–317
Feil R, Walter J, Allen N, Reik W (1994) Developmental control of allelic methylation in the imprinted mouse Igf2 and H19 genes. Development 120: 2933–2943
Feil R, Boyano M, Allen N, Kelsey G (1997) Parental chromosome-specific chromatin conformation in the imprinted U2afl-rs1 gene in the mouse. J Biol Chem 272: 20893–20900
Franke A, Messmer S, Mohrle A, Orlando V, Zink D, Paro R (1994) Mechanisms of heritable gene silencing during Drosophila development. Biochem Soc Trans 22: 561–565
Franklin GC, Adam GIR, Ohlsson R (1996) Genomic imprinting and mammalian development. Placenta 17: 3–14
Garrick D, Fiering S, Martin D, Whitelaw E (1998) Repeat-induced gene silencing in mammals. Nat Genet 18: 56–59
Glenn C, Nicholls R, Robinson W, Saitoh S, Niikawa N, Schinzel A, Horsthemke B, Driscoll DJ (1993) Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. Hum Mol Genet 2: 1377–1382
Goodrich J, Puangsomlee P, Martin M, Long D, Meyerowitz E, Coupland G (1997) A Polycomb-group gene regulates homeotic gene expression in Arabidopsis. Nature 386: 44–51
Greally J, Guinness M, McGrath J, Zemel S (1997) Matrix-attachment regions in the mouse chromosome 7F imprinted domain. Mamm Genome 8: 805–810
Greally J, Starr D, Hwang S, Song L, Jaarola M, Zemel S (1998) The mouse H19 locus mediates a transition between imprinted and non-imprinted DNA replication patterns. Hum Mol Genet 7: 91–95
Grunstein M (1997) Histone acetylation in chromatin structure and transcription. Nature 389: 349–352
Gunaratne P, Nakao M, Ledbetter D, Sutcliffe J, Chinault A (1995) Tissue-specific and allele.specific replication timing control in the imprinted human Prader-Willi syndrome region. Genes Dev 9: 808–820
Holländer G, Zuklys S, Morel C, Mizoguchi E, Mobisson K, Simpson S, Terhorst C, Wishart W, Golan D, Bhan A, Burakoff S (1998) Monoallelic expression of the interleukin-2 locus. Science 279: 2118–2121
Holliday R (1987) The inheritance of epigenetic defects. Science 238: 163–170
Holmquist G (1975) Hoechst 33258 fluorescent staining of Drosophila chromosomes. Chromosoma 49: 333–356
Horsthemke B, Dittrich B, Buiting K (1995) Parent-of-origin specific DNA methylation and imprinting mutations on human chromosome 15. In Parental imprinting: causes and consequences. Cambridge University Press, Cambridge, pp 295–308
Hu J, Vu T, Hoffman A (1997) Genomic deletion of an imprint maintenance element abolishes imprinting of both insulin-like growth factor II and H19. J Biol Chem 272: 20715–20720
James TC, Elgin SC (1986) Identification of a nonhistone chromosomal protein associated with heterochromatin in Drosophila melanogaster and its gene. Mol Cell Biol 6: 3862–3872
James TC, Eissenberg JC, Craig C, Dietrich V, Hobson A, Elgin SC (1989) Distribution patterns of HP1, a heterochromatin-associated nonhistone chromosomal protein of Drosophila. Eur J Cell Biol 50: 170–180
Jeppesen P (1997) Histone acetylation: a possible mechanism for the inheritance of cell memory at mitosis. Bioessays 19: 67–74
Jeppesen P, Turner B (1993) The inactive X chromosome in female mammals is distinguished by a lack of histone H4 acetylation, a cytogenetic marker for gene expression. Cell 74: 281–289
Karpen G, Allshire R (1997) The case for epigenetic effects on centromere identity and function. Trends Genet 13: 489–496
Khosla S, Kantheti P, Brahmachari V, Chandra H (1996) A male-specific nuclease-resistant chromatin fraction in the mealybug Planococcus lilacinus. Chromosoma 104: 386–392
Kitsberg D, Selig S, Brandeis M, Simon I, Keshet I, Driscoll DJ, Nicholls RD, Cedar H (1993) Allelespecific replication timing of imprinted gene regions. Nature 364: 459–463
Knoll JHM, Cheng S-D, LaLande M (1994) Allele-specificity of DNA replication timing in the Angelman/Prader Willi syndrome imprinted chromosomal region. Nat Genet 6: 41–46
LaSalle J, Lalande M (1995) Domain organisation of allele-specific replication within the GABRB3 gene cluster requires biparental 15q11–13 contribution. Nat Genet 9: 386–394
LaSalle J, Lalande M (1996) Homologous association of oppositely imprinted chromosomal domains. Science 272: 725–728
Leighton P, Saam J, Ingram R, Stewart C, Tilghman S (1995a) An enhancer deletion affects both H19 and Igf2 expression. Genes Dev 9: 2079–2089
Leighton PA, Ingram RS, Eggenschwiler J, Efstratiadis A, Tilghman SM (1995b) Disruption of imprinting caused by deletion of the H19 gene region in mice. Nature 375: 34–39
Lerchner W, Barlow D (1997) Paternal repression of the imprinted mouse Igf2r locus occurs during implantation and is stable in all tissues of the post-implantation mouse embryo. Mech Dev 61: 141–149
Li E, Beard C, Jaenisch R (1993) Role for DNA methylation in genomic imprinting. Nature 366: 362–365
Looijenga L, Verkerk A, De Groot N, Hochberg A, Oosterhuis J (1997) H19 in normal development and neoplasia. Mol Reprod Dev 46: 419–439
Lyko F, Brenton JD, Surani MA, Paro R (1997) An imprinting element from the mouse H19 locus functions as a silencer in Drosophila. Nat Genet 16: 171–173
Lyko F, Buiting K, Horsthemke B, Paro R (1998) Identification of a silencing element in the human 15g11-q13 imprinting center by using transgenic Drosophila. Proc Natl Acad Sci USA 95: 1698–1702
Mertineit C, Yoder J, Taketo T, Laird D, Trasler J, Bestor T (1998) Sex-specific exons control DNA methyltransferase in mammalian germ cells. Development 125: 889–897
Moore T, Constancia M, Zubair M, Bailleul B, Feil R, Sasaki H, Reik W (1997) Multiple imprinted sense and antisense transcripts, differential methylation and tandem repeats in a putative imprinting control region upstream of mouse Igf2. Proc Natl Acad Sci USA 94: 12509–12514
Nan X, Campoy F, Bird A (1997) MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin. Cell 88: 471–481
Neumann B, Kubicka P, Barlow DP (1995) Characteristics of imprinted genes. Nat Genet 9: 12–13
Obata Y, Kaneko-Ishino T, Koide T, Takai Y, Ueda T, Domeki I, Shiroishi T, Ishino F (1998) Disruption of primary imprinting during oocyte growth leads to the modified expression of imprinted genes during embryogenesis. Development 125: 1553–1560
Ohlsson R, Hedborg F, Holmgren L, Walsh C, Ekström TJ (1994) Overlapping patterns of IGF2 and H19 expression during human development: biallelic IGF2 expression correlates with a lack of H19 expression. Development 120: 361–368
Ohta T, Buiting K, Kokkonen H, Saitoh S, McCandless S, Cassidy S, Driscoll D, Horsthemke B, Nicholls R (1997) Molecular analysis in two large AS imprinting mutation (IM) families and identification of microdeletion junctions in AS and PWS IM families. Am J Hum Genet 61 (Suppl): A1850
Olek A, Walter J (1997) The pre-implantation ontogeny of the H19 methylation imprint. Nat Genet 17: 275–276
Orlando V, Paro R (1995) Chromatin multiprotein complexes involved in the maintenance of transcription patterns. Curr Opin Genet Dev 5: 174–9
Overall M, Bakker M, Spencer J, Parker N, Smith P, Dziadek M (1997) Genomic imprinting in the rat: linkage of Igf2 and H19 genes and opposite parental allele-specific expression during embryogenesis. Genomics 45: 416–420
Pak DT, Pflumm M, Chesnokov I, Huang DW, Kellum R, Marr J, Romanowski P, Botchan MR (1997) Association of the origin recognition complex with heterochromatin and HP1 in higher eukaryotes. Cell 91: 311–323
Paldi A, Gyapay G, Jami J (1995) Imprinted chromosomal regions of the human genome display sex-specific meiotic recombination frequencies. Curr Biol 15: 1030–1035
Paro R, Hogness DS (1991) The Polycomb protein shares a homologous domain with a heterochromatin-associated protein of Drosophila. Proc Natl Acad Sci USA 88: 263–267
Poirier F, Chan C-T, Timmons P, Robertson E, Evans M, Rigby P (1991) The murine H19 gene is activated during embryonic stem cell differentiation in vitro and at the time of implantation in the developing embryo. Development 113: 1105–1114
Postlethwait J, Yan Y, Gates M, Horne S, Amores A, Brownlie A, Donovan A, Egan E, Force A, Gong Z, Goutel C, Fritz A, Kelsh R, Knapik E, Liao E, Paw B, Ransom D, Singer A, Thomson M, Abduljabbar T, Yelick P, Beier D, Joly J, Larhammar D, Talbot W et al. (1998) Vertebrate genome evolution and the zebrafish gene map. Nat Genet 18: 345–349
Reik W, Maher E (1997) Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome. Trends Genet 13: 330–334
Reik W, Walter J (1998) Imprinting mechanisms in mammals. Curr Opin Genet Dev 7:154–164 Reis A, Dittrich B, Greger V, Buiting K, Lalande M, Gillessen-Kaesbach G, Anvret M, Horsthemke
B (1994) Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet 54: 741–747
Ripoche M, Kress C, Poirier F, Dandolo L (1997) Deletion of the H19 transcription unit reveals the existence of a putative imprinting control element. Genes Dev 11: 1596–1604
Saitoh S, Suiting K, Rogan P, Buxton J, Driscoll D, Arnemann J, König R, Malcolm S, Hors-Themke B, Nicholls R (1996) Minimal definition of the imprinting center and fixation of a chromosome 15q11–13 epigenotype by imprinting mutations. Proc Natl Acad Sci USA 93: 7811–7815
Shemer R, Birger Y, Dean WL, Reik W, Riggs AD, Razin A (1996) Dynamic methylation adjustment and counting as part of imprinting mechanisms. Proc Natl Acad Sci USA 93: 6371–6376
Shemer R, Birger Y, Riggs A, Razin A (1997) Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern. Proc Natl Acad Sci USA 94: 10267–10272
Shibata H, Ueda T, Kamiya M, Yoshiki A, Kusakabe M, Plass C, Held W, Sunahara S, Katsuki M, Muramatsu M, Hayashizaki Y (1997) An oocyte-specific methylation imprint center in the mouse U2afbp-rs/U2afl-rs1 gene marks the establishment of allele-specific methylation during preimplantation development. Genomics 44: 171–178
Singh PB, James TC (1995) Chromobox genes and the molecular mechanisms of cellular determination. In: Ohlsson R, Hall K, Ritzen M (eds) Genomic imprinting: causes and consequences. Cambridge University Press, Cambridge, pp 71–108
Stöger R, Kubicka P, Liu C-G, Kafri T, Razin A, Cedar H, Barlow D (1993) Maternal-specific methylation of the imprinted mouse Ig f2r locus identifies the expressed locus as carrying the imprinting signal. Cell 73: 61–71
Sutcliffe JS, Nakao M, Christian S, Örstavik 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
Svensson K, Walsh C, Fundele R, Ohlsson R (1995) H19 is functionally imprinted in the mouse fetal choroid plexus and leptomeninges. Mech Dev 51: 31–37
Svensson K, Mattsson R, James T, Wentzel P, Pilartz M, MacLaughlin J, Miller S, Olsson T, Eriksson U, Ohlsson R (1998) The paternal allele of the H19 gene is silenced in a stepwise manner during early mouse development: the acetylation status of histones may be involved in the generation of variegated expression patterns. Development 125: 61–69
Szabo P, Mann J (1995) Allele-specific expression and total expression levels of imprinted genes during early mouse development: implications for imprinting. Genes Dev 9: 3097–3108
Tada M, Tada T, Lefebvre L, Barton S, Surani M (1997) Embryonic germ cells induce epigenetic reprogramming of somatic nucleus in hybrid cells. EMBO J 16: 6510–6520
Tada T, Tada M, Hilton K, Barton S, Sado T, Takagi N, Surani M (1998) Epigenotype switching of imprintable loci in embryonic germ cells. Dev Genes Evol 207: 551–562
Tremblay K, Duran K, Bartolomei MS (1997) A 5’ 2-kilobase-pair region of the imprinted mouse H19 gene exhibits exclusive paternal methylation throughout development. Mol Cell Biol 17: 4322–4329
Triolo T, Sternglanz R (1996) Role of interactions between the origin recognition complex and SIR1 in transcriptional silencing. Nature 381: 251–253
Tucker K, Beard C, Dausmann J, Jackson-Grusby L, Laird P, Lei H, Li E, Jaenisch R (1996) Germ-line passage is required for establishment of methylation and expression patterns of imprinted but not of nonimprinted genes. Genes Dev 10: 1008–1020
Tweedie S, Charlton J, Clark V, Bird A (1997) Methylation of genomes and genes at the invertebrate-vertebrate boundary. Mol Cell Biol 17: 1469–1475
Vashee S, Melcher K, Ding W, Johnston S, Kodadek T (1998) Evidence for two modes of cooperative DNA binding in vivo that do not involve direct protein-protein interactions. Curr Biol 8: 452–458
Webber A, Ingram R, Levorse J, Tilghman S (1998) Location of enhancers is essential for the imprinting of H19 and Igf2 genes. Nature 391: 711–715
White L, Rogan P, Nicholls R, Wu B, Korf B, Knoll J (1996) Allele-specific replication of 15q11-q13 loci: adiagnostic test for detection of uniparental disomy. Am J Hum Genet 59: 423–430
Willard H, Salz H (1997) Remodelling chromatin with RNA. Nature 386: 228–229
Wutz A, Smrzka O, Schweifer N, Schellander K, Wagner E, Barlow D (1997) Imprinted expression of the Igf2r gene depends on an intronic CpG island. Nature 389: 745–749
Xu G, Bestor T (1997) Cytosine methylation targetted to pre-determined sequences. Nat Genet 17: 376–378
Yoder JA, Bestor TH (1996) Genetic analysis of genomic methylation patterns in plants and mammals. Biol Chem 377: 605–610
Yoder J, Bestor T (1998) A candidate mammalian DNA methyltransferase related to pmtlp of fission yeast. Hum Mol Genet 7: 279–284
Yoder J, Walsh C, Bestor T (1997) Cytosine methylation and the ecology of intragenomic parasites. Trends Genet 13: 335–340
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Horsthemke, B., Surani, A., James, T., Ohlsson, R. (1999). The Mechanisms of Genomic Imprinting. In: Ohlsson, R. (eds) Genomic Imprinting. Results and Problems in Cell Differentiation, vol 25. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-69111-2_5
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