5 The origins of genomic imprinting in mammals

Advances in Genetics

Volumn 46, Issue , 2002, Pages 119-163

  Sleutels, Frank ^a   Barlow, Denise P ^b  

^a NETHERLANDS CANCER INSTITUTE   (Netherlands)

^b Institute of Molecular Biology Salzburg   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

UNTRANSLATED RNA;

ANIMAL; BIOLOGICAL MODEL; CPG ISLAND; DNA METHYLATION; EVOLUTION; FEMALE; FETUS; GENETICS; GENOME IMPRINTING; GROWTH, DEVELOPMENT AND AGING; HUMAN; IMMUNOLOGY; MALE; MAMMAL; MULTIGENE FAMILY; NUCLEOTIDE REPEAT; PLACENTA; PREGNANCY; PRENATAL DEVELOPMENT; REPRODUCTION; REVIEW;

ANIMALS; CPG ISLANDS; DNA METHYLATION; EMBRYONIC AND FETAL DEVELOPMENT; EVOLUTION; FEMALE; FETUS; GENOMIC IMPRINTING; HUMANS; MALE; MAMMALS; MODELS, GENETIC; MULTIGENE FAMILY; PLACENTA; PREGNANCY; REPETITIVE SEQUENCES, NUCLEIC ACID; REPRODUCTION; RNA, UNTRANSLATED;

EID: 0036371842     PISSN: 00652660     EISSN: None     Source Type: Book Series    
DOI: 10.1016/s0065-2660(02)46006-3     Document Type: Review

References (187)

1. Antequera F. Bird A. CpG islands as genomic footprints of promoters that are associated with replication origins Curr. Biol. 9 1999 661 667
2. Ashe H.L. Monks J. Wijgerde M. Fraser P. Proudfoot N.J. Intergenic transcription and transinduction of the human beta-globin locus Genes Dev. 11 1997 2494 2509
3. Avner P. Heard E. X-chromosome inactivation: counting, choice and initiation Nature Rev. Genet. 2 2000 59 68
4. Barlow D.P. Methylation and imprinting: from host defense to gene regulation? Science 260 1993 309 310
5. Barlow D.P. Competition–A common motif for the imprinting mechanism? EMBO J. 16 1997 6899 6905
6. Bartolomei M.S. Tilghman S.M. Genomic imprinting in mammals Annu. Rev. Genet. 31 1997 493 525
7. Bartolomei M.S. Zemel S. Tilghman S.M. Parental imprinting of the mouse H19 gene Nature 351 1991 153 155
8. Bass B.L. Double-stranded RNA as a template for gene silencing Cell 101 2000 235 238
9. Beechey C.V. Cattanach B.M. Selley R.L. MRC Mammalian Genetics Unit 2000 Harwell Oxfordshire World Wide Web Site: Mouse Imprinting Data and References http://www.mgu.har.mrc.ac.uk/imprinting/implink.html
10. Bell A.C. Felsenfeld G. Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene Nature 405 2000 482 485
11. Bestor T.H. The DNA methyltransferases of mammals Hum. Mol. Genet. 9 2000 2395 2402
12. Bielinska B. Blaydes S.M. Buiting K. Yang T. Krajewska-Walasek M. Horsthemke B. Brannan C.I. De novo deletions of 0SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch Nature Genet. 25 2000 74 78
13. Bickmore W.A. Carothers A.D. Factors affecting the timing and imprinting of replication on a mammalian chromosome J. Cell Sci. 108 1995 2801 2809
14. Bird A.P. DNA methylation and the frequency of CpG in animal DNA Nucleic Acids Res. 8 1980 1499 1504
15. Bird A.P. DNA methylation de novo Science 286 1999 2287 2288
16. Birger Y. Shemer R. Perk J. Razin A. The imprinting box of the mouse Igf2r gene Nature 397 1999 84 88
17. Blaydes S.M. Elmore M. Yang T. Brannan C.I. Analysis of murine Snrpn and human SNRPN gene imprinting in transgenic mice Mamm. Genome 10 1999 549 555
18. Boccaccio I. Glatt-Deeley H. Watrin F. Roeckel N. Lalande M. Muscatelli F. The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region Hum. Mol. Genet 8 1999 2497 2505
19. Brambilla R. Gnesutta N. Minichiello L. White G. Roylance A.J. Herron C.E. Ramsey M. Wolfer D.P. Cestari V. Rossi-Arnaud C. Grant S.G. Chapman P.F. Lipp H.P. Sturani E. Klein R. A role for the Ras signalling pathway in synaptic transmission and long-term memory Nature 390 1997 281 286
20. Brandeis M. Kafri T. Ariel M. Chaillet J.R. McCarrey J. Razin A. Cedar H. The ontogeny of allele-specific methylation associated with imprinted genes in the mouse EMBO J. 12 1993 3669 3677
21. Brannan C.I. Bartolomei M.S. Mechanisms of genomic imprinting Curr. Opin. Genet. Dev. 9 1999 164 170
22. Brown C.J. Ballabio A. Rupert J.L. Lafreniere R.G. Grompe M. Tonlorenzi R. Willard H.F. A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome Nature 349 1991 38 44
23. Bunzel R. Blumcke I. Cichon S. Normann S. Schramm J. Propping P. Nothen M.M. Polymorphic imprinting of the serotonin-2A (5-HT2A) receptor gene in human adult brain Brain Res. Mol. Brain Res. 59 1998 90 92
24. Caspary T. Cleary M.A. Baker C.C. Guan X.J. Tilghman S.M. Multiple mechanisms regulate imprinting of the mouse distal chromosome 7 gene cluster Mol. Cell Biol. 18 1998 3466 3474
25. Caspary T. Cleary M.A. Perlman E.J. Zhang P. Elledge S.J. Tilghman S.M. Oppositely imprinted genes p 57(Kip2) and Igf2 interact in a mouse model for Beckwith-Wiedemann syndrome Genes Dev. 13 1999 3115 3124
26. Cole C.J. Townsend C.R. Parthenogenetic lizards as vertebrate systems J. Exp. Zool. Suppl. 4 1990 174 176
27. Conlon I. Raff M. Size control in animal development Cell 96 1999 235 244
28. Constancia M. Dean W. Lopes S. Moore T. Kelsey G. Reik W. Deletion of a silencer element in Igf2 results in loss of imprinting independent of H19 Nature Genet. 26 2000 203 206
29. Corley-Smith G.E. Lim C.J. Brandhorst B.P. Production of androgenetic zebrafish ( Danio rerio ) Genetics 142 1996 1265 1276
30. Cross S.H. Bird A.P. CpG islands and genes Curr. Opin. Genet. Dev. 5 1995 309 314
31. DeChiara T.M. Efstratiadis A. Robertson E.J. A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting Nature 345 1990 78 80
32. de Los Santos T. Schweizer J. Rees C.A. Francke U. Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which is highly expressed in brain Am. J. Hum. Genet. 67 2000 1067 1082
33. Dittrich B. Buiting K. Gross S. Horsthemke B. Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region Hum. Mol. Genet. 2 1993 1995 1999
34. Duhl D.M. Vrieling H. Miller K.A. Wolff G.L. Barsh G.S. Neomorphic agouti mutations in obese yellow mice Nature Genet. 8 1994 59 65
35. Dunham I. Shimizu N. Roe B.A. Chissoe S. Hunt A.R. Collins J.E. The DNA sequence of human chromosome 22 Nature 402 1999 489 495
36. Duvillie B. Cordonnier N. Deltour L. Dandoy-Dron F. Itier J.M. Monthioux E. Joshi J. Joshi R.L. Bucchini D. Phenotypic alterations in insulin-deficient mutant mice Proc. Natl. Acad. Sci. USA 94 1997 5137 5140
37. El Kharroubi A. Piras G. Stewart C.L. DNA demethylation reactivates a subset of imprinted genes in uniparental mouse embryonic fibroblasts J. Biol. Chem. Dec. 21 2000 epub aheadof print
38. Engemann S. Strodicke M. Paulsen M. Franck O. Reinhardt R. Lane N. Reik W. Walter J. Sequence and functional comparison in the Beckwith-Wiedemann region: Implications for a novel imprinting centre and extended imprinting Hum. Mol. Genet. 9 2000 2691 2706
39. Feil R. Khosla S. Genomic imprinting in mammals: an interplay between chromatin and DNA methylation? Trends Genet. 15 1999 431 435
40. Ferguson-Smith A.C. Sasaki H. Cattanach B.M. Surani M.A. Parental-origin-specific epigenetic modification of the mouse H19 gene Nature 362 1993 751 755
41. Ferrier D.E.K. Holland P.W. Ancient origin of the HOX gene cluster Nature Rev. Genet. 2 2000 33 38
42. Frank D. Keshet I. Shani M. Levine A. Razin A. Cedar H. Demethylation of CpG islands in embryonic cells Nature 351 1991 239 241
43. Frank D. Mendelsohn C.L. Ciccone E. Svensson K. Ohlsson R. Tycko B. A novel pleckstrin homology-related gene family defined by Ipl/Tssc3, TDAG51, and Tih1: Tissue-specific expression, chromosomal location, and parental imprinting Mamm. Genome 10 1999 1150 1159
44. Gerard M. Hernandez L. Wevrick R. Stewart C.L. Disruption of the mouse Necdin gene results in early post-natal lethality Nature Genet. 23 1999 199 202
45. Giannoukakis N. Deal C. Paquette J. Kukuvitis A. Polychronakos C. Polymorphic functional imprinting of the human IGF2 gene among individuals, in blood cells, is associated with H19 expression Biochem. Biophys. Res. Commun. 220 1996 1014 1019
46. Graves J.A. Mammals that break the rules: Genetics of marsupials and monotremes Annu. Rev. Genet. 30 1996 233 260
47. Greally J.M. Gray T.A. Gabriel J.M. Song L. Zemel S. Nicholls R.D. Conserved characteristics of heterochromatin-forming DNA at the 15q11-q13 imprinting center Proc. Natl. Acad. Sci. USA 96 1999 14430 14435
48. Guillemot F. Caspary T. Tilghman S.M. Copeland N.G. Gilbert D.J. Jenkins N.A. Anderson D.J. Joyner A.L. Rossant J. Nagy A. Genomic imprinting of Mash2 , a mouse gene required for trophoblast development Nature Genet. 9 1995 235 242
49. Haig D. Refusing the ovarian time bomb Trends Genet. 10 1994 346 347
50. Hark A.T. Tilghman S.M. Chromatin conformation of the H19 epigenetic mark Hum. Mol. Genet. 7 1998 1979 1985
51. Hatada I. Mukai T. Genomic imprinting of CDKN1, a cyclin-dependent kinase inhibitor, in mouse Nature Genet. 11 1995 204 206
52. Hattori M. Fujiyama A. Taylor T.D. Watanabe H. Yada T. Park H.S. Toyoda A. Ishii K. Totoki Y. Choi D.K. Soeda E. Ohki M. Takagi T. Sakaki Y. Taudien S. Blechschmidt K. Polley A. Menzel U. Delabar J. Kumpf K. Lehmann R. Patterson D. Reichwald K. Rump A. Schillhabel M. Schudy A. The DNA sequence of human chromosome 21. The chromosome 21 mapping and sequencing consortium Nature 18 2000 311 319
53. Herrick G. Seger J. Imprinting and paternal genome elimination in insects Results Probl. Cell Differ. 25 1999 41 71
54. Horike S. Mitsuya K. Meguro M. Kotobuke N. Kashwagi A. Notsu T. Schulz T.C. Shirayoshi Y. Oshimura M. Targeted disruption of the human Lit1 locus defines a putative imprinting control element playing an essential role in Beckwith-Weidemann syndrome Hum. Mol. Genet. 9 2000 2075 2083
55. Hu J.F. Oruganti H. Vu T.H. Hoffman A.R. Tissue-specific imprinting of the mouse insulin-like growth factor II receptor gene correlates with differential allele-specific DNA methylation Mol. Endocrinol. 12 1998 220 232
56. Huq A.H. Sutcliffe J.S. Nakao M. Shen Y. Gibbs R.A. Beaudet A.L. Sequencing and functional analysis of the SNRPN promoter: In vitro methylation abolishes promoter activity Genome Res. 7 1997 642 648
57. Hurst L.D. McVean G.T. Do we understand the evolution of genomic imprinting? Curr. Opin. Genet. Dev. 8 1998 701 708
58. Hurst L.D. McVean G. Moore T. Imprinted genes have few and small introns Nature Genet. 12 1996 234 237
59. Itier J.M. Tremp G.L. Leonard J.F. Multon M.C. Ret G. Schweighoffer F. Tocque B. Bluet-Pajot M.T. Cormier V. Dautry F. Imprinted gene in postnatal growth role Nature 393 1998 125 126
60. Jackson-Grusby L. Beard C. Possemato R. Tudor M. Fambrough D. Csankovszki G. Dausman J. Lee P. Wilson C. Lander E. Jaenisch R. Loss of genomic methylation causes p53-dependent apoptosis and epigenetic deregulation Nat Genet. 27 2001 31 39
61. Jiang Y.H. Armstrong D. Albrecht U. Atkins C.M. Noebels J.L. Eichele G. Sweatt J.D. Beaudet A.L. Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation Neuron. 21 1998 799 811
62. Jinno Y. Sengoku K. Nakao M. Tamate K. Miyamoto T. Matsuzaka T. Sutcliffe J.S. Anan T. Takuma N. Nishiwaki K. Ikeda Y. Ishimaru T. Ishikawa M. Niikawa N. Mouse/human sequence divergence in a region with a paternal-specific methylation imprint at the human H19 locus Hum. Mol. Genet. 5 1996 1155 1161
63. John R.M. Hodges M. Little P. Barton S.C. Surani M.A. A human p57(KIP2) transgene is not activated by passage through the maternal mouse germline Hum. Mol. Genet. 8 1999 2211 2219
64. Jong M.T. Gray T.A. Ji Y. Glenn C.C. Saitoh S. Driscoll D.J. Nicholls R.D. A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region Hum. Mol. Genet. 8 1999 783 793
65. Jones B.K. Levorse J.M. Tilghman S.M. Igf2 imprinting does not require its own DNA methylation or H19 RNA Genes Dev. 12 1998 2200 2207
66. Kalscheuer V.M. Mariman E.C. Schepens M.T. Rehder H. Ropers H.H. The insulin-like growth factor type-2 receptor gene is imprinted in the mouse but not in humans Nature Genet. 5 1993 74 78
67. Kato Y. Rideout W.M. Hilton K. Barton S.C. Tsunoda Y. Surani M.A. Developmental potential of mouse primordial germ cells Development 126 1999 1823 1832
68. Kawame H. Gartler S.M. Hansen R.S. Allele-specific replication timing in imprinted domains: Absence of asynchrony at several loci Hum. Mol. Genet. 4 1995 2287 2293
69. Kidwell M.G. Lisch D. Transposable elements as sources of variation in animals and plants Proc. Natl. Acad. Sci. USA 94 1997 7704 7711
70. Killian J.K. Byrd J.C. Jirtle J.V. Munday B.L. Stoskopf M.K. MacDonald R.G. Jirtle R.L. M6P/IGF2R imprinting evolution in mammals Mol. Cell 5 2000 707 716
71. Kitsberg D. Selig S. Brandeis M. Simon I. Keshet I. Driscoll D.J. Nicholls R.D. Cedar H. Allele-specific replication timing of imprinted gene regions Nature 364 1993 459 463
72. Knoll J.H. Cheng S.D. Lalande M. Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region Nature Genet. 6 1994 41 46
73. Kratochwil K. von der Mark K. Kollar E.J. Jaenisch R. Mooslehner K. Schwarz M. Haase K. Gmachl I. Harbers K. Retrovirus-induced insertional mutation in Mov13 mice affects collagen I expression in a tissue-specific manner Cell 57 1989 807 816
74. Krystal G.W. Armstrong B.C. Battey J.F. N-myc mRNA forms an RNA-RNA duplex with endogenous antisense transcripts Mol. Cell Biol. 10 1990 4180 4191
75. LaSalle J.M. Lalande M. Homologous association of oppositely imprinted chromosomal domains Science 272 1996 725 728
76. Lee J.E. Tantravahi U. Boyle A.L. Efstratiadis A. Parental imprinting of an Igf-2 transgene Mol. Reprod. Dev. 35 1993 382 390
77. Lee J.T. Disruption of imprinted X inactivation by parent-of-origin effects at Tsix Cell 103 2000 17 27
78. Lee J.T. Davidow L.S. Warshawsky D. Tsix , a gene antisense to Xist at the X-inactivation centre Nature Genet. 21 1999 400 404
79. Lee Y.J. Park C.W. Hahn Y. Park J. Lee J. Yun J.H. Hyun B. Chung J. H. Mit1/Lb9 and Copg2 , new members of mouse imprinted genes closely linked to Peg1/Mest(1) FEBS Lett. 472 2000 230 234
80. Lefebvre L. Viville S. Barton S.C. Ishino F. Keverne E.B. Surani M.A. Abnormal maternal behavior and growth retardation associated with loss of the imprinted gene Mest Nature Genet. 20 1998 163 169
81. Leighton P.A. Ingram R.S. Eggenschwiler J. Efstratiadis A. Tilghman S.M. Disruption of imprinting caused by deletion of the H19 gene region in mice Nature 375 1995 34 39
82. Li A.W. Seyoum G. Shiu R.P. Murphy P.R. Expression of the rat bFGF antisense RNA transcript is tissue-specific and developmentally regulated Mol. Cell Endocrinol. 118 1996 113 123
83. Li E. Beard C. Jaenisch R. Role for DNA methylation in genomic imprinting Nature 366 1993 362 365
84. Li L. Keverne E.B. Aparicio S.A. Ishino F. Barton S.C. Surani M.A. Regulation of maternal behavior and offspring growth by paternally expressed Peg3 Science 284 1999 330 333
85. Li L.L. Szeto I.Y. Cattanach B.M. Ishino F. Surani M.A. Organization and parent-of-origin-specific methylation of imprinted Peg3 gene on mouse proximal chromosome 7 Genomics 63 2000 333 340
86. Lyle R. Watanabe D. te Vrucht D. Lerchner W. Smrzka O.W. Wutz A. Schageman J. Hahner L. Davies C. Barlow D.P. The imprinted antisense-M6P-Igf2r-RNA overlaps but does not imprint the flanking Mas gene Nature Genet. 25 2000 19 21
87. Luning Prak E.T. Kazazian H.H. Mobile elements and the human genome Nature Rev. Genet. 1 2000 134 144
88. Macleod D. Charlton J. Mullins J. Bird A.P. Sp1 sites in the mouse aprt gene promoter are required to prevent methylation of the CpG island Genes Dev. 8 1994 2282 2292
89. Mannens M. Alders M. Genomic imprinting: Concept and clinical consequences Ann. Med. 31 1999 4 11
90. Marahrens Y. Panning B. Dausman J. Strauss W. Jaenisch R. Xist -deficient mice are defective in dosage compensation but not spermatogenesis Genes Dev. 11 1997 156 166
91. Martienssen R. Transposons, DNA methylation and gene control Trends Genet. 14 1998 263 264
92. Matsuoka S. Thompson J.S. Edwards M.C. Bartletta J.M. Grundy P. Kalikin L.M. Harper J.W. Elledge S.J. Feinberg A.P. Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, CDKN1, on chromosome 11p15 Proc. Natl. Acad. Sci. USA 93 1996 3026 3030
93. McClintock B. Nobel Prize Lecture; The significance of responses of the genome to challenge Fedoroff N. Botstein D. The Dynamic Genome, Barbara McClintock's Ideas in the Century of Genetics 1992 Cold Spring Harbor Press Cold Spring Harbor, NY 361 380
94. McGrath J. Solter D. Completion of mouse embryogenesis requires both the maternal and paternal genomes Cell 37 1984 179 183
95. Messing J. Grossniklaus U. Genomic imprinting in plants Results Probl. Cell Differ. 25 1999 23 40
96. Mette M.F. Aufsatz W. van Der Winden J. Matzke M.A. Matzke A.J. Transcriptional silencing and promoter methylation triggered by double-stranded RNA EMBO J. 19 2000 5194 5201
97. Mi S. Lee X. Li X.P. Veldman G.M. Finnerty H. Racie L. LaVallie E. Tang X.Y. Edourd P. Howes S. Keith J.C. McCoy J.M. Syncitin is a captive retroviral envelope protein involved in placental morphogenesis Nature 403 2000 785 789
98. Michaud E.J. van Vugt M.J. Bultman S.J. Sweet H.O. Davisson M.T. Woychik R.P. Differential expression of a new dominant agouti allele ( Aiapy ) is correlated with methylation state and is influenced by parental lineage Genes Dev. 8 1994 1463 1472
99. Miura K. Miyoshi O. Yun K. Inazawa J. Miyamoto T. Hayashi H. Masuzaki H. Yoshimura S. Niikawa N. Jinno Y. Ishimaru T. Repeat-directed isolation of a novel gene preferentially expressed from the maternal allele in human placenta J. Hum. Genet. 44 1999 1 9
100. Moore T. Constancia M. Zubair M. Bailleul B. Feil R. Sasaki H. Reik W. 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 1997 12509 12514
101. Moore T. Haig D. Genomic imprinting in mammalian development: A parental tug-of-war Trends Genet. 7 1991 45 49
102. Morison I. Paton C. Cleverley S.D. The imprinted gene and parent-of-origin effect database Nucleic Acids Res. 29 2001 275 276
103. Munn D.H. Zhou M. Attwood J.T. Bondarev I. Conway S.J. Marshall B. Brown C. Mellor A.L. Prevention of allogenic fetal rejection by tryptophan catabolism Science 281 1998 1191 1193
104. Murashov A.K. Wolgemuth D.J. Sense and antisense transcripts of the developmentally regulated murine hsp70.2 gene are expressed in distinct and only partially overlapping areas in the adult brain Brain Res. Mol. Brain Res. 37 1996 85 95
105. Neumann B. Kubicka P. Barlow D.P. Characteristics of imprinted genes Nature Genet. 9 1995 12 13
106. Nishiwaki K. Niikawa N. Ishikawa M. Polymorphic and tissue-specific imprinting of the human Wilms tumor gene, WT1 Jpn. J. Hum. Genet 42 1997 205 211
107. Nogami M. Kohda A. Taguchi H. Nakao M. Ikemura T. Okumura K. Relative locations of the centromere and imprinted SNRPN gene within chromosome 15 territories during the cell cycle in HL60 cells J. Cell Sci. 113 2000 2157 2165
108. Nowak R. Porter R.H. Levy F. Orgeur P. Schaal B. Role of mother-young interactions in the survival of offspring in domestic mammals Rev. Reprod. 5 2000 153 163
109. Obata Y. Kaneko-Ishino T. Koide T. Takai Y. Ueda T. Domeki I. Shiroishi T. Ishino F. Kono T. Disruption of primary imprinting during oocyte growth leads to the modified expression of imprinted genes during embryogenesis Development 25 1998 1553 1560
110. Ogawa O. McNoe L.A. Eccles M.R. Morison I.M. Reeve A.E. Human insulin-like growth factor type I and type II receptors are not imprinted Hum. Mol. Genet. 2 1993 2163 2165
111. Okamura K. Hagiwara-Takeuchi Y. Li T. Vu T.H. Hirai M. Hattori M. Sakaki Y. Hoffman A.R. Ito T. Comparative genome analysis of the mouse imprinted gene impact and its nonimprinted human homolog IMPACT : Toward the structural basis for species-specific imprinting Genome Res. 10 2000 1878 1889
112. O'Neill M.J. Ingram R.S. Vrana P.B. Tilghman S.M. Allelic expression of IGF2 in marsupials and birds Dev. Genes Evol. 210 2000 18 20
113. Onyango P. Miller W. Lehoczky J. Leung C.T. Birren B. Wheelan S. Dewar K. Feinberg A.P. Sequence and comparative analysis of the mouse 1-megabase region orthologous to the human 11p15 imprinted domain Genome Res. 10 2000 1697 1710
114. Oswald J. Engemann S. Lane N. Mayer W. Olek A. Fundele R. Dean W. Reik W. Walter J. Active demethylation of the paternal genome in the mouse zygote Curr. Biol. 10 2000 475 478
115. Paldi A. Jouvenot Y. Allelic trans-sensing and imprinting Results Probl. Cell Differ. 25 1999 271 282
116. Pardo-Manuel de Villena F. de la Casa-Esperon E. Sapienza C. Natural selection and the function of genome imprinting: Beyond the silenced minority Trends Genet. 16 2000 573 579
117. Paulsen M. El-Maarri O. Engemann S. Strodicke M. Franck O. Davies K. Reinhardt R. Reik W. Walter J. Sequence conservation and variability of imprinting in the Beckwith-Wiedemann syndrome gene cluster in human and mouse Hum. Mol. Genet 22 2000 1829 1841
118. Pearsall R.S. Plass C. Romano M.A. Garrick M.D. Shibata H. Hayashizaki Y. Held W.A. A direct repeat sequence at the Rasgrf1 locus and imprinted expression Genomics 55 1999 194 201
119. Peters J. Wroe S.F. Wells C.A. Miller H.J. Bodle D. Beechey C.V. Williamson C.M. Kelsey G. A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2 Proc. Natl. Acad. Sci. USA 96 1999 3830 3835
120. Pfeifer K. Leighton P.A. Tilghman S.M. The structural H19 gene is required for transgene imprinting Proc. Natl. Acad. Sci. USA 93 1996 13876 13883
121. Pfeifer K. Tilghman S.M. Allele-specific gene expression in mammals: The curious case of the imprinted RNAs Genes Dev. 8 1994 1867 1874
122. Plass C. Shibata H. Kalcheva I. Mullins L. Kotelevtseva N. Mullins J. Kato R. Sasaki H. Hirotsune S. Okazaki Y. Held W.A. Hayashizaki Y. Chapman V. Identification of Grf1 on mouse chromosome 9 as an imprinted gene by RLGS-M Nature Genet. 14 1996 106 109
123. Potter S.S. Branford W.W. Evolutionary conservation and tissue-specific processing of Hoxa 11 antisense transcripts Mamm. Genome 9 1998 799 806
124. Ramsahoye B.H. Biniszkiewicz D. Lyko F. Clark V. Bird A.P. Jaenisch R. Non-CpG methylation is prevalent in embryonic stem cells and may be mediated by DNA methyltransferase 3a Proc. Natl. Acad. Sci. USA 97 2000 5237 5242
125. Reik W. Walter J. Genomic imprinting: parental influences on the genome Nature Rev. Genet. 2 2000 21 32
126. Ripoche M.A. Kress C. Poirier F. Dandolo L. Deletion of the H19 transcription unit reveals the existence of a putative imprinting control element Genes Dev. 11 1997 1596 1604
127. Sado T. Fenner M.H. Tan S.S. Tam P. Shioda T. Li E. X inactivation in the mouse embryo deficient for Dnmt1 : Distinct effect of hypomethylation on imprinted and random X inactivation Dev. Biol. 225 2000 294 303
128. Sarvella P. Adult parthenogenetic chickens Nature 243 1973 171
129. Sasaki H. Jones P.A. Chaillet J.R. Ferguson-Smith A.C. Barton S.C. Reik W. Surani M.A. Parental imprinting: potentially active chromatin of the repressed maternal allele of the mouse insulin-like growth factor II ( Igf2 ) gene Genes Dev. 6 1992 1843 1856
130. Sasaki H. Shimozaki K. Zubair M. Aoki N. Ohta K. Hatano N. Moore T. Feil R. Constancia M. Reik W. Rotwein P. Nucleotide sequence of a 28-kb mouse genomic region comprising the imprinted Igf2 gene DNA Res. 3 1996 331 335
131. Schmidt J.V. Levorse J.M. Tilghman S.M. Enhancer competition between H19 and Igf2 does not mediate their imprinting Proc. Natl. Acad. Sci. USA 96 1999 9733 9738
132. Schmidt J.V. Matteson P.G. Jones B.K. Guan X.J. Tilghman S.M. The Dlk1 and Gtl2 genes are linked and reciprocally imprinted Genes Dev. 14 2000 1997
133. Schuster-Gossler K. Simon-Chazottes D. Guenet J.L. Zachgo J. Gossler A. Gtl2lacZ , an insertional mutation on mouse chromosome 12 with parental origin-dependent phenotype Mamm. Genome 7 1996 20 24
134. Schweifer N. Valk P.J.M. Delwel R. Cox R. Francis F. Meier-Ewert S. Lehrach H. Barlow D.P. Characterization of the C3 YAC contig from proximal mouse chromosome 17 and analysis of allelic expression of genes flanking the imprinted Igf2r gene Genomics 43 1997 285 297
135. Shemer R. Birger Y. Riggs A.D. Razin A. Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern Proc. Natl. Acad. Sci. USA 94 1997 10267 11072
136. Shemer R. Hershko A.Y. Perk J. Mostoslavsky R. Tsuberi B.Z. Cedar H. Buiting K. Razin A. The imprinting box of the Prader-Willi/Angelman syndrome domain Nature Genet. 26 2000 440 443
137. Shibata H. Ueda T. Kamiya M. Yoshiki A. Kusakabe M. Plass C. Held W.A. Sunahara S. Katsuki M. Muramatsu M. Hayashizaki Y. An oocyte-specific methylation imprint center in the mouse U2afbp-rs/U2af1-rs1 gene marks the establishment of allele-specific methylation during preimplantation development Genomics 44 1997 171 178
138. Shibata H. Yoda Y. Kato R. Ueda T. Kamiya M. Hiraiwa N. Yoshiki A. Plass C. Pearsall R.S. Held W.A. Muramatsu M. Sasaki H. Kusakabe M. Hayashizaki Y. A methylation imprint mark in the mouse imprinted gene Grf1/Cdc25Mm locus shares a common feature with the U2afbp-rs gene: An association with a short tandem repeat and a hypermethylated region Genomics 49 1998 30 37
139. Sleutels F. Barlow D.P. Lyle R. The uniqueness of the imprinting mechanism Curr. Opin. Genet. Dev. 10 2000 229 233
140. Smilinich N.J. Day C.D. Fitzpatrick G.V. Caldwell G.M. Lossie A.C. Cooper P.R. Smallwood A.C. Joyce J.A. Schofield P.N. Reik W. Nicholls R.D. Weksberg R. Driscoll D.J. Maher E.R. Shows T.B. Higgins M.J. A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome Proc. Natl. Acad. Sci. USA 96 1999 8064 8069
141. Smit A.F. Interspersed repeats and other momentos of transposable elements in mammalian genomes Curr. Opin. Genet. Dev. 9 1999 657 663
142. Smrzka O.W. Fae I. Stoger R. Kurzbauer R. Fischer G.F. Henn T. Weith A. Barlow D.P. Conservation of a maternal-specific methylation signal at the human IGF2R locus Hum. Mol. Genet. 4 1995 1945 1952
143. Snow M.H.L. Growth and its control in early mammalian development Br. Med. Bull. 37 1981 221 226
144. Solter D. Differential imprinting and expression of maternal and paternal genomes Annu. Rev. Genet. 22 1988 127 146
145. Solter D. Imprinting Int. J. Dev. Biol. 42 1998 951 954
146. Stadnick M.P. Pieracci F.M. Cranston M.J. Taksel E. Thorvaldsen J.L. Bartolomei M.S. Role of a 461-bp G-rich repetitive element in H19 transgene imprinting Dev. Genes Evol. 209 1999 239 248
147. Stancheva I. Meehan R.R. Transient depletion of xDnmt1 leads to premature gene activation in Xenopus embryos Genes Dev. 14 2000 313 327
148. Stöger R. Kubicka P. Liu C.G. Kafri T. Razin A. Cedar H. Barlow D.P. Maternal-specific methylation of the imprinted mouse M6P-Igf2r locus identifies the expressed locus as carrying the imprinting signal Cell 73 1993 61 71
149. Sunahara S. Nakamura K. Nakao K. Gondo Y. Nagata Y. Katsuki M. The oocyte-specific methylated region of the U2afbp-rs/U2af1-rs1 gene is dispensable for its imprinted methylation Biochem. Biophys. Res. Commun. 268 2000 590 595
150. Surani M.A. Imprinting and the initiation of gene silencing in the germ line Cell 93 1998 309 311
151. Surani M.A. Barton S.C. Norris M.L. Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis Nature 308 1984 548 550
152. Sutcliffe J.S. Nakao M. Christian S. Orstavik K.H. Tommerup N. Ledbetter D.H. Beaudet A.L. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region Nature Genet. 8 1994 52 58
153. Svoboda P. Stein P. Hayashi H. Schultz R.M. Selective reduction of dormant maternal mRNAs in mouse oocytes by RNA interference Development 127 2000 4147 4156
154. Szabo P.E. Mann J.R. Allele-specific expression and total expression levels of imprinted genes during early mouse development: implications for imprinting mechanisms Genes Dev. 9 1995 3097 3108
155. Szabo P.E. Mann J.R. Maternal and paternal genomes function independently in mouse ova in establishing expression of the imprinted genes Snrpn and Igf2r : No evidence for allelic trans-sensing and counting mechanisms EMBO J. 15 1996 6018 6025
156. Takada S. Tevendale M. Baker J. Georgiades P. Campbell E. Freeman T. Johnson M.H. Paulsen M. Ferguson-Smith A.C. Delta-like and gtl2 are reciprocally expressed, differentially methylated linked imprinted genes on mouse chromosome 12 Curr. Biol. 10 2000 1135 1138
157. Tasheva E.S. Roufa D.J. Regulation of human RPS14 transcription by intronic antisense RNAs and ribosomal protein S14 Genes Dev. 9 1995 304 316
158. Thorvaldsen J.L. Bartolomei M.S. Mothers setting boundaries Science 288 2000 2145 2146
159. Thorvaldsen J.L. Duran K.L. Bartolomei M.S. Deletion of the H19 differentially methylated domain results in loss of imprinted expression of H19 and Igf2 Genes Dev. 12 1998 3693 3702
160. Tilghman S.M. The sins of the fathers and mothers: Genomic imprinting in mammalian development Cell 96 1999 185 193
161. Tremblay K.D. Saam J.R. Ingram R.S. Tilghman S.M. Bartolomei M.S. A paternal-specific methylation imprint marks the alleles of the mouse H19 gene Nature Genet. 9 1995 407 413
162. Tsai T.F. Jiang Y.H. Bressler J. Armstrong D. Beaudet A.L. 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 Hum. Mol. Genet. 8 1999 1357 1364
163. Varmuza S. Mann M. Genomic imprinting–Defusing the ovarian time bomb Trends Genet. 10 1994 118 123
164. Vu T.H. Hoffman A.R. Promoter-specific imprinting of the human insulin-like growth factor-II gene Nature 371 1994 714 717
165. Walther T. Balschun D. Voigt J.P. Fink H. Zuschratter W. Birchmeier C. Ganten D. Bader M. Sustained long term potentiation and anxiety in mice lacking the Mas protooncogene J. Biol. Chem. 273 1998 11867 11873
166. Walsh C.P. Chaillet J.R. Bestor T.H. transcription of IAP endogenous retroviruses is constrained by cytosine methylation Nature Genet. 20 1998 116 117
167. Wang Z.Q. Fung M.R. Barlow D.P. Wagner E.F. Regulation of embryonic growth and lysosomal targeting by the imprinted Igf2/Mpr gene Nature 372 1994 464 467
168. Watanabe T. Yoshimura A. Mishima Y. Endo Y. Shiroishi T. Koide T. Sasaki H. Asakura H. Kominami R. Differential chromatin packaging of genomic imprinted regions between expressed and non-expressed alleles Hum. Mol. Genet. 9 2000 3029 3035
169. Wevrick R. Francke U. An imprinted mouse transcript homologous to the human imprinted in Prader-Willi syndrome (IPW) gene Hum. Mol. Genet. 6 1997 325 332
170. Wilcox A.J. Russell I.T. Birthweight and perinatal mortality: II. On weight-specific mortality Int. J. Epidemiol. 12 1983 319 325
171. Wolffe A.P. Guschin D. Review: Chromatin structural features and targets that regulate transcription J. Struct. Biol. 129 2000 102 122
172. Wroe S.F. Kelsey G. Skinner J.A. Bodle D. Ball S.T. Beechey C.V. Peters J. Williamson C.M. An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus Proc. Natl. Acad. Sci. USA 97 2000 3342 3346
173. Wutz A. Jaenisch R. A shift from reversible to irreversible X inactivation is triggered during ES cell differentiation Mol. Cell 5 2000 695 705
174. Wutz A. Smrzka O.W. Schweifer N. Schellander K. Wagner E.F. Barlow D.P. Imprinted expression of the Igf2r gene depends on an intronic CpG island Nature 389 1997 745 749
175. Wutz A. Theussl H.C. Daussman J. Jaenisch R. Barlow D.P. Wagner E.F. Non-imprinted Igf2r expression decreases growth and rescues the Tme mutation in mice Development 128 2001 1881 1887
176. Xu C. Mao D. Holers V.M. Palanca B. Cheng A.M. Molina H. A critical role for murine complement regulator Crry in fetomaternal tolerance Science 287 2000 498 501
177. Xu Y. Goodyer C.G. Deal C. Polychronakos C. Functional polymorphism in the parental imprinting of the human IGF2R gene Biochem. Biophys. Res. Commun. 197 1993 747 754
178. Yan Y. Frisen J. Lee M.H. Massague J. Barbacid M. Ablation of the CDK inhibitor p57Kip2 results in increased apoptosis and delayed differentiation during mouse development Genes Dev. 11 1997 973 983
179. Yu S. Gavrilova O. Chen H. Lee R. Liu J. Pacak K. Parlow A.F. Quon M.J. Reitman M.L. Weinstein L.S. Paternal versus maternal transmission of a stimulatory G-protein alpha subunit knockout produces opposite effects on energy metabolism J. Clin. Invest. 105 2000 615 623
180. Zhang P. Liegeois N.J. Wong C. Finegold M. Hou H. Thompson J.C. Silverman A. Harper J.W. DePinho R.A. Elledge S.J. Altered cell differentiation and proliferation in mice lacking CDKN1 indicates a role in Beckwith-Wiedemann syndrome Nature 387 1997 151 158
181. Claverie J.-M. What if there are only 30,000 hman genes? Science 16 2000 1255 1256
182. Cuellar O. Animal parthenogenesis Science 197 1997 837 843
183. Lerchner W. Barlow D.P. Paternal repression of the imprinted mouse M6P-Igf2r locus occurs during implantation and is stable in all tissues of the post-implantation mouse embryo Mech. Dev. 61 1997 141 149
184. Ng H.H. Bird A. DNA methylation and chromatin modification Curr. Opin. Genet. Dev. 9 1999 158 163
185. Rougeulle C. Cardoso C. Fontes M. Colleaux L. Lalande M. An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript Nature Genet. 19 1998 15 66
186. Tanaka M. Puchyr M. Gertsenstein M. Harpal K. Jaenisch R. Rossant J. Nagy A. Parental origin-specific expression of Mash2 is established at the time of implantation with its imprinting mechanism highly resistant to genome-wide demethylation Mech. Dev. 87 1999 129 142
187. Yang T. Adamson T.E. Resnick J.L. Leff S. Wevrick R. Francke U. Jenkins N.A. Copeland N.G. Brannan C.I. A mouse model for Prader-Willi syndrome imprinting-centre mutations Nature Genet. 19 1998 25 31