The role of imprinted genes in humans

Molecular Aspects of Medicine

Volumn 34, Issue 4, 2013, Pages 826-840

  Ishida, Miho ^a   Moore, Gudrun E ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Epigenetics; Fetal growth; Genomic imprinting; Imprinting disorders; Methylation; Placenta

Indexed keywords

BECKWITH WIEDEMANN SYNDROME; EMBRYO DEVELOPMENT; EPIGENETICS; FETUS GROWTH; GENE DISRUPTION; GENE EXPRESSION REGULATION; GENE FUNCTION; GENE SILENCING; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC MARKER; GENOME IMPRINTING; GERM LINE; GROWTH REGULATION; HAPPY PUPPET SYNDROME; HUMAN; INFERTILITY THERAPY; INTRAUTERINE GROWTH RETARDATION; MATERNAL UPD14 SYNDROME; NONHUMAN; PATERNAL UPD14 SYNDROME; PRADER WILLI SYNDROME; PSEUDOHYPOPARATHYROIDISM TYPE IB; REVIEW; SILVER RUSSELL SYNDROME; TRANSIENT NEONATAL DIABETES MELLITUS TYPE 1;

ANGELMAN SYNDROME; ANIMALS; BECKWITH-WIEDEMANN SYNDROME; FETAL DEVELOPMENT; FETAL GROWTH RETARDATION; GENES; GENOMIC IMPRINTING; HUMANS; PRADER-WILLI SYNDROME; REPRODUCTIVE TECHNIQUES, ASSISTED; SILVER-RUSSELL SYNDROME;

EUTHERIA;

EID: 84878107771     PISSN: 00982997     EISSN: 18729452     Source Type: Journal    
DOI: 10.1016/j.mam.2012.06.009     Document Type: Review

References (146)

1. S. Abu-Amero, D. Monk, J. Frost, M. Preece, P. Stanier, and G.E. Moore The genetic aetiology of Silver-Russell syndrome J. Med. Genet. 45 2008 193 199
2. S. Abu-Amero, E.L. Wakeling, M. Preece, J. Whittaker, P. Stanier, and G.E. Moore Epigenetic signatures of Silver-Russell syndrome J. Med. Genet. 47 2010 150 154
3. S.N. Abu-Amero, Z. Ali, P. Bennett, J.I. Vaughan, and G.E. Moore Expression of the insulin-like growth factors and their receptors in term placentas: a comparison between normal and IUGR births Mol. Reprod. Dev. 49 1998 229 235
4. R.M. Adkins, G. Somes, J.C. Morrison, J.B. Hill, E.M. Watson, E.F. Magann, and J. Krushkal Association of birth weight with polymorphisms in the IGF2, H19, and IGF2R genes Pediatr. Res. 68 2010 429 434
5. D.J. Amor, and J. Halliday A review of known imprinting syndromes and their association with assisted reproduction technologies Hum. Reprod. 23 2008 2826 2834
6. E.A. Andersson, K. Pilgaard, C. Pisinger, M.N. Harder, N. Grarup, K. Faerch, P. Poulsen, D.R. Witte, T. Jorgensen, A. Vaag, T. Hansen, and O. Pedersen Type 2 diabetes risk alleles near ADCY5, CDKAL1 and HHEX-IDE are associated with reduced birthweight Diabetologia 53 2010 1908 1916
7. S. Apostolidou, S. Abu-Amero, K. O'Donoghue, J. Frost, O. Olafsdottir, K.M. Chavele, J.C. Whittaker, P. Loughna, P. Stanier, and G.E. Moore Elevated placental expression of the imprinted PHLDA2 gene is associated with low birth weight J. Mol. Med. (Berlin) 85 2007 379 387
8. S. Azzi, S. Rossignol, V. Steunou, T. Sas, N. Thibaud, F. Danton, J.M. Le, C. Heinrichs, S. Cabrol, C. Gicquel, B.Y. Le, and I. Netchine Multilocus methylation analysis in a large cohort of 11p15-related fetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci Hum. Mol. Genet. 18 2009 4724 4733
9. T. Babak, B. Deveale, C. Armour, C. Raymond, M.A. Cleary, D. van der Kooy, J.M. Johnson, and L.P. Lim Global survey of genomic imprinting by transcriptome sequencing Curr. Biol. 18 2008 1735 1741
10. D.P. Barlow Gametic imprinting in mammals Science 270 1995 1610 1613
11. D.P. Barlow, R. Stoger, B.G. Herrmann, K. Saito, and N. Schweifer The mouse insulin-like growth factor type-2 receptor is imprinted and closely linked to the Tme locus Nature 349 1991 84 87
12. M. Bastepe, L.F. Frohlich, G.N. Hendy, O.S. Indridason, R.G. Josse, H. Koshiyama, J. Korkko, J.M. Nakamoto, A.L. Rosenbloom, A.H. Slyper, T. Sugimoto, A. Tsatsoulis, J.D. Crawford, and H. Juppner Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS J. Clin. Invest. 112 2003 1255 1263
13. M. Bastepe, L.F. Frohlich, A. Linglart, H.S. Abu-Zahra, K. Tojo, L.M. Ward, and H. Juppner Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib Nat. Genet. 37 2005 25 27
14. M. Bastepe, A.H. Lane, and H. Juppner Paternal uniparental isodisomy of chromosome 20q-and the resulting changes in GNAS1 methylation-as a plausible cause of pseudohypoparathyroidism Am. J. Hum. Genet. 68 2001 1283 1289
15. M. Begemann, S. Spengler, D. Kanber, A. Haake, M. Baudis, I. Leisten, G. Binder, S. Markus, T. Rupprecht, H. Segerer, S. Fricke-Otto, R. Muhlenberg, R. Siebert, K. Buiting, and T. Eggermann Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues Clin. Genet. 80 2011 83 88
16. A.J. Bennett, U. Sovio, A. Ruokonen, H. Martikainen, A. Pouta, S. Taponen, A.L. Hartikainen, V.J. King, P. Elliott, M.R. Jarvelin, and M.I. McCarthy Variation at the insulin gene VNTR (variable number tandem repeat) polymorphism and early growth: studies in a large Finnish birth cohort Diabetes 53 2004 2126 2131
17. G. Binder, A.K. Seidel, K. Weber, M. Haase, H.A. Wollmann, M.B. Ranke, and T. Eggermann IGF-II serum levels are normal in children with Silver-Russell syndrome who frequently carry epimutations at the IGF2 locus J. Clin. Endocrinol. Metab. 91 2006 4709 4712
18. J. Bliek, G. Verde, J. Callaway, S.M. Maas, C.A. De, A. Sparago, F. Cerrato, S. Russo, S. Ferraiuolo, M.M. Rinaldi, R. Fischetto, F. Lalatta, L. Giordano, P. Ferrari, M.V. Cubellis, L. Larizza, I.K. Temple, M.M. Mannens, D.J. Mackay, and A. Riccio Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome Eur. J. Hum. Genet. 17 2009 611 619
19. M.J. Booth, M.R. Branco, G. Ficz, D. Oxley, F. Krueger, W. Reik, and S. Balasubramanian Quantitative sequencing of 5-methylcytosine and 5-hydroxymethylcytosine at single-base resolution Science 336 2012 934 937
20. D. Bourc'his, and T.H. Bestor Meiotic catastrophe and retrotransposon reactivation in male germ cells lacking Dnmt3L Nature 431 2004 96 99
21. M.R. Branco, G. Ficz, and W. Reik Uncovering the role of 5-hydroxymethylcytosine in the epigenome Nat. Rev. Genet. 13 2012 7 13
22. D. Brodsky, and H. Christou Current concepts in intrauterine growth restriction J. Intensive Care Med. 19 2004 307 319
23. K. Buiting Prader-Willi syndrome and Angelman syndrome Am. J. Med. Genet. C Semin. Med. Genet. 154C 2010 365 376
24. K. Buiting, B. Dittrich, W.P. Robinson, M. Guitart, D. Abeliovich, I. Lerer, and B. Horsthemke Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications Hum. Mol. Genet. 3 1994 893 895
25. S.B. Cassidy, and D.J. Driscoll Prader-Willi syndrome Eur. J. Hum. Genet. 17 2009 3 13
26. D. Catchpoole, W.W. Lam, D. Valler, I.K. Temple, J.A. Joyce, W. Reik, P.N. Schofield, and E.R. Maher Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome J. Med. Genet. 34 1997 353 359
27. B.M. Cattanach, and M. Kirk Differential activity of maternally and paternally derived chromosome regions in mice Nature 315 1985 496 498
28. M. Charalambous, F.M. Smith, W.R. Bennett, T.E. Crew, F. Mackenzie, and A. Ward Disruption of the imprinted Grb10 gene leads to disproportionate overgrowth by an Igf2-independent mechanism Proc. Nat. Acad. Sci. U.S.A. 100 2003 8292 8297
29. S. Chillambhi, S. Turan, D.Y. Hwang, H.C. Chen, H. Juppner, and M. Bastepe Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis J. Clin. Endocrinol. Metab. 95 2010 3993 4002
30. M. Chotalia, S.A. Smallwood, N. Ruf, C. Dawson, D. Lucifero, M. Frontera, K. James, W. Dean, and G. Kelsey Transcription is required for establishment of germline methylation marks at imprinted genes Gene Dev. 23 2009 105 117
31. S. Choufani, C. Shuman, and R. Weksberg Beckwith-Wiedemann syndrome Am. J. Med. Genet. C Semin. Med. Genet. 154C 2010 343 354
32. A.J. de Smith, C. Purmann, R.G. Walters, R.J. Ellis, S.E. Holder, M.M. Van Haelst, A.F. Brady, U.L. Fairbrother, M. Dattani, J.M. Keogh, E. Henning, G.S. Yeo, S. O'Rahilly, P. Froguel, I.S. Farooqi, and A.I. Blakemore A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism Hum. Mol. Genet. 18 2009 3257 3265
33. W. Dean, and A. Ferguson-Smith Genomic imprinting: mother maintains methylation marks Curr. Biol. 11 2001 R527 R530
34. W. Dean, F. Santos, and W. Reik Epigenetic reprogramming in early mammalian development and following somatic nuclear transfer Semin. Cell Dev. Biol. 14 2003 93 100
35. W. Dean, F. Santos, M. Stojkovic, V. Zakhartchenko, J. Walter, E. Wolf, and W. Reik Conservation of methylation reprogramming in mammalian development: aberrant reprogramming in cloned embryos Proc. Natl. Acad. Sci. USA 98 2001 13734 13738
36. B. Deveale, D. van der Kooy, and T. Babak Critical evaluation of imprinted gene expression by RNA-Seq: a new perspective PLoS Genet. 8 2012 e1002600
37. F. Ding, H.H. Li, S. Zhang, N.M. Solomon, S.A. Camper, P. Cohen, and U. Francke SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice PLoS One 3 2008 e1709
38. A.I. Diplas, L. Lambertini, M.J. Lee, R. Sperling, Y.L. Lee, J. Wetmur, and J. Chen Differential expression of imprinted genes in normal and IUGR human placentas Epigenetics 4 2009 235 240
39. A.S. Doherty, M.R. Mann, K.D. Tremblay, M.S. Bartolomei, and R.M. Schultz Differential effects of culture on imprinted H19 expression in the preimplantation mouse embryo Biol. Reprod. 62 2000 1526 1535
40. M.E. Doornbos, S.M. Maas, J. McDonnell, J.P. Vermeiden, and R.C. Hennekam Infertility, assisted reproduction technologies and imprinting disturbances: a Dutch study Hum. Reprod. 22 2007 2476 2480
41. D.B. Dunger, K.K. Ong, S.J. Huxtable, A. Sherriff, K.A. Woods, M.L. Ahmed, J. Golding, M.E. Pembrey, S. Ring, S.T. Bennett, and J.A. Todd Association of the INS VNTR with size at birth. ALSPAC Study Team. Avon longitudinal study of pregnancy and childhood Nat. Genet. 19 1998 98 100
42. W. Engstrom, S. Lindham, and P. Schofield Wiedemann-Beckwith syndrome Eur. J. Pediatr. 147 1988 450 457
43. A. Eroglu, and L.C. Layman Role of ART in imprinting disorders Semin. Reprod. Med. 30 2012 92 104
44. P. Fauque, P. Jouannet, C. Lesaffre, M.A. Ripoche, L. Dandolo, D. Vaiman, and H. Jammes Assisted reproductive technology affects developmental kinetics, H19 imprinting control region methylation and H19 gene expression in individual mouse embryos BMC Dev. Biol. 7 2007 116
45. G.V. Fitzpatrick, P.D. Soloway, and M.J. Higgins Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1 Nat. Genet. 32 2002 426 431
46. T.M. Frayling, A.T. Hattersley, A. McCarthy, J. Holly, S.M. Mitchell, A.L. Gloyn, K. Owen, D. Davies, G.D. Smith, and Y. Ben-Shlomo A putative functional polymorphism in the IGF-I gene: association studies with type 2 diabetes, adult height, glucose tolerance, and fetal growth in UK populations Diabetes 51 2002 2313 2316
47. R.M. Freathy, D.O. Mook-Kanamori, U. Sovio, I. Prokopenko, N.J. Timpson, D.J. Berry, N.M. Warrington, E. Widen, J.J. Hottenga, M. Kaakinen, L.A. Lange, J.P. Bradfield, M. Kerkhof, J.A. Marsh, R. Magi, C.M. Chen, H.N. Lyon, M. Kirin, L.S. Adair, Y.S. Aulchenko, A.J. Bennett, J.B. Borja, N. Bouatia-Naji, P. Charoen, L.J. Coin, D.L. Cousminer, E.J. de Geus, P. Deloukas, P. Elliott, D.M. Evans, P. Froguel, B. Glaser, C.J. Groves, A.L. Hartikainen, N. Hassanali, J.N. Hirschhorn, A. Hofman, J.M. Holly, E. Hypponen, S. Kanoni, B.A. Knight, J. Laitinen, C.M. Lindgren, W.L. McArdle, P.F. O'Reilly, C.E. Pennell, D.S. Postma, A. Pouta, A. Ramasamy, N.W. Rayner, S.M. Ring, F. Rivadeneira, B.M. Shields, D.P. Strachan, I. Surakka, A. Taanila, C. Tiesler, A.G. Uitterlinden, C.M. van Duijn, A.H. Wijga, G. Willemsen, H. Zhang, J. Zhao, J.F. Wilson, E.A. Steegers, A.T. Hattersley, J.G. Eriksson, L. Peltonen, K.L. Mohlke, S.F. Grant, H. Hakonarson, G.H. Koppelman, G.V. Dedoussis, J. Heinrich, M.W. Gillman, L.J. Palmer, T.M. Frayling, D.I. Boomsma, S.G. Davey, C. Power, V.W. Jaddoe, M.R. Jarvelin, and M.I. McCarthy Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight Nat. Genet. 42 2010 430 435
48. J.M. Frost, and G.E. Moore The importance of imprinting in the human placenta PLoS Genet. 6 2010 e1001015
49. C. Gicquel, S. Rossignol, S. Cabrol, M. Houang, V. Steunou, V. Barbu, F. Danton, N. Thibaud, M.M. Le, L. Burglen, A.M. Bertrand, I. Netchine, and B.Y. Le Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome Nat. Genet. 37 2005 1003 1007
50. C.C. Glenn, R.D. Nicholls, W.P. Robinson, S. Saitoh, N. Niikawa, A. Schinzel, B. Horsthemke, and D.J. Driscoll Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients Hum. Mol. Genet. 2 1993 1377 1382
51. M.V. Gomes, M.R. Soares, A. Pasqualim-Neto, C.R. Marcondes, R.B. Lobo, and E.S. Ramos Association between birth weight, body mass index and IGF2/ApaI polymorphism Growth Horm. IGF Res. 15 2005 360 362
52. C. Gregg, J. Zhang, J.E. Butler, D. Haig, and C. Dulac Sex-specific parent-of-origin allelic expression in the mouse brain Science 329 2010 682 685
53. C. Gregg, J. Zhang, B. Weissbourd, S. Luo, G.P. Schroth, D. Haig, and C. Dulac High-resolution analysis of parent-of-origin allelic expression in the mouse brain Science 329 2010 643 648
54. K.E. Habib, K.P. Weld, K.C. Rice, J. Pushkas, M. Champoux, S. Listwak, E.L. Webster, A.J. Atkinson, J. Schulkin, C. Contoreggi, G.P. Chrousos, S.M. McCann, S.J. Suomi, J.D. Higley, and P.W. Gold Oral administration of a corticotropin-releasing hormone receptor antagonist significantly attenuates behavioral, neuroendocrine, and autonomic responses to stress in primates Proc. Natl. Acad. Sci. USA 97 2000 6079 6084
55. P. Hajkova, K. Ancelin, T. Waldmann, N. Lacoste, U.C. Lange, F. Cesari, C. Lee, G. Almouzni, R. Schneider, and M.A. Surani Chromatin dynamics during epigenetic reprogramming in the mouse germ line Nature 452 2008 877 881
56. K. Hata, M. Okano, H. Lei, and E. Li Dnmt3L cooperates with the Dnmt3 family of de novo DNA methyltransferases to establish maternal imprints in mice Development 129 2002 1983 1993
57. B. Heude, K.K. Ong, R. Luben, N.J. Wareham, and M.S. Sandhu Study of association between common variation in the insulin-like growth factor 2 gene and indices of obesity and body size in middle-aged men and women J. Clin. Endocrinol. Metab. 92 2007 2734 2738
58. R. Hirasawa, H. Chiba, M. Kaneda, S. Tajima, E. Li, R. Jaenisch, and H. Sasaki Maternal and zygotic Dnmt1 are necessary and sufficient for the maintenance of DNA methylation imprints during preimplantation development Gene Dev. 22 2008 1607 1616
59. H. Hiura, Y. Obata, J. Komiyama, M. Shirai, and T. Kono Oocyte growth-dependent progression of maternal imprinting in mice Genes Cells 11 2006 353 361
60. T.A. Hore, R.W. Rapkins, and J.A. Graves Construction and evolution of imprinted loci in mammals Trends Genet. 23 2007 440 448
61. B. Horsthemke, and J. Wagstaff Mechanisms of imprinting of the Prader-Willi/Angelman region Am. J. Med. Genet. A 146A 2008 2041 2052
62. C.Y. Howell, T.H. Bestor, F. Ding, K.E. Latham, C. Mertineit, J.M. Trasler, and J.R. Chaillet Genomic imprinting disrupted by a maternal effect mutation in the Dnmt1 gene Cell 104 2001 829 838
63. M. Ishida, D. Monk, A.J. Duncan, S. Abu-Amero, J. Chong, S.M. Ring, M.E. Pembrey, P.C. Hindmarsh, J.C. Whittaker, P. Stanier, and G.E. Moore Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight Am. J. Hum. Genet. 90 2012 715 719
64. D. Jia, R.Z. Jurkowska, X. Zhang, A. Jeltsch, and X. Cheng Structure of Dnmt3a bound to Dnmt3L suggests a model for de novo DNA methylation Nature 449 2007 248 251
65. M. Kagami, M.J. O'Sullivan, A.J. Green, Y. Watabe, O. Arisaka, N. Masawa, K. Matsuoka, M. Fukami, K. Matsubara, F. Kato, A.C. Ferguson-Smith, and T. Ogata The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers PLoS Genet. 6 2010 e1000992
66. M. Kagami, Y. Sekita, G. Nishimura, M. Irie, F. Kato, M. Okada, S. Yamamori, H. Kishimoto, M. Nakayama, Y. Tanaka, K. Matsuoka, T. Takahashi, M. Noguchi, Y. Tanaka, K. Masumoto, T. Utsunomiya, H. Kouzan, Y. Komatsu, H. Ohashi, K. Kurosawa, K. Kosaki, A.C. Ferguson-Smith, F. Ishino, and T. Ogata Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes Nat. Genet. 40 2008 237 242
67. K. Kaku, H. Osada, K. Seki, and S. Sekiya Insulin-like growth factor 2 (IGF2) and IGF2 receptor gene variants are associated with fetal growth Acta Paediatr. 96 2007 363 367
68. M. Kamiya, H. Judson, Y. Okazaki, M. Kusakabe, M. Muramatsu, S. Takada, N. Takagi, T. Arima, N. Wake, K. Kamimura, K. Satomura, R. Hermann, D.T. Bonthron, and Y. Hayashizaki The cell cycle control gene ZAC/PLAGL1 is imprinted-a strong candidate gene for transient neonatal diabetes Hum. Mol. Genet. 9 2000 453 460
69. M. Kaneda, M. Okano, K. Hata, T. Sado, N. Tsujimoto, E. Li, and H. Sasaki Essential role for de novo DNA methyltransferase Dnmt3a in paternal and maternal imprinting Nature 429 2004 900 903
70. K. Kannenberg, C. Urban, and G. Binder Increased incidence of aberrant DNA methylation within diverse imprinted gene loci outside of IGF2/H19 in Silver-Russell syndrome Clin. Genet. 81 2012 366 377
71. J.D. Kim, K. Kang, and J. Kim YY1's role in DNA methylation of Peg3 and Xist Nucleic Acids Res. 37 2009 5656 5664
72. H. Kobayashi, A. Sato, E. Otsu, H. Hiura, C. Tomatsu, T. Utsunomiya, H. Sasaki, N. Yaegashi, and T. Arima Aberrant DNA methylation of imprinted loci in sperm from oligospermic patients Hum. Mol. Genet. 16 2007 2542 2551
73. A. Kong, V. Steinthorsdottir, G. Masson, G. Thorleifsson, P. Sulem, S. Besenbacher, A. Jonasdottir, A. Sigurdsson, K.T. Kristinsson, A. Jonasdottir, M.L. Frigge, A. Gylfason, P.I. Olason, S.A. Gudjonsson, S. Sverrisson, S.N. Stacey, B. Sigurgeirsson, K.R. Benediktsdottir, H. Sigurdsson, T. Jonsson, R. Benediktsson, J.H. Olafsson, O.T. Johannsson, A.B. Hreidarsson, G. Sigurdsson, A.C. Ferguson-Smith, D.F. Gudbjartsson, U. Thorsteinsdottir, and K. Stefansson Parental origin of sequence variants associated with complex diseases Nature 462 2009 868 874
74. D. Kotzot Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting Ann. Genet. 47 2004 251 260
75. A. Kukuvitis, I. Georgiou, M. Syrrou, S. Andronikou, Z. Dickerman, A. Islam, J. McCann, and C. Polychronakos Lack of association of birth size with polymorphisms of two imprinted genes, IGF2R and GRB10 J. Pediatr. Endocrinol. Metab. 17 2004 1215 1220
76. N. Kumar, J. Leverence, D. Bick, and V. Sampath Ontogeny of growth-regulating genes in the placenta Placenta 33 2012 94 99
77. M.M. Lau, C.E. Stewart, Z. Liu, H. Bhatt, P. Rotwein, and C.L. Stewart Loss of the imprinted IGF2/cation-independent mannose 6-phosphate receptor results in fetal overgrowth and perinatal lethality Gene Dev. 8 1994 2953 2963
78. L. Lefebvre, S. Viville, S.C. Barton, F. Ishino, E.B. Keverne, and M.A. Surani Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest Nat. Genet. 20 1998 163 169
79. P.A. Leighton, R.S. Ingram, J. Eggenschwiler, A. Efstratiadis, and S.M. Tilghman Disruption of imprinting caused by deletion of the H19 gene region in mice Nature 375 1995 34 39
80. A. Lewis, and W. Reik How imprinting centres work Cytogenet. Genome Res. 113 2006 81 89
81. L. Li, E.B. Keverne, S.A. Aparicio, F. Ishino, S.C. Barton, and M.A. Surani Regulation of maternal behavior and offspring growth by paternally expressed Peg3 Science 284 1999 330 333
82. X. Li, M. Ito, F. Zhou, N. Youngson, X. Zuo, P. Leder, and A.C. Ferguson-Smith A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints Dev. Cell 15 2008 547 557
83. S.P. Lin, N. Youngson, S. Takada, H. Seitz, W. Reik, M. Paulsen, J. Cavaille, and A.C. Ferguson-Smith Asymmetric regulation of imprinting on the maternal and paternal chromosomes at the Dlk1-Gtl2 imprinted cluster on mouse chromosome 12 Nat. Genet. 35 2003 97 102
84. R.S. Lindsay, S. Kobes, W.C. Knowler, and R.L. Hanson Genome-wide linkage analysis assessing parent-of-origin effects in the inheritance of birth weight Hum. Genet. 110 2002 503 509
85. A. Linglart, R.C. Gensure, R.C. Olney, H. Juppner, and M. Bastepe A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS Am. J. Hum. Genet. 76 2005 804 814
86. J. Liu, J.G. Nealon, and L.S. Weinstein Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB Hum. Mol. Genet. 14 2005 95 102
87. D. Lucifero, M.R. Mann, M.S. Bartolomei, and J.M. Trasler Gene-specific timing and epigenetic memory in oocyte imprinting Hum. Mol. Genet. 13 2004 839 849
88. D.J. Mackay, J.L. Callaway, S.M. Marks, H.E. White, C.L. Acerini, S.E. Boonen, P. Dayanikli, H.V. Firth, J.A. Goodship, A.P. Haemers, J.M. Hahnemann, O. Kordonouri, A.F. Masoud, E. Oestergaard, J. Storr, S. Ellard, A.T. Hattersley, D.O. Robinson, and I.K. Temple Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57 Nat. Genet. 40 2008 949 951
89. D.J. Mackay, A.M. Coupe, J.P. Shield, J.N. Storr, I.K. Temple, and D.O. Robinson Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus Hum. Genet. 110 2002 139 144
90. D.J. Mackay, and I.K. Temple Transient neonatal diabetes mellitus type 1 Am. J. Med. Genet. C Semin. Med. Genet. 154C 2010 335 342
91. D. Macleod, V.H. Clark, and A. Bird Absence of genome-wide changes in DNA methylation during development of the zebrafish Nat. Genet. 23 1999 139 140
92. G. Mantovani Clinical review: pseudohypoparathyroidism: diagnosis and treatment J. Clin. Endocrinol. Metab. 96 2011 3020 3030
93. B.A. Market-Velker, L. Zhang, L.S. Magri, A.C. Bonvissuto, and M.R. Mann Dual effects of superovulation: loss of maternal and paternal imprinted methylation in a dose-dependent manner Hum. Mol. Genet. 19 2010 36 51
94. C.J. Marques, P. Costa, B. Vaz, F. Carvalho, S. Fernandes, A. Barros, and M. Sousa Abnormal methylation of imprinted genes in human sperm is associated with oligozoospermia Mol. Hum. Reprod. 14 2008 67 74
95. C. McCarthy, F.E. Cotter, S. McElwaine, A. Twomey, E.E. Mooney, F. Ryan, and J. Vaughan Altered gene expression patterns in intrauterine growth restriction: potential role of hypoxia Am. J. Obstet. Gynecol. 196 2007 70 76
96. K.R. McEwen, and A.C. Ferguson-Smith Distinguishing epigenetic marks of developmental and imprinting regulation Epigenetics Chromatin 3 2010 2
97. J. McGrath, and D. Solter Completion of mouse embryogenesis requires both the maternal and paternal genomes Cell 37 1984 179 183
98. J. McMinn, M. Wei, N. Schupf, J. Cusmai, E.B. Johnson, A.C. Smith, R. Weksberg, H.M. Thaker, and B. Tycko Unbalanced placental expression of imprinted genes in human intrauterine growth restriction Placenta 27 2006 540 549
99. S. Mergenthaler, M.P. Hitchins, N. Blagitko-Dorfs, D. Monk, H.A. Wollmann, M.B. Ranke, H.H. Ropers, S. Apostolidou, P. Stanier, M.A. Preece, T. Eggermann, V.M. Kalscheuer, and G.E. Moore Conflicting reports of imprinting status of human GRB10 in developing brain: how reliable are somatic cell hybrids for predicting allelic origin of expression? Am. J. Hum. Genet. 68 2001 543 545
100. E. Meyer, D. Lim, S. Pasha, L.J. Tee, F. Rahman, J.R. Yates, C.G. Woods, W. Reik, and E.R. Maher Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome) PLoS Genet. 5 2009 e1000423
101. S.M. Mitchell, A.T. Hattersley, B. Knight, T. Turner, B.S. Metcalf, L.D. Voss, D. Davies, A. McCarthy, T.J. Wilkin, G.D. Smith, Y. Ben-Shlomo, and T.M. Frayling Lack of support for a role of the insulin gene variable number of tandem repeats minisatellite (INS-VNTR) locus in fetal growth or type 2 diabetes-related intermediate traits in United Kingdom populations J. Clin. Endocrinol. Metab. 89 2004 310 317
102. D. Monk, P. Arnaud, S. Apostolidou, F.A. Hills, G. Kelsey, P. Stanier, R. Feil, and G.E. Moore Limited evolutionary conservation of imprinting in the human placenta Proc. Natl. Acad. Sci. USA 103 2006 6623 6628
103. D.O. Mook-Kanamori, J.A. Marsh, N.M. Warrington, H.R. Taal, J.P. Newnham, L.J. Beilin, S.J. Lye, L.J. Palmer, A. Hofman, E.A. Steegers, C.E. Pennell, and V.W. Jaddoe Variants near CCNL1/LEKR1 and in ADCY5 and fetal growth characteristics in different trimesters J. Clin. Endocrinol. Metab. 96 2011 E810 E815
104. T. Moore, and D. Haig Genomic imprinting in mammalian development: a parental tug-of-war Trends Genet. 7 1991 45 49
105. S.K. Murphy, A.A. Wylie, K.J. Coveler, P.D. Cotter, P.R. Papenhausen, V.R. Sutton, L.G. Shaffer, and R.L. Jirtle Epigenetic detection of human chromosome 14 uniparental disomy Hum. Mutat. 22 2003 92 97
106. T. Nakamura, Y. Arai, H. Umehara, M. Masuhara, T. Kimura, H. Taniguchi, T. Sekimoto, M. Ikawa, Y. Yoneda, M. Okabe, S. Tanaka, K. Shiota, and T. Nakano PGC7/Stella protects against DNA demethylation in early embryogenesis Nat. Cell Biol. 9 2007 64 71
107. B. Neumann, P. Kubicka, and D.P. Barlow Characteristics of imprinted genes Nat. Genet. 9 1995 12 13
108. M. Okano, D.W. Bell, D.A. Haber, and E. Li DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development Cell 99 1999 247 257
109. S.K. Ooi, C. Qiu, E. Bernstein, K. Li, D. Jia, Z. Yang, H. Erdjument-Bromage, P. Tempst, S.P. Lin, C.D. Allis, X. Cheng, and T.H. Bestor DNMT3L connects unmethylated lysine 4 of histone H3 to de novo methylation of DNA Nature 448 2007 714 717
110. J. Peters, and J.E. Robson Imprinted noncoding RNAs Mamm. Genome 19 2008 493 502
111. C.J. Petry, K.K. Ong, B.J. Barratt, D. Wingate, H.J. Cordell, S.M. Ring, M.E. Pembrey, W. Reik, J.A. Todd, and D.B. Dunger Common polymorphism in H19 associated with birthweight and cord blood IGF-II levels in humans BMC Genet. 6 2005 22
112. C.J. Petry, R.V. Seear, D.L. Wingate, C.L. Acerini, K.K. Ong, I.A. Hughes, and D.B. Dunger Maternally transmitted fetal H19 variants and associations with birth weight Hum. Genet. 130 2011 663 670
113. J.A. Piedrahita The role of imprinted genes in fetal growth abnormalities Birth Defects Res. A Clin. Mol. Teratol. 91 2011 682 692
114. R.N. Pollack, and M.Y. Divon Intrauterine growth retardation: definition, classification, and etiology Clin. Obstet. Gynecol. 35 1992 99 107
115. S. Pradhan, A. Bacolla, R.D. Wells, and R.J. Roberts Recombinant human DNA (cytosine-5) methyltransferase. I. Expression, purification, and comparison of de novo and maintenance methylation J. Biol. Chem. 274 1999 33002 33010
116. W. Reik, W. Dean, and J. Walter Epigenetic reprogramming in mammalian development Science 293 2001 1089 1093
117. W. Reik, and J. Walter Genomic imprinting: parental influence on the genome Nat. Rev. Genet. 2 2001 21 32
118. A. Reis, B. Dittrich, V. Greger, K. Buiting, M. Lalande, G. Gillessen-Kaesbach, M. Anvret, and B. Horsthemke Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes Am. J. Hum. Genet. 54 1994 741 747
119. N. Richard, G. Abeguile, N. Coudray, H. Mittre, N. Gruchy, J. Andrieux, P. Cathebras, and M.L. Kottler A New Deletion Ablating NESP55 Causes Loss of Maternal Imprint of A/B GNAS and Autosomal Dominant Pseudohypoparathyroidism Type Ib J. Clin. Endocrinol. Metab. 97 2012 E863 E867
120. A.L. Rosa, Y.Q. Wu, B. Kwabi-Addo, K.J. Coveler, S.V. Reid, and L.G. Shaffer Allele-specific methylation of a functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32 Chromosome Res. 13 2005 809 818
121. S. Rossignol, V. Steunou, C. Chalas, A. Kerjean, M. Rigolet, E. Viegas-Pequignot, P. Jouannet, B.Y. Le, and C. Gicquel The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region J. Med. Genet. 43 2006 902 907
122. T. Sahoo, G.D. del, J.R. German, M. Shinawi, S.U. Peters, R.E. Person, A. Garnica, S.W. Cheung, and A.L. Beaudet Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster Nat. Genet. 40 2008 719 721
123. A. Sato, E. Otsu, H. Negishi, T. Utsunomiya, and T. Arima Aberrant DNA methylation of imprinted loci in superovulated oocytes Hum. Reprod. 22 2007 26 35
124. C.D. Scott, and J. Weiss Soluble insulin-like growth factor II/mannose 6-phosphate receptor inhibits DNA synthesis in insulin-like growth factor II sensitive cells J. Cell. Physiol. 182 2000 62 68
125. R.J. Scott, and M. Spielman Genomic imprinting in plants and mammals: how life history constrains convergence Cytogenet. Genome Res. 113 2006 53 67
126. A.G. Searle, and C.V. Beechey Genome imprinting phenomena on mouse chromosome 7 Genet. Res. 56 1990 237 244
127. H. Shiura, K. Nakamura, T. Hikichi, T. Hino, K. Oda, R. Suzuki-Migishima, T. Kohda, T. Kaneko-Ishino, and F. Ishino Paternal deletion of Meg1/Grb10 DMR causes maternalization of the Meg1/Grb10 cluster in mouse proximal Chromosome 11 leading to severe pre- and postnatal growth retardation Hum. Mol. Genet. 18 2009 1424 1438
128. R.A. Simmons Developmental origins of adult disease Pediatr. Clin. North Am. 56 2009 449 466
129. B.V. Skryabin, L.V. Gubar, B. Seeger, J. Pfeiffer, S. Handel, T. Robeck, E. Karpova, T.S. Rozhdestvensky, and J. Brosius Deletion of the MBII-85 snoRNA gene cluster in mice results in postnatal growth retardation PLoS Genet. 3 2007 e235
130. I. Stancheva, O. El-Maarri, J. Walter, A. Niveleau, and R.R. Meehan DNA methylation at promoter regions regulates the timing of gene activation in Xenopus laevis embryos Dev. Biol. 243 2002 155 165
131. E. Struwe, G. Berzl, R. Schild, H. Blessing, L. Drexel, B. Hauck, A. Tzschoppe, M. Weidinger, M. Sachs, C. Scheler, E. Schleussner, and J. Dotsch Microarray analysis of placental tissue in intrauterine growth restriction Clin. Endocrinol. (Oxf.) 72 2010 241 247
132. M.A. Surani, S.C. Barton, and M.L. Norris Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis Nature 308 1984 548 550
133. S. Takada, M. Tevendale, J. Baker, P. Georgiades, E. Campbell, T. Freeman, M.H. Johnson, M. Paulsen, and A.C. Ferguson-Smith Delta-like and gtl2 are reciprocally expressed, differentially methylated linked imprinted genes on mouse chromosome 12 Curr. Biol. 10 2000 1135 1138
134. I.K. Temple, and J.P. Shield 6q24 transient neonatal diabetes Rev Endocr Metab Disord 11 2010 199 204
135. M.J. Thorburn, E.S. Wright, C.G. Miller, and E.H. Smith-Read Exomphalos-macroglossia-gigantism syndrome in Jamaican infants Am. J. Dis. Child. 119 1970 316 321
136. J.L. Thorvaldsen, K.L. Duran, and M.S. Bartolomei Deletion of the H19 differentially methylated domain results in loss of imprinted expression of H19 and Igf2 Gene Dev. 12 1998 3693 3702
137. C.L. Turner, D.M. Mackay, J.L. Callaway, L.E. Docherty, R.L. Poole, H. Bullman, M. Lever, B.M. Castle, E.C. Kivuva, P.D. Turnpenny, S.G. Mehta, S. Mansour, E.L. Wakeling, V. Mathew, J. Madden, J.H. Davies, and I.K. Temple Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci Eur. J. Hum. Genet. 18 2010 648 655
138. N. Vaessen, J.A. Janssen, P. Heutink, A. Hofman, S.W. Lamberts, B.A. Oostra, H.A. Pols, and C.M. van Duijn Association between genetic variation in the gene for insulin-like growth factor-I and low birthweight Lancet 359 2002 1036 1037
139. C. Wallace, D.J. Smyth, M. Maisuria-Armer, N.M. Walker, J.A. Todd, and D.G. Clayton The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes Nat. Genet. 42 2010 68 71
140. X. Wang, Q. Sun, S.D. McGrath, E.R. Mardis, P.D. Soloway, and A.G. Clark Transcriptome-wide identification of novel imprinted genes in neonatal mouse brain PLoS One 3 2008 e3839
141. K.E. Webster, M.K. O'Bryan, S. Fletcher, P.E. Crewther, U. Aapola, J. Craig, D.K. Harrison, H. Aung, N. Phutikanit, R. Lyle, S.J. Meachem, S.E. Antonarakis, D.M. de Kretser, M.P. Hedger, P. Peterson, B.J. Carroll, and H.S. Scott Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis Proc. Natl. Acad. Sci. USA 102 2005 4068 4073
142. R. Weksberg, C. Shuman, and A.C. Smith Beckwith-Wiedemann syndrome Am. J. Med. Genet. C Semin. Med. Genet. 137C 2005 12 23
143. C.M. Williamson, M.D. Turner, S.T. Ball, W.T. Nottingham, P. Glenister, M. Fray, Z. Tymowska-Lalanne, A. Plagge, N. Powles-Glover, G. Kelsey, M. Maconochie, and J. Peters Identification of an imprinting control region affecting the expression of all transcripts in the Gnas cluster Nat. Genet. 38 2006 350 355
144. A. Wutz, O.W. Smrzka, N. Schweifer, K. Schellander, E.F. Wagner, and D.P. Barlow Imprinted expression of the Igf2r gene depends on an intronic CpG island Nature 389 1997 745 749
145. A.A. Wylie, S.K. Murphy, T.C. Orton, and R.L. Jirtle Novel imprinted DLK1/GTL2 domain on human chromosome 14 contains motifs that mimic those implicated in IGF2/H19 regulation Genome Res. 10 2000 1711 1718
146. T. Yang, T.E. Adamson, J.L. Resnick, S. Leff, R. Wevrick, U. Francke, N.A. Jenkins, N.G. Copeland, and C.I. Brannan A mouse model for Prader-Willi syndrome imprinting-centre mutations Nat. Genet. 19 1998 25 31