Mechanisms of epigenetic variation: Polymorphic imprinting

Current Genomics

Volumn 5, Issue 5, 2004, Pages 417-429

  Naumova, Anna K ^a,b   Croteau, S ^a,b  

^a RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^b MCGILL UNIVERSITY   (Canada)

Author keywords

Cancer; Epigenetic variation; Genomic imprinting; Tissue specific

Indexed keywords

ALPHA GLOBIN; CYCLIN DEPENDENT KINASE; DNA; DROSOPHILA PROTEIN; MESSENGER RNA; RAS PROTEIN; SEROTONIN 2 RECEPTOR; SOMATOMEDIN B RECEPTOR; TUMOR SUPPRESSOR PROTEIN;

ALLELE; BIOSTATISTICS; CHROMATIN; DNA METHYLATION; DNA MODIFICATION; ENVIRONMENTAL FACTOR; EPIGENETICS; GAMETOGENESIS; GENE EXPRESSION; GENE INTERACTION; GENE SILENCING; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC REGULATION; GENETIC VARIABILITY; GENOME IMPRINTING; HEREDITY; HUMAN; MAMMAL; MITOSIS; NONHUMAN; PARENT; PHENOMENOLOGY; PHENOTYPIC VARIATION; POPULATION GENETICS; REVIEW; TISSUE SPECIFICITY; X CHROMOSOME INACTIVATION;

MAMMALIA;

EID: 3042580215     PISSN: 13892029     EISSN: None     Source Type: Journal    
DOI: 10.2174/1389202043349183     Document Type: Review

References (119)

1. Tsai, C.E., Lin, S.P., Ito, M., Takagi, N., Takada, S. and Ferguson-Smith, A.C. Genomic imprinting contributes to thyroid hormone metabolism in the mouse embryo. Current Biology 2002, 12: 1221-1226.
2. Qian, N., Frank, D., O'Keefe, D., Dao, D., Zhao, L., Yuan, L., Wang, Q, Keating, M., Walsh, C. and Tycko, B. The IPL gene on chromosome 11p15.5 is imprinted in humans and mice and is similar to TDAG51, implicated in Fas expression and apoptosis. Human Molecular. Genetics 1997, 6: 2021-2029.
3. McGrath, J. and Solter, D. Inability of mouse blastomere nuclei transferred to enucleated zygotes to support development in vitro. Science 1984, 226: 1317-1319.
4. Barton, S.C., Surani, M.A. and Norris, M.L. Role of paternal and maternal genomes in mouse development. Nature 1984, 311: 374-376.
5. Cattanach, B.M. and Beechey, C.V. Autosomal and X-chromosome imprinting. Development 1990, Suppl: 63-72.
6. Constancia, M., Pickard, B., Kelsey, G. and Reik, W. Imprinting mechanisms. Genome Research 1998, 8: 881-900.
7. Verona, R.I., Mann, M.R. and Bartolomei, M.S. Genomic imprinting: intricacies of epigenetic regulation in clusters. Annual Review of Cell & Developmental Biology 2003, 19: 237-259.
8. Neumann, B., Kubicka, P. and Barlow, D.P. Characteristics of imprinted genes. Nat. Genet. 1995, 9: 12-3.
9. Reinhart, B., Eljanne, M. and Chaillet, J.R. Shared role for differentially methylated domains of imprinted genes. Molecular & Cellular Biology. 2002, 22: 2089-2098.
10. Cranston, M., Spinka, T., Elson, D. and Bartolomei, M. Elucidation of the minimal sequence required to imprint H19 transgenes. Genomics 2001, 73: 98-107.
11. Ainscough, J.F.X., Dandolo, L. and Surani, M.A. Appropriate expression of the mouse H19 gene utilises three or more distinct enhancer regions spread over more than 130 kb. Mechanisms of Development 2000, 91: 365-368.
12. Sleutels, F. and Barlow, D. Investigation of elements sufficient to imprint the mouse air promoter. Molecular & Cellular Biology 2001, 21: 5008-5017.
13. Hanel, M.L. and Wevrick, R. Establishment and maintenance of DNA methylation patterns in mouse Ndn: implications for maintenance of imprinting in target genes of the imprinting center. Mol Cell Biol. 2001, 21: 2384-2392.
14. Takada, S., Paulsen, M., Tevendale, M, Tsai, C.E., Kelsey, G., Cattanach, B.M. and Ferguson-Smith, A.C. Epigenetic analysis of the Dlk1-Gtl2 imprinted domain on mouse chromosome 12: implications for imprinting control from comparison with Igf2-H19. Hum. Mol. Genet. 2002, 11: 77-86.
15. Lopes, S., Lewis, A., Hajkova, P., Dean, W., Oswald, J., Forne, T., Murrell, A., Constancia, M, Bartolomei, M., Walter, J. and Reik, W. Epigenetic modifications in an imprinting cluster are controlled by a hierarchy of DMRs suggesting long-range chromatin interactions. Hum. Mol. Genet. 2003, 12: 295-305.
16. Kanduri, C., Pant, V., Loukinov, D., Pugacheva, E., Qi, C.F., Wolffe, A., Ohlsson, R. and Lobanenkov, V.V. Functional association of CTCF with the insulator upstream of the H19 gene is parent of origin-specific and methylation-sensitive. Current Biology 2000, 10: 853-856.
17. Schoenherr, C.J., Levorse, J.M. and Tilghman, S.M. CTCF maintains differential methylation at the Igf2/H19 locus. Nature Genetics 2003, 33: 66-69.
18. Hark, A.T., Schoenherr, C.J., Katz, D.J., Ingram, R.S., Levorse, J.M. and Tilghman, S.M. CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus. Nature 2000, 405: 486-489.
19. Kanduri, C., Fitzpatrick, G., Mukhopadhyay, R., Kanduri, M., Lobanenkov, V., Higgins, M. and Ohlsson, R. A differentially methylated imprinting control region within the Kcnq1 locus harbors a methylation-sensitive chromatin insulator. Journal of Biological Chemistry 2002, 277: 18106-18010.
20. Thakur, N., Kanduri, M., Holmgren, C., Mukhopadhyay, R. and Kanduri, C. Bidirectional silencing and DNA methylation-sensitive methylation-spreading properties of the Kcnq1 imprinting control region map to the same regions. Journal of Biological Chemistry 2003, 278: 9514-9519.
21. Li, E. Chromatin modification and epigenetic reprogramming in mammalian development. Nature Reviews Genetics 2002, 3: 662-673.
22. Ogawa, O., Eccles, MR., Szeto, J., McNoe, L.A., Yun, K., Maw, M.A., Smith, P.J. and Reeve, A.E. Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour. Nature 1993, 362: 749-745.
23. Frevel, M.A., Sowerby, S.J., Petersen, G.B. and Reeve, A.E. Methylation sequencing analysis refines the region of H19 epimutation in Wilms tumor. J. Biol. Chem. 1999, 274: 29331-29340.
24. Rainier, S., Johnson, L., Dobry, C., Ping, A., Grundy, P. and Feinberg, A. Relaxation of imprinted genes in human cancer. Nature 1993, 362: 747-749.
25. Rainier, S., Dobry, C.J. and Feinberg, A.P. Loss of Imprinting in Hepatoblastoma. Cancer Research 1995, 55: 1836-1838.
26. Joyce, J.A., Lam, W.K., Catchpoole, D.J., Jenks, P., Reik, W., Maher, E.R. and Schofield, P.N. Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-Wiedemann syndrome. Hum. Mol. Genet. 1997, 6: 1543-1548.
27. Engel, J.R., Smallwood, A., Harper, A., Higgins, M.J., Oshimura, M., Reik, O., Schofield, P.N. and Maher, E.R. Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome. Journal of Medical Genetics 2000, 37: 921-926.
28. Bliek, J., Maas, S.M., Ruijter, J.M., Hennekam, R.C, Alders, M, Westerveld, A. and Mannens, M.M. Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS. Human Molecular Genetics 2001, 10: 467-476.
29. Gaston, V., Le Bouc, Y., Soupre, V., Burglen, L., Donadieu, J., Oro, H., Audry, G., Vazquez, M.P. and Gicquel, C. Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis anal prognosis of Beckwith-Wiedemann syndrome. European Journal of Human Genetics 2001, 9: 409-418.
30. DeBaun, M.R., Niemitz, E.L., McNeil, D.E., Brandenburg, S.A., Lee, M.P. and Feinberg, A.P. Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. American Journal of Human Genetics 2002, 70: 604-611.
31. DeBaun, M.R., Niemitz, E.L. and Feinberg, A.P. Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19. American Journal of Human Genetics 2003, 72: 156-160.
32. Nicholls, R.D., Saitoh, S. and Horsthemke, B. Imprinting in Prader-Willi and Angelman syndromes. Trends. Genet. 1998, 14: 194-200.
33. Buiting, K., Dittrich, B., Gross, S., Lich, C., Farber, C., Buchholz, T., Smith, E., Reis, A., Burger, J., Nothen, M.M., Barth-Witte, U., Janssen, B., Abeliovich, D., Lerer, I., van den Ouweland, A.M., Halley, D.J., Schrander-Stumpel, C., Smeets, H., Meinecke, P., Malcolm, S., Gardner, A., Lalande, M., Nicholls, R.D., Friend, K., Horsthemke, B. and al, e. Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am. J. Hum. Genet. 1998, 63: 170-180.
34. Buiting, K., Farber, C., Kroisel, P., Wagner, K., Brueton, L., Robertson, M.E., Lich, C. and Horsthemke, B. Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counselling. Clinical Genetics 2000, 58: 284-290.
35. Riesewijk, A.M., Hu, L., Schulz, U., Tariverdian, G., Hoglund, P., Kere, J., Ropers, H.H. and Kalscheuer, V.M. Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses. Genomics 1997, 42: 236-244.
36. Kosaki, K., Kosaki, R., Craigen, W.J. and Matsuo, N. Isoform-specific imprinting of the human PEG1/MEST gene. Am. J. Hum. Genet. 2000, 66: 309-312.
37. Vu, T.H. and Hoffman, A.R. Promoter-Specific Imprinting of the Human Insulin-Like Growth Factor-Ii Gene. Nature 1994, 371: 714-717.
38. Ekstrom, T.J., Cui, H.M. and Ohlsson, R. Promoter-Specific Igf2 Imprinting Status and Its Plasticity During Human Liver Development. Development 1995, 121: 309-316.
39. Issa, J.P., Vertino, P.M., Boehm, C.D., Newsham, I.F. and Baylin, S.B. Switch from monoallelic to biallelic human IGF2 promoter methylation during aging and carcinogenesis. Proc. Natl. Acad. Sci. USA 1996, 93: 11757-11762.
40. Kim, S.J., Park, S.E., Lee, C., Lee, S.Y., Jo, J.H., Kim, J.M. and Oh, Y.K. Alterations in promoter usage and expression levels of insulin-like growth factor-II and H19 genes in cervical carcinoma exhibiting biallelic expression of IGF-II. Biochim. Biophys. Acta 2002, 1586: 307-315.
41. Wroe, S., Kelsey, G., Skinner, J., Bodle, D., Ball, S., Beechey, C., Peters, J. and Williamson, C. An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus. PNAS 2000, 97: 3342-3346.
42. Coombes, C., Arnaud, P., Gordon, E., Dean, W., Coar, E.A., Williamson, C.M., Feil, R., Peters, J. and Kelsey, G. Epigenetic properties and identification of an imprint mark in the nesp-gnasxl domain of the mouse gnas imprinted locus. Mol. Cell. Biol. 2003, 23: 5475-5488.
43. Blagitko, N., Mergenthaler, S., Schulz, U., Wollmann, H.A., Craigen, W., Eggermann, T., Ropers, H.H. and Kalscheuer, V.M. Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion. Hum. Mol. Genet. 2000, 9: 1587-1595.
44. McCann, J.A., Zheng, H., Islam, A., Goodyer, C.G. and Polychronakos, C. Evidence against GRB10 as the gene responsible for Silver-Russell syndrome. Biochemical & Biophysical Research Communications. 2001, 286: 943-948.
45. Hikichi, T., Kohda, T., Kaneko-Ishino, T. and 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 Research 2003, 31: 1398-406.
46. Arnaud, P., Monk, D., Hitchins, M., Gordon, E., Dean, W., Beechey, C.V., Peters, J., Craigen, W., Preece, M., Stanier, P., Moore, G.E. and Kelsey, G. Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark. Human Molecular Genetics 2003, 12: 1005-1019.
47. Hu, J.F., Omganti, H., Vu, T.H. and Hoffman, A.R. Tissue-specific imprinting of the mouse insulin-like growth factor II receptor gene correlates with differential allele-specific DNA methylation. Molecular Endocrinology 1998, 12: 220-232.
48. Tufarelli, C., Stanley, J.A., Garrick, D., Sharpe, J.A., Ayyub, H., Wood, W.G. and Higgs, D.R. Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease. Nature Genetics 2003, 34: 157-165.
49. Zwart, R., Sleutels, F., Wutz, A., Schinkel, A. and Barlow, D. Bidirectional action of the Igf2r imprint control element on upstream and downstream imprinted genes. Genes & Development 2001, 15: 2361-2366.
50. Sleutels, F., Zwart, R. and Barlow, D.P. The non-coding Air RNA is required for silencing autosomal imprinted genes. Nature 2002, 415: 810-813.
51. Ogawa, Y. and Lee, J.T. Antisense regulation in X inactivation and autosomal imprinting. Cytogenetic & Genome Research 2002, 99: 59-65.
52. Watanabe, T., Yoshimura, A., Mishima, Y., Endo, Y., Shiroishi, T., Koide, T., Sasaki, H., Asakura, H. and Kominami, R. Differential chromatin packaging of genomic imprinted regions between expressed and non-expressed alleles. Human Molecular Genetics 2000, 9: 3029-3035.
53. Saitoh, S. and Wada, T. Parent-of-origin specific histone acetylation and reactivation of a key imprinted gene locus in Prader-Willi syndrome. American Journal of Human Genetics 2000, 66: 1958-1962.
54. Xin, Z., Allis, C.D. and 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. 2001, 69: 1389-1394.
55. Yoshioka, H., Shirayoshi, Y. and Oshimura, M. A novel in vitro system for analyzing parental allele-specific histone acetylation in genomic imprinting. Journal of Human Genetics 2001, 46: 626-632.
56. Fournier, C., Goto, Y.J., Ballestar, E., Delaval, K., Hever, A.M., Esteller, M. and Feil, R. Allele-specific histone lysine methylation marks regulatory regions at imprinted mouse genes. EMBO Journal 2002, 21: 6560-6570.
57. Higashimoto, K., Urano, T., Sugiura, K., Yatsuki, H., Joh, K., Zhao, W., Iwakawa, M., Ohashi, H., Oshimum, M., Niikawa, N., Mukai, T. and Soejima, H. Loss of CpG Methylation Is Strongly Correlated with Loss of Histone H3 Lysine 9 Methylation at DMR-LIT1 in Patients with Beckwith-Wiedemann Syndrome. Am. J. Hum. Genet. 2003, 73: 948-56.
58. Greally, J.M. and State, M.W. Genetics of childhood disorders: XIII. Genomic imprinting: the indelible mark of the gamete. Journal of the American Academy of Child & Adolescent Psychiatry 2000, 39: 532-535.
59. Greally, J.M., Guinness, M.E., McGrath, J. and Zemel, S. Matrix-attachment regions in the mouse chromosome 7F imprinted domain. Mammalian Genome 1997, 8: 805-810.
60. Weber, M., Hagege, H., Murrell, A., Brunel, C., Reik, W., Cathala, G. and Forne, T. Genomic imprinting controls matrix attachment regions in the Igf2 gene. Molecular & Cellular Biology 2003, 23: 8953-8959.
61. Park, K.Y. and Pfeifer, K. Epigenetic interplay [comment]. Nature Genetics 2003, 34: 126-128.
62. Caspary, T., Cleary, M.A., Baker, C.C., Guan, X.J. and Tilghman, S.M. Multiple mechanisms regulate imprinting of the mouse distal chromosome 7 gene cluster. Mol. Cell. Biol. 1998, 18: 3466-3474.
63. Tanaka, M., Puchyr, M., Gertsenstein, M., Harpal, K., Jaenisch, R., Rossant, J. and 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. Mechanisms of Development. 1999, 87: 129-142.
64. Yatsuki, H., Joh, K., Higashimoto, K., Soejima, H., Arai, Y., Wang, Y., Hatada, I., Obata, Y., Morisaki, H., Zhang, Z., Nakagawachi, T., Satoh, Y. and Mukai, T. Domain regulation of imprinting cluster in Kip2/Lit1 subdomain on mouse chromosome 7F4/F5: large-scale DNA methylation analysis reveals that DMR-Lit1 is a putative imprinting control region. Genome Research 2002, 12: 1860-1870.
65. Cleary, M.A., van Raamsdonk, C.D., Levorse, J., Zheng, B., Bradley, A. and Tilghman, S.M. Disruption of an imprinted gene cluster by a targeted chromosomal translocation in mice. Nat Genet 2001, 29: 78-82.
66. Varmuza, S. and Mann, M. Genomic imprinting - defusing the ovarian time bomb. Trends. Genet. 1994, 10: 118.
67. Sleutels, F. and Barlow, D.P. The origins of genomic imprinting in mammals. Advances in Genetics 2002, 46: 119-163.
68. Mager, J., Montgomery, N.D., de Villena, F.P. and Magnuson, T. Genome imprinting regulated by the mouse Polycomb group protein Eed. Nature Genetics 2003, 33: 502-507.
69. Pirrotta, V. PcG complexes and chromatin silencing. Current Opinion in Genetics & Development 1997, 7: 249-258.
70. Erhardt, S., Su, I.H., Schneider, R., Barton, S., Bannister, A.J., Perez-Burgos, L., Jenuwein, T., Kouzarides, T., Tarakhovsky, A. and Surani, M.A. Consequences of the depletion of zygotic and embryonic enhancer of zeste 2 during preimplantation mouse development. Development 2003, 130: 4235-4248.
71. Faust, C., Lawson, K.A., Schork, N.J., Thiel, B. and Magnuson, T. The Polycomb-group gene eed is required for normal morphogenetic movements during gastrulation in the mouse embryo. Development 1998, 125: 4495-4506.
72. Silva, J., Mak, W., Zvetkova, I., Appanah, R., Nesterova, T.B., Webster, Z., Peters, A.H., Jenuwein, T., Otte, A.P. and Brockdorff, N. Establishment of histone h3 methylation on the inactive X chromosome requires transient recruitment of Eed-Enx1 polycomb group complexes. Developmental Cell 2003, 4: 481-495.
73. Szabo, P.E. and Mann, J.R. Allele-Specific Expression and Total Expression Levels of Imprinted Genes During Early Mouse Development - Implications For Imprinting Mechanisms. Genes. & Development 1995, 9: 3097-3108.
74. Szabo, P.E. and Mann, J. 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. 1996, 15: 6018-6025.
75. Guillemot, F., Caspary, T., Tilghman, S.M., Copeland, N.G., Gilbert, D.J., Jenkins, N.A., Anderson, D.J., Joyner, A.L., Rossant, J. and Nagy, A. Genomic Imprinting of Mash2, a Mouse Gene Required For Trophoblast Development. Nature Genetics 1995, 9: 235-242.
76. Jiang, S., Hemann, M.A., Lee, M.P. and Feinberg, A.P. Strain-dependent developmental relaxation of imprinting of an endogenous mouse gene, Kvlqt1. Genomics 1998, 53: 395-399.
77. 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. and Chapman, V.M. Identification of Grf1 on mouse chromosome 9 as an imprinted gene by RLGS-M. Nature Genetics 1996, 14: 106-109.
78. Nishiwaki, K., Niikawa, N. and Ishikawa, M. Polymorphic and tissue-specific imprinting of the human Wilms tumor gene, WT1. Japanese Journal of Human Genetics 1997, 42: 205-211.
79. Forejt, J. and Gregorova, S. Genetic analysis of genomic imprinting: an Imprintor-1 gene, controls inactivation of the paternal copy of the mouse Tme locus. Cell 1992, 70: 443-450.
80. Rogers, I., Okano, K. and Varmuza, S. Paternal transmission of the mouse Thp mutation is lethal in some genetic backgrounds. Dev. Genet. 1997, 20: 23-28.
81. Ludwig, T., Eggenschwiler, J., Fisher, P., D'Ercole, A.J., Davenport, M.L. and Efstratiadis, A. Mouse mutants lacking the type 2 IGF receptor (IGF2R) are rescued from perinatal lethality in Igf2 and Igf1r null backgrounds. Dev. Biol. 1996, 177: 517-535.
82. Croteau, S., Charron, M.C., Latham, K.E. and Naumova, A.K. Alternative splicing and imprinting control of the Meg3/Gtl2-Dlk1 locus in mouse embryos. Mamm. Genome 2003, 14: 231-241.
83. Vrana, P.B., Guan, X.J., Ingram, R.S. and Tilghman, S.M. Genomic Imprinting is disrupted in interspecific Peromyscus hybrids. Nat. Genet. 1998, 20: 362-365.
84. Vrana, P.B., Fossella, J.A., Matteson, P., del Rio, T., O'Neill, M.J. and Tilghman, S.M. Genetic and epigenetic incompatibilities underlie hybrid dysgenesis in Peromyscus. Nature Genetics 2000, 25: 120-124.
85. Sapienza, C., Paquette, J., Tran, T.H. and Peterson, A. Epigenetic and genetic factors affect transgene methylation imprinting. Development 1989, 107: 165-168.
86. Allen, N.D., Norris, M.L. and Surani, M.A. Epigenetic control of transgene expression and imprinting by genotype-specific modifiers. Cell 1990, 61: 853-861.
87. Engler, P., Haasch, D., Pinkert, C.A., Glymour, M. and Brinster, R.e.a. A strain-specific modifier on mouse chromosome 4 controls the methylation of independent transgene loci. Cell 1991, 65: 939-947.
88. Chaillet, J.R. Genomic imprinting: lessons from mouse transgenes. Mutation Research 1994, 307: 441-449.
89. Wutz, A., Theussl, H.C., Dausman, J., Jaenisch, R., Barlow, D.P. and Wagner, E.F. Non-imprinted Igf2r expression decreases growth and rescues the Tme mutation in mice. Development 2001, 128: 1881-1887.
90. Filson, A.J., Louvi, A., Efstratiadis, A. and Robertson, E.J. Rescue of the T-Associated Maternal Effect in Mice Carrying Null Mutations in Igf-2 and Igf2r, 2 Reciprocally Imprinted Genes. Development 1993, 118: 731-736.
91. Valenza-Schaerly, P., Pickard, B., Walter, J., Jung, M., Pourcel, L., Reik, W., Gauguier, D., Vergnaud, G. and Pourcel, C. A dominant modifier of transgene methylation is mapped by QTL analysis to mouse chromosome 13. Genome Research 2001, 11: 382-388.
92. Pickard, B., Dean, W., Engemann, S., Bergmann, K., Fuermann, M., Jung, M., Reis, A., Allen, N., Reik, W. and Walter, J. Epigenetic targeting in the mouse zygote marks DNA for later methylation: a mechanism for maternal effects in development. Mech. Dev. 2001, 103: 35-47.
93. Murrell, A., Heeson, S., Cooper, W.N., Douglas, E., Apostolidou, S., Moore, G.E., Maher, E.R. and Reik, W. An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype. Human Molecular Genetics 2004, 13: 247-255.
94. Xu, Y.Q., Grundy, P. and Polychronakos, C. Aberrant imprinting of the insulin-like growth factor II receptor gene in Wilms tumor. Oncogene 1997, 14: 1041-1046.
95. Doherty, A.S., Mann, M.R.W., Tremblay, K.D., Bartolomei, M.S. and Schultz, R.M. Differential effects of culture on imprinted H19 expression in the preimplantation mouse embryo. Biology of Reproduction 2000, 62: 1526-1535.
96. Khosla, S., Dean, W., Reik, W. and Feil, R. Epigenetic and experimental modifications in early mammalian development: Part II - Culture of preimplantation embryos and its long-term effects on gene expression and phenotype. Human Reproduction Update 2001, 7: 419-427.
97. Gosden, R., Trasler, J., Lucifero, D. and Faddy, M. Rare congenital disorders, imprinted genes, and assisted reproductive technology. Lancet 2003, 361: 1975-1977.
98. Xu, Y., Goodyer, C.G., Deal, C. and Polychronakos, C. Functional polymorphism in the parental imprinting of the human IGF2R gene. Biochem. Biophys. Res. Commun. 1993, 197: 747-754.
99. Jinno, Y., Yun, K., Nishiwaki, K., Kubota, T., Ogawa, O., Reeve, A.E. and Niikawa, N. Mosaic and polymorphic imprinting of the WT1 gene in humans. Nature Genetics 1994, 6: 305-309.
100. Giannoukakis, N., Deal, C., Paquette, J., Kukuvitis, A. and Polychronakos, C. Polymorphic functional imprinting of the human IGF2 gene among individuals, in blood cells, is associated with H19 expression. Biochem. Biophys. Res. Com. 1996, 220: 1014-1019.
101. Smrzka, O.W., Fae, I., Stoger, R., Kurzbauer, R., Fischer, G.F., Henn, T., Weith, A. and Barlow, D.P. Conservation of a maternal-specific methylation signal at the human IGF2R locus. Human Molecular Genetics 1995, 4: 1945-1952.
102. Mitsuya, K., Sui, H., Meguro, M., Kugoh, H., Jinno, Y., Niikawa, N. and Oshimura, M. Paternal expression of WT1 in human fibroblasts and lymphocytes. Hum. Molec. Genet. 1997, 6: 2243-2246.
103. Bunzel, R., Blumcke, I., Cichon, S., Normann, S., Schramm, J., Propping, P. and Nothen, M.M. Polymorphic imprinting of the serotonin-2A (5-HT2A) receptor gene in human adult brain. Brain Research Molecular Brain Research 1998, 59: 90-92.
104. Pastinen, T., Sladek, R., Gurd, S., Sammak, A., Ge, B., Lepage, P., Lavergne, K., Villeneuve, A., Gaudin, T., Brandstrom, H., Beck, A., Verner, A., Kingsley, J., Harmsen, E., Labuda, D., Morgan, K., Vohl, M.C., Naumova, A.K., Sinnett, D. and Hudson, T.J. A survey of genetic and epigenetic variation affecting human gene expression. Physiol. Genomics 2004, 16: 184-193.
105. Sakatani, T., Wei, M., Katoh, M, Okita, C., Wada, D., Mitsuya, K., Meguro, M., Ikeguchi, M, Ito, H., Tycko, B. and Oshimura, M. Epigenetic heterogeneity at imprinted loci in normal populations. Biochem. Biophys. Res. Commun. 2001, 283: 1124-1130.
106. Sandovici, I., Leppert, M., Hawk, P.R., Suarez, A., Linares, Y. and Sapienza, C. Familial aggregation of abnormal methylation of parental alleles at the IGF2/H19 and IGF2R differentially methylated regions. Human Molecular Genetics 2003, 12: 1569-1578.
107. Croteau, S., Polychronakos, C. and Naumova, A.K. Imprinting defects in mouse embryos: stochastic errors or polymorphic phenotype. Genesis 2001, 31: 11-16.
108. Croteau, S., Freitas-Andrade, M., Huang, F., Greenwood, C.M.T., Morgan, K. and Naumova, A.K. Inheritance patterns of maternal alleles in imprinted regions of the mouse genome at different stages of development. Mam. Genome. 2002, 13: 24-29.
109. Feinberg, A.P. and Tycko, B. The history of cancer epigenetics. Nature Reviews. Cancer. 2004, 4: 143-153.
110. Weksberg, R., Shen, D.R., Fei, Y.L., Song, Q.L. and Squire, J. Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome. Nat. Genet. 1993, 5: 143-150.
111. Cui, H., Horon, I.L., Ohlsson, R., Hamilton, SR. and Feinberg, A.P. Loss of imprinting in normal tissue of colorectal cancer patients with microsatellite instability. Nat. Med. 1998, 4: 1276-1280.
112. Cui, H., Cruz-Correa, M., Giardiello, F.M., Hutcheon, D.F., Kafonek, D.R., Brandenburg, S., Wu, Y., He, X., Powe, N.R. and Feinberg, A.P. Loss of IGF2 imprinting: a potential marker of colorectal cancer risk. Science 2003, 299: 1753-1755.
113. Polychronakos, C. and Kukuvitis, A. Parental genomic imprinting in endocrinopathies. European Journal of Endocrinology 2002, 147: 561-569.
114. Petronis, A. The genes for major psychosis: aberrant sequence or regulation. Neuropsychopharmacology 2000, 23: 1-12.
115. Popendikyte, V., Laurinavicius, A:, Paterson, A.D., Macciardi, F., Kennedy, J.L. and Petronis, A. DNA methylation at the putative promoter region of the human dopamine D2 receptor gene. Neuroreport 1999, 10: 1249-1255.
116. . Petronis, A., Gottesman, II, Kan, P., Kennedy, J.L., Basile, V.S., Paterson, A.D. and Popendikyte, V. Monozygotic twins exhibit numerous epigenetic differences: clues to twin discordance? Schizophrenia Bulletin 2003, 29: 169-178.
117. Oudejans, C.B., Westerman, B., Wouters, D., Gooyer, S., Leegwater, P.A., van Wijk, I.J. and Sleutels, F. Allelic IGF2R repression does not correlate with expression of antisense RNA in human extraembryonic tissues. Genomics 2001, 73: 331-337.
118. Malik, K., Salpekar, A., Hancock, A., Moorwood, K., Jackson, S., Charles, A. and Brown, K.W. Identification of differential methylation of the WT1 antisense regulatory region and relaxation of imprinting in Wilms' tumor. Cancer Research 2000, 60: 2356-2360.
119. Lin, S.-P., Youngson, N., Takada, S., Seitz, H., Reik, W., Paulsen, M., Cavalle, J. and Ferguson-Smith, A. Assymetric regulation of imprinting on the maternal and paternal chromosomes at the Dlk1-Gtl2 imprinted cluster on mouse chromosome 12. Nat. Genet. 2003, 35: 97-102.