Imprinted genes as potential genetic and epigenetic toxicologic targets

Environmental Health Perspectives

Volumn 108, Issue SUPPL. 1, 2000, Pages 5-11

  Murphy, Susan K ^a   Jirtle, Randy L ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Angelman syndrome; Beckwith Wiedemann syndrome; Cancer; Genetic disorders; Genomic imprinting; Growth defects; MGP IGF2R; Oncogenes; Prader Willi syndrome; Tumor suppressor genes; Wilms tumor

Indexed keywords

CYTOSINE; HISTONE; TOXIC SUBSTANCE;

ACETYLATION; ALLELE; BECKWITH WIEDEMANN SYNDROME; BEHAVIOR DISORDER; CANCER; CHROMATIN STRUCTURE; CPG ISLAND; DEVELOPMENTAL DISORDER; DNA METHYLATION; EVOLUTION; GENE EXPRESSION; GENE LOCUS; GENETIC SUSCEPTIBILITY; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; HUMAN; NEUROLOGIC DISEASE; NONHUMAN; POSTNATAL DEVELOPMENT; PRADER WILLI SYNDROME; PREGNANCY; PRIORITY JOURNAL; REVIEW; TOXICITY TESTING;

EUTHERIA; MAMMALIA;

EID: 0034078699     PISSN: 00916765     EISSN: None     Source Type: Journal    
DOI: 10.1289/ehp.00108s15     Document Type: Review

References (167)

1. Brockdorff N, Duthie SM. X chromosome inactivation and the Xist gene. Cell Mol Life Sci 54:104-112 (1998).
2. Constancia M, Pickard B, Kelsey G, Reik W. Imprinting mechanisms. Genome Res 8:881-900 (1998).
3. Bartolomei MS, Tilghman SM Genomic imprinting in mammals Annu Rev Genet 31:493-525 (1997).
4. Barlow DP Gametic imprinting in mammals. Science 270:1610-1613 (1995).
5. Fei R, Kelsey G. Genomic imprinting: a chromatin connection. Am J Hum Gent 61:1213-1219 (1997).
6. Pulford DJ, Falls JG, Killian JK, Jirtle RL Polymorphisms, genomic imprinting and cancer susceptibility Mutat Res 436:59-67 (1999).
7. Jirtle RL Genomic imprinting and cancer. Exp Cell Res 248:18-24 (1999).
8. Dao D, Frank D, Qan N, O'Keefe D, Vosatka RJ, Walsh CP, Tycko B. IMPTI, an imprinted gene similar to polyspecific transporter and multi-drug resistance genes. Hum Mol Genet 7:597-608 (1998).
9. Okamoto K, Morison IM, Taniguchi T, Reeve AE. Epigenetic changes at the insulin-like growth factor II/H19 locus in developing kidney is an early event in Wilms tumorigenesis. Proc Natl Acad Sci USA 94:5367-5371 (1997).
10. Vu TH, Hoffman AR. Promoter-specific imprinting of the human insulin-like growth factor-l gene. Nature 371:714-717 (1994).
11. Jirno Y, Yun K, Nishiwaki K, Kubota T, Ogawa O, Reeve AE, Nikawa N. Mosaic and polymorphic imprinting of the WTI gene in humans. Nat Genet 6:305-309 (1994).
12. Xu Y, Goodyer CG, Deal C, Pclychronakos C Functional polymerphism in the parental imprinting of the human IGF2R gene. Biochem Biophys Res Commun 197:747-754 (1993).
13. Crouse HV. The controlling element in sex chromosome behavior in Sciata Genetics 45:1429-1443 (1960).
14. Kermicle JL, Alleman M. Gametic imprinting in maize in relation to the angiosperm life cycle. Dev (suppl) 9-14 (1990).
15. Martin CC, McGowan R. Genotype specific modifiers of transgene methylation and expression in the zebrafish. Danio rerio Genet Res 65:21-28 (1995).
16. Lloyd VK, Sinclair DA, Grig iatti TA Genomic imprinting and position-effect variegation in Drosophila melanogaster. Genetics 151:1503-1516 (1999).
17. Brun LO, Stuart J, Gaudichen V, Aronstein K, French-Constant RH. Functional haplodiploidy: a mechanism for the spread of insecticide resistance in an important international insect pest. Proc Natl Acad Sci USA 92:9861-9865 (1995).
18. Nur U, Werren JH, Eickbush DG, Burke WD, Eickbush TH. A "selfish" B chromosome that enhances its transmission by eliminating the paternal genome Science 240:512-514 (1988).
19. Chandra HS, Brown SW Chromosome imprinting and the mammalian X chromosome. Nature 253:165-168 (1975).
20. Corley-Smith GE, Lim CJ, Brandhorst BP Production of androgenetic zebrafish (Danio rerio). Genetics 142:1265-1276 (1996).
21. Komma DJ, Endow SA Haplo dy and androgenesis in Drosophila Proc Natl Acad Sci USA 92:11884-11888 (1995).
22. Streisnger G, Walker C, Dowe' N, Knauber D, Singer F. Production of clones of nomozygous diploid zebra fish (Brachydanio rerio). Nature 291:293-296 (1981).
23. Ohama K, Nomura K, Okamoto E, Fukuda Y, Ihara T, Fujiwara A. Origin of immature teratoma of the ovary. Am J Obstet Gynecol 152:896-900 (1985).
24. McGrath J, Solter D. Completion of mouse embryogenesis requires both the maternal and paternal genomes. Cell 37:179-183 (1984).
25. Surani MA, Barton SC, Norris ML. Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis Nature 308:548-550 (1984).
26. Kajii T, Ohama K. Androgenetic origin of hydatid form mole. Nature 268:633-634 (1977).
27. Solter D. Differential imprinting and expression of maternal and paternal genomes. Annu Rev Genet 22:127-146 (1988).
28. Cattanach BM. Parental origin effects in mice J Embryol Exp Morphol 97 Suppl:137-150 (1986).
29. Swain JL, Stewart TA, Leder P. Parental legacy determines methylation and expression of an autosomal transgene a molecular mechanism for parental imprinting. Cell 50:719-727 (1987).
30. Barlow DP, Stoger R, Herrmann BG, Saito K Schweifer N The mouse insulin-like growth factor type-2 receptor s imprinted and closely linked to the Tme locus Nature 349:84-87(1991).
31. DeChiara TM, Robertson EJ, Efstratisdis A. Parental imprinting of the mouse insulin-like growth factor II gene. Cell 64:849-859 (1991).
32. Pham NV, Nguyen MT, Hu J-F, Vu TH, Hoffman AR. Dissociation of IGF2 and H19 imprinting in human brain. Brain Res 810:1-8 (1998).
33. Wang ZQ, Fung MF, Barlow DP, Wagner EF. Regulation of embryonic growth and lysosomal targeting by the imprinted lgf2/Mpr gene. Nature 372:464-467 (1994).
34. Kornfeld S. Structure and function of the mannose 6-phosphate/insulinlike growth factor II receptors. Annu Rev Biochem 61:307-330 (1992).
35. Czech MP, Lewis RE, Corvera S. Multifunctional glycoprotein receptors for insulin and the insulin-like growth factors. Ciba Found Symp 145:27-41 (1989).
36. Frasca F, Pandini G, Scalia P, Sciacca L, Mineo R, Costantino A, Goldfine ID, Belfiore A, Vignen R. Insulin receptor isoform A, a newly recognized, high-affinity insulin-like growth factor II receptor in fetal and cancer cells. Mol Cell Biol 19:3278-3288 (1999).
37. Wevrick R, Kerns JA, Francke U Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. Hum Mol Genet 3:1877-1882 (1994).
38. Zhang Y, Tycko B Monoallelic expression of the human H19 gene. Nature Genet 1:40-44 (1992).
39. Mitsuva K, Meguro M, Lee MP, Katoh M, Schulz TC, Kugoh H, Yoshida MA. Nukawa N, Feinberg AP, Oshimura M. LIT1, an imprinted antisense RNA in the human KvLOT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids. Hum Mol Genet 8:1209-1217 (1999).
40. Moore T, Constancia M, Zubair M, Bailleul B, Feil R, Sasaki H, Reik W. Multiple imprinted sense and ant sense transcripts, different al methylation and tandem repeats in a putative imprinting control region upstream of mouse lgf2. Proc Natl Acad Sci USA 94:12509-12514 (1997).
41. Leighton PA, Ingram RS, Eggenschwiler J, Efstratiacis A, Tilghman SM. Disruption of imprinting caused by celetion of the H19 gene region in mice Nature 375:34-39 (1995).
42. Dittrich B, Buiting K, Korn B, Rickard S, Buxton J, Saitoh S, Nicholls RD, Poustka A, Winterpacht A Zabel B, Horsthemke B. Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat Genet 14:163-170 (1996).
43. Knoll JH, Cheng SD, Lalande M Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region Nat Genet 6:41-46 (1994).
44. Kitsberg D, Selig S, Brandeis M, Simon I, Keshet I, Driscoll DJ, Nicholls RD, Cedar H. Allele-specific replication timing of imprinted gene regions. Nature 364:459-463 (1993).
45. Robinson WP, Lalande M. Sex-specific meiotic recombination in the Prader-Willi/Angelman syndrome imprinted region. Hum Mol Genet 4:801-806 (1995).
46. Tycko B. DNA methylation in genomic imprinting. Mutat Res 386:103-105 (1997).
47. Laird PW, Jaenisch R The role of DNA methylation in cancer genetics and epigenetics. Annu Rev Genet 30:441-464 (1996).
48. Razin A, Cedar H. DNA methylation and genomic imprinting Cell 77:473-476 (1994).
49. KIP2, a cyclin-dependent kinase inhibitor, in mouse. Nat Genet 11:204-206 (1995).
50. Hataca I, Kitagawa K, Yamaoka T, Wang X, Arai Y, Hashido K, Ohishi S, Masuda J, Ogata J, Mukai T. Allele-specific methylation and expression of an imprinted U2af1-rs1 (SP2) gene. Nucleic Acids Res 23:36-41 (1995).
51. Bartolomei MS, Webber AL, Brunkow ME, Tilghman SM. Epigenetic mechanisms underlying the imprinting of the mouse H19 gene. Genes Dev 7:1663-1673 (1993).
52. Ferguson-Smith AC, Sasaki H, Cattanach BM, Surani MA. Parental-origin-specific epigenetic modification of the mouse H19 gene. Nature 362:751-755 (1993).
53. Stöger R, Kubicka P, Liu CG, Kafri T, Razin A Cedar H, Barlow DP. Maternal-specific methylation of the imprinted mouse lgf2r locus identifies the expressed locus as carrying the imprinting signal. Cell 73:61-71 (1993).
54. Falls JG, Pulford DJ, Wylie AA, Jirtle RL. Genomic imprinting: implications for human disease. Am J Pathol 154:635-647 (1999).
55. MP2 and IPL, is imprinted in mice DNA Res 5:235-240 (1998).
56. Lee MP, Hu RJ, Johnson LA, Feinberg AP. Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiecemann syndrome chromosomal rearrangements. Nat Genet 15:181-185 (1997).
57. Mannens M, Alders M, Redeker B Bliek J, Steenman M, Wiesmeyer C, de Meulemeester M, Ryan A, Kalikin L, Voute T, et al Positional cloning of genes involved in the Beckwith-Wiedemann syndrome, hemihypertrophy, and associated childhood tumors. Med Pediatr Oncol 27:490-494 (1996).
58. Wang Q, Curran ME, Splawski I Burn TC, Millholland JM, VanRaay TJ, Shen J, Timothy KW, Vincent GM, de Jager T, et al. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet 12:17-23 (1996).
59. Hayashizaki Y, Shibata H, Hirotsune S, Sugino H, Okazaki Y, Sasaki N, Hirose K, Imoto H, Okuizumi H, Muramatsu M, et al. Identification of an imprinted U2af binding protein related sequence on mouse chromosome 11 using the RLGS method Nat Genet 6:33-40 (1994).
60. Hatada I, Sugama T, Mukai T. A new imprinted gene cloned by a methylation-sensitive genome scanning method. Nucleic Acids Res 21:5577-5582 (1993).
61. Kuroiwa Y, Kaneko-Ishino T, Kagitani F, Kohda T, Li LL, Tada M, Suzuki R, Yokoyama M, Shiroishi T, Wakana S, et al. Peg3 imprinted gene on proximal chromosome 7 encodes for a zinc finger protein. Nat Genet 12:186-190 (1996).
62. Kaneko-Ishino T, Kuroiwa Y, Miyoshi N, Kohda T, Suzuki R, Yokoyama M, Viville S, Barton SC, Ishino F Surani MA. Peg1/Mest imprinted gene on chromosome 6 identified by cDNA subtraction hybridization. Nat Genet 11:52-59 (1995).
63. Plass C, Shibata H, Kalcheva I, Mullins L, Kotelevtseva N, Mullins J, Kato R, Sasaki H, Hirotsune S, Okazaki Y, Held WA, Hayashizaki Y, Chapman VM. Identification of Grf1 on mouse chromosome 9 as an imprinted gene by RLGS-M. Nat Genet 14:106-109 (1996).
64. Meguro M, Mitsuya K, Sui H, Shigenami K, Kugoh H, Nakao M, Oshimura M Evidence for uniparental, paternal expression of the human GABAA receptor subunit genes, using microcell-mediated chromosome transfer. Hum Mol Genet 6:2127-2133 (1997).
65. Haig D. Multiple paternity and genomic imprinting. Genetics 151:1229-1231 (1999).
66. Hurst LD, McVean GT. Growth effects of uniparental disomies and the conflict theory of genomic imprinting. Trends Genet 13:436-443 (1997).
67. Thomas JH. Genomic imprinting proposed as a surveillance mechanism for chromosome loss. Proc Natl Acad Sci USA 92:480-482 (1995).
68. Varmuza S, Mann M. Genomic imprinting - defusing the ovaran time bomb. Trends Genet 10:118-123 (1994).
69. Bestor TH, Tycko B. Creation of genomic methylation patterns. Nat Genet 12:363-367 (1996).
70. Jaenisch R, Schnieke A, Harbers K Treatment of mice with 5-azacytidine efficiently activates silent retroviral genomes in different tissues. Proc Natl Acad Sci USA 82:1451-1455 (1985).
71. Haig D, Graham C. Genomic imprinting and the strange case of the insulin-like growth factor II receptor. Cell 64:1045-1046 (1991).
72. Bartolomei MS, Zemel S, Tilghman SM. Parental imprinting of the mouse H19 gene. Nature 351:153-155 (1991).
73. DeChiara TM, Efstratiadis A, Robertson EJ. A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting Nature 345:78-80 (1990).
74. Miyoshi N, Kuroiwa Y, Kohda T, Shitara H, Yonekawa H, Kawabe T, Hasegawa H, Barton SC, Surani MA, Kaneko-Ishino T, et al. Identification of the Meg1/Grb10 imprinted gene on mouse proximal chromosome 11, a candidate for the Silver-Russell syndrome gene. Proc Natl Acad Sci USA 95:1102-1107 (1998).
75. Li L, Keverne EB, Aparicio SA, Ishino F, Barton SC, Surani MA. Regulation of maternal behavior and offspring growth by paternally expressed Peg3. Science 284:330-333 (1999).
76. Lefebvre L, Vivilie S, Barton SC, Ishino F, Keverne EB, Surani MA. Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest. Nat Genet 20:163-169 (1998).
77. Vrana PB, Guan XJ, Ingram RS, Tilghman SM. Genomic imprinting is disrupted in interspecific Peromyscus hybrids. Nat Genet 20:362-365 (1998).
78. Hall JG. Genomic imprinting: nature and clinical relevance. Annu Rev Med 48:35-44 (1997).
79. Lalande M. Parental imprinting and human disease Annu Rev Genet 30:173-195 (1996).
80. Ward A. Beck-Wiedemann syndrome and Wilms' tumour. Mol Hum Reprod 3:157-168 (1997).
81. Joyce JA, Lam WK, Catchpoole DJ, Jenks P, Reik W, Maher ER, Schofield PN. Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-Wiedemann syndrome. Hum Mol Genet 6:1543-1548 (1997).
82. Weksberg R, Shen DR, Fei YL, Song QL, Squire J. Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome. Nat Genet 5:143-150 (1993).
83. Catchpoole D, Lam WW, Valler D, Temple IK, Joyce JA, Reik W, Schofield PN, Maher ER Epigenetic modification and uni-parenta inheritance of H19 in Beckwith-Wiedemann syndrome. G Med Genet 34:353-359 (1997).
84. Reik W, Brown KW, Schneid H, Le Bouc Y, Bickmore W, Maher ER Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain Hum Mol Genet 4:2379-2385 (1995).
85. Brown KW, Villar AJ, Bickmore W, Clayton-Smith J, Catchpoole D, Maher ER, Reik W. Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway. Hum Mol Genet 5:2027-2032 (1996).
86. Sun FL, Dean WL, Kelsey G, Allen NO Reik W. Transactivation of lgf2 in a mouse model of Beckwith-Wiedemann syndrome. Nature 389:809-815 (1997).
87. Nicholls RD, Saitoh S, Horsthemke B. Imprinting in Prader-Willi and Angelman syndromes Trends Genet 14:194-200 (1998).
88. Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholas RD, Horsthemke B. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet 9:395-400 (1995).
89. Reis A, Dittrich B, Greger V, Buiting K, Lalande M, Gillessen-Kaesbach G, Anvret M, Horsthemke B. Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes Am J Hum Genet 54:741-747 (1994).
90. Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, Ledbetter DH, Beaudet AL. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat Genet 8:52-58 (1994).
91. Glenn CC, Nicholls RD, Robinson WP, Saitoh S, Njikawa N, Schinzel A, Horsthemke B, Driscoll DJ. Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. Hum Mol Genet 2:1377-1382 (1993).
92. Gray TA, Saitoh S, Nicholls RD An imprinted, mammalian bicistronic transcript encodes two independent proteins. Proc Natl Acad Sci USA 96:5616-5621 (1999).
93. Fang P, Lev-Lehman E, Tsai TF, Matsuura T, Benton CS, Sutcliffe JS, Christian SL, Kubota T, Halley DJ, Meijers-Heijboer H, et al. The spectrum of mutations in UBE3A causing Angelman syndrome. Hum Mol Genet 8:129-135 (1999).
94. Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, Rommens JM, Beaudet AL de Novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet 15:74-77 (1997).
95. Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 15:70-73 (1997).
96. Rougeulie C, Glatt H, Lalande M. The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. Nat Genet 17:14-15 (1997).
97. Vu TH, Hoffman AR. Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. Nat Genet 17:12-13 (1997).
98. Albrecht U, Sutcliffe JS, Cattanach BM, Beechey CV, Armstrong D, Eichele G, Beaudet AL. Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Nat Genet 17:75-78 (1997).
99. Ohta T, Buiting K, Kokkonen H, McCandless S, Heeger S, Leisti H, Driscoll DJ, Cassidy SE, Horsthemke B, Nicholls RD. Molecular mechanism of Angelman syndrome in two large families involves an imprinting mutation. Am J Hum Genet 64:385-396 (1999).
100. Saitoh S, Buiting K, Rogan PK, Buxton JL, Driscoll DJ, Arnemann J, Konig R, Malcolm S, Horsthemke B, Nicholls RD. Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations Proc Natl Acad Sci USA 93:7811-7815 (1996).
101. Fārber C Dittrich B, Buiting K Horsthemke B. The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion. Hum Mol Genet 8:337-343 (1999).
102. Spotila LD, Sereda L, Prockop DJ. Partial isodisomy for maternal chromosome 7 and short statute in an individual with a mutation at the COL1A2 locus. Am J Hum Genet 51:1396-1405 (1992).
103. Mateo M, Mollejo M, Villuendas R, Algara P, Sanchez-Beatc M, Martinez P, Piris MA. 7q31-32 allelic loss is a frequent finding in splenic marginal zone lymphoma. Am J Pathol 154:1583-1589 (1999).
104. Moore T, Haig D Genomic imprinting in mammalian development: a parental tug-of-war. Trends Genet 7:45-49 (1991).
105. Skuse DH, James RS, Bishop DVM, Coppin B, Dalton P, Aamodt-Leeper G, Bacarese-Hamilton M, Creswell C, McGurk R, Jacobs PA. Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function. Nature 387:705-708 (1997).
106. McCauley E, Kay T, Ito J, Treder R. The Turner syndrome: cognitive deficits, affective discrimination, and behavior problems. Child Dev 58:464-473 (1987).
107. McCauley E, Ito J, Kay T Psychosocial functioning in girls with Turner's syndrome and short stature: social skills, behavior problems, and self-concept. J Am Acad Child Psychiatry 25:105-112 (1986).
108. Miller AP, Willard HF Chromosomal basis of X chromosome inactivation: identification of a multigene domain in Xp11.21-p11 22 that escapes X inactivation. Proc Natl Acad Sci USA 95:8709-8714 (1998).
109. Grigoroiu-Serbanescu M, Wickramaratne PJ, Hodge SE, Milea S, Mihailescu R Genetic anticipation and imprinting in bipolar I illness. Br J Psychiatry 170:162-166 (1997).
110. Kato T, Winokur G, Coryell W, Keller MB, Endicott J, Rice J. Parent-of-origin effect in transmission of bipolar disorder. Am J Med Genet 67:546-550 (1996).
111. McMahon FJ, Stine OC, Meyers DA, Simpson SG, DePaulo JR Patterns of maternal transmission in bipolar affective disorder Am J Hum Genet 56:1277-1286 (1995).
112. Ohara K, Xu HD, Mori N, Suzuki Y, Xu DS, Wang ZC. Anticipation and imprinting in schizophrenia. Biol Psychiatry 42:760-766 (1997).
113. Asherson P, Walsh C, Williams J, Sargeant M, Taylor C, Clements A, Gill M, Owen M, McGuffin P. Imprinting and anticipation. Are they relevant to genetic studies of schizophrenia? Br J Psychiatry 164:619-624 (1994).
114. Cook EH Jr, Lincgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C, Lord C, Courchesne E. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet 60:928-934 (1997).
115. Morison IM, Reeve AE. A catalogue of imprinted genes and parent-of-origin effects in humans and animals. Hum Mol Genet 7:1599-1609 (1998).
116. Counts JL, Goodman JI. Alterations in DNA methylation may play a variety of roles in carcinogenesis. Cell 83:13-15 (1995).
117. Hendrich BD, Huntington FW. Epigenetic regulation of gene expression: the effect of altered chromatin structure from yeast to mammals. Hum Mol Genet 4:1765-1777 (1995).
118. Cui H, Horon IL, Ohlsson R, Hamilton SR, Feinberg AP. Loss of imprinting in normal tissue of colorectal cancer patients with microsatellite instability. Nat Med 4:1276-1280 (1998).
119. Bates P, Fisher R, Ward A, Richardson L, Hill DJ, Graham CF. Mammary cancer in transgenic mice expressing insulin-like growth factor II (IGF-II). Br J Cancer 72:1189-1193 (1995).
120. Rogler CE, Yang D, Rossetti L, Donohoe J, Alt E, Chang CJ, Rosenfeld R, Neely K, Hintz R. Altered body composition and increased frequency of diverse malignancies in insulin-like growth factor-II transgenic mice. J Biol Chem 269:13779-13784 (1994).
121. Steenman MJC, Rainier S, Dobry CJ, Grundy P, Horon IL, Feinberg AP. Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumour. Nat Genet 7:433-439 (1994).
122. Ogawa O, Eccles MR, Szeto J, McNoe LA, Yun K, Maw MA, Smith PJ, Reeve AE. Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour. Nature 362:749-751 (1993).
123. Rainier S, Johnson LA, Dobry CJ, Ping AJ, Grundy PE, Feinberg AP. Relaxation of imprinted genes in human cancer. Nature 362:747-749 (1993).
124. Yamada T, De Souza AT, Finkelstein S, Jirtle RL. Loss of the gene encoding mannose 6-phosphate/insulin-like growth factor II receptor is an early event in liver carcinogenesis. Proc Natl Acad Sci USA 94:10351-10355 (1997).
125. Hankins GR, De Souza AT, Bentley RC, Patel MR, Marks JR, Iglehart JD, Jirtle RL. M6P/IGF2 receptor: a candidate breast tumor suppressor gene. Oncogene 12:2003-2009 (1996).
126. De Souza AT, Hankins GR, Washington MK, Fine RL, Orton TC, Jirtle RL. Frequent loss of heterozygosity on 6q at the mannose 6-phosphate/insulin-like growth factor II receptor locus in human hepatocellular tumors. Oncogene 10:1725-1729 (1995).
127. De Souza AT, Hankins GR, Washington MK, Orton TC, Jirtle RL. M6P/IGF2R gene is mutated in human hepatocellular carcinomas with loss of heterozygosity. Nat Genet 11:447-449 (1995).
128. Piao Z, Choi Y, Park C, Lee WJ, Park JH, Kim H. Deletion of the M6P/IGF2r gene in primary hepatocellular carcinoma. Cancer Lett 120:39-43 (1997).
129. Mills JJ, Falls JG, De Souza AT, Jirtle RL. Imprinted M6p/lgf2 receptor is mutated in rat liver tumors. Oncogene 16:2797-2802 (1998).
130. Leung SY, Chan TL, Chung LP, Chan AS, Fan YW, Hung KN, Kwong WK, Ho JW, Yuen ST. Microsatellite instability and mutation of DNA mismatch repair genes in gliomas. Am J Pathol 153:1181-1188 (1998).
131. Ouyang H, Shiwaku HO, Hagiwara H, Miura K, Abe T, Kato Y, Ohtani H, Shiiba K, Souza RF, Meitzer SJ, et al. The insulin-like growth factor II receptor gene is mutated in genetically unstable cancers of the endometrium, stomach, and colorectum Cancer Res 57:1851-1854 (1997).
132. Souza RF, Appel R, Yin J, Wang S, Smolinski KN, Abraham JM, Zou T-T, Shi Y-Q, Lei J, Cottrell J, et al. The insulin-like growth factor II receptor gene is a target of microsatellite instability in human gastrointestinal tumours. Nat Genet 14:255-257 (1996).
133. Kalscheuer VM, Mariman EC, Schepens MT, Rehder H, Ropers H-H The insulin-like growth factor type-2 receptor gene is imprinted in the mouse but not in humans. Nat Genet 5:74-78 (1993).
134. Ogawa O, McNoe LA, Eccles MR, Morison IM, Reeve AE. Human insulin-like growth factor type I and type II receptors are not imprinted. Hum Mol Genet 2:2163-2165 (1993).
135. Xu YQ, Gruncy P, Polychronakos C. Aberrant imprinting of the insulin-like growth factor II receptor gene in Wilms' tumor. Oncogene 14:1041-1046 (1997).
136. Knudson AG. Hereditary predisposition to cancer Ann NY Acad Sci 833:58-67 (1997).
137. Birger Y, Shemer R, Perk J, Razin A. The imprinting box of the mouse lgf2r gene. Nature 397:84-88 (1999).
138. Schmidt JV, Levorse JM, Tilghman SM. Enhancer competition between H19 and lgf2 does not mediate their imprinting. Proc Natl Acad Sci USA 96:9733-9738 (1999).
139. Wakimoto BT. Beyond the nucleosome: epigenetic aspects of position-effect variegation in Drosophila. Cell 93:321-324 (1998).
140. Chaillet JR, Bader DS, Leder P. Regulation of genomic imprinting by gametic and embryonic processes. Genes Dev 9:1177-1187 (1995).
141. Robertson KD, Uzvolgyi E, Liang G, Talmadge C, Sumegi J, Gonzales FA, Jones PA. The human DNA methyltransferases (ONMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors. Nucleic Acids Res 27:2291-2298 (1999).
142. Okano M, Xie S, Li E. Cloning and characterization of a family of novel mammalian DNA (cytosine-5) methyltransferases. Nat Genet 19:219-220 (1998).
143. Bestor T, Laudano A, Mattaliano R, Ingram V. Cloning and sequencing of a cDNA encoding DNA methyltransferase of mouse cells. The carboxyl-terminal domain of the mammalian enzymes is related to bacterial restriction methyltransferases. J Mol Biol 203:971-983 (1988).
144. Jones PA, Laird PW. Cancer epigenetics comes of age. Nat Genet 21:163-167 (1999).
145. Li E, Beard C, Jaenisch R. Role of DNA methylation in genomic imprinting. Nature 366:362-365 (1993).
146. Hu JF, Vu TH, Hoftman AR. Promoter-specific modulation of insulin-like growth factor II genomic imprinting by inhibitors of DNA methylation. J Biol Chem 271:18253-18262 (1996).
147. Smilinich NJ, Day CD, Fitzpatrick GV, Caldwell GM, Lossie AC, Cooper PR. Smallwood AC, Joyce JA, Schofield PN, Reik W, et al. 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 96:8064-8069 (1999).
148. Jones PA. The DNA methylation paradox. Trends Genet 15:34-37 (1999).
149. Wutz A, Smrzka OW, Schweifer N, Schellander K, Wagner EF, Barlow DP. Imprinted expression of the lgf2r gene depends on an intronic CpG island. Nature 389:745-749 (1997).
150. Bestor TH. Gene silencing. Methylation meets acetylation. Nature 393:311-312 (1998).
151. Hu JF, Oruganti H, Vu TH, Hoffman AR. The role of histone acetylation in the allelic expression of the imprinted human insulin-like growth factor II gene Biochem Biophys Res Commun 251:403-408 (1998).
152. Svensson K, Mattsson R, James TC, Wentzel P, Pilartz M, MacLaughlin J, Miller SJ, Olsson T, Eriksson UJ, Ohlsson R. The paternal allele of the H19 gene is progressively silenced during early mouse development the acetylation status of histones may be involved in the generation of variegated expression patterns. Development 125:61-69 (1998).
153. Jones PL, Veenstra GJ, Wade PA, Vermaak D, Kass SU, Landsberger N, Strouboulis J, Wolffe AP. Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription. Nat Genet 19:187-191 (1998).
154. Nan X, Ng HH, Johnson CA, Laherty CD, Turner BM, Eisenman RN, Bird A Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex Nature 393:386-389 (1998).
155. Struhl K. Histone acetylation and transcriptional regulatory mechanisms. Genes Dev 12:599-606 (1998).
156. Cameron EE, Bachman KE, Myohanen S, Herman JG, Baylin SB. Synergy of demethylation and histone deacetylase inhibition in the re-expression of genes silenced in cancer. Nat Genet 21:103-107 (1999).
157. Siegfried Z, Eden S, Mendelsohn M, Feng X, Tsuberi BZ, Cedar H. DNA methylation represses transcription in vivo. Nat Genet 22:203-206 (1999).
158. Cerda S, Weitzman SA. Influence of oxygen radical injury on DNA methylation. Mutat Res 386:141-152 (1997).
159. Nyce JW. Drug-induced DNA hypermethylation: a potential mediator of acquired drug resistance during cancer chemotherapy. Mutat Res 386:153-161 (1997).
160. Nyce J, Leonard S, Canupp D, Schulz S, Wong S. Epigenetic mechanisms of drug resistance: drug-induced DNA hypermethylation and drug resistance. Proc Natl Acad Sci USA 90:2960-2964 (1993).
161. Nyce J. Drug-induced DNA hypermethylation and drug resistance in human tumors. Cancer Res 49:5829-5836 (1989).
162. Darkin-Rattray SJ, Gurnett AM, Myers RW, Dulski PM, Crumley TM, Allocco JJ, Cannova C, Meinke PT, Colletti SL, Bednarek MA, et al. Apicidin a novel antiprotozoal agent that inhibits parasite histone deacetylase. Proc Natl Acad Sci USA 93:13143-13147 (1996).
163. Ohta T, Gray TA, Rogan PK, Buiting K, Gabriel JM, Saitoh S, Muralidhar B, Bilienska B, Krajewska-Walasek M, Driscoll DJ, et al. Imprinting-mutation mechanisms in Prader-Willi syndrome. Am J Hum Genet 64:397-413 (1999).
164. Schofield PN. Impact of genomic imprinting on genomic instability and radiation-induced mutation. Int J Radiat Biol 74:705-710 (1998).
165. Bunzel R, Blumcke I, Cichon S, Normann S, Schramm J, Prooping P. Nothen MM Polymorphic imprinting of the serotonin-2A (5-HT2A) receptor gene in human adult brain. Brain Res Mol Brain Res 59:90-92 (1998).
166. Nishiwaki K, Niikawa N, Ishikawa M. Polymorphic and tissue-specific imprinting of the human Wilms tumor gene, WT1. Jpn J Hum Genet 42:205-211 (1997).
167. 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 220:1014-1019 (1996).