Gametic imprinting in development and disease

Journal of Endocrinology

Volumn 155, Issue 1, 1997, Pages 1-12

  Lyle, R ^a  

^a NETHERLANDS CANCER INSTITUTE   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

SOMATOMEDIN C RECEPTOR;

ALLELE; BECKWITH WIEDEMANN SYNDROME; CANCER SUSCEPTIBILITY; CHROMOSOME TRANSLOCATION; DIPLOIDY; EMBRYO DEVELOPMENT; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC DISORDER; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; PARAGANGLIOMA; PARTHENOGENESIS; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; REVIEW; UNIPARENTAL DISOMY;

ANIMALS; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; FEMALE; GENOMIC IMPRINTING; GROWTH; HUMANS; MICE; OVARIAN NEOPLASMS; PARTHENOGENESIS; TERATOMA;

EID: 0030882213     PISSN: 00220795     EISSN: None     Source Type: Journal    
DOI: 10.1677/joe.0.1550001     Document Type: Review

References (139)

1. Barlow DP 1995 Gametic imprinting in mammals. Science 270 1610-1613.
2. Barlow DP, Stöger R, Herrmann BG, Saito K & Schweifer N 1991 The mouse insulin-like growth factor type 2 receptor is imprinted and closely linked to the Tme locus. Nature 349 84-87.
3. Bartolomei MS, Zemel S & Tilghman SM 1991 Parental imprinting of the mouse H19 gene. Nature 351 153-155.
4. Barton SC, Surani MAH & Norris ML 1984 Role of paternal and maternal genomes in mouse development. Nature 311 374-376.
5. Barton SC, Adams CA, Norris ML & Surani MAH 1985 Development of gynogenetic and parthenogenetic inner cell mass and trophectoderm tissues in reconstituted blastocysts in the mouse. Journal of Embryology and Experimental Morphology 90 267-285.
6. Barton SC, Fergnson-Smith AC, Fundele F & Surani MA 1991 Influence of paternally imprinted genes on development. Development 113 679-688.
7. Beechey CV & Cattanach BM 1996 Genetic imprinting map. Mouse Genome 94 96-99.
8. Bennett ST, Lucassen AM, Gough SCL, Powell EE, Undlien DE, Pritchard LE, Merriman ME, Kawaguchi Y, Dronsfield MJ, Pociot F, Nerup J, Bouzekri N, Cambon-Thomsen A, Rönningen KS, Barnett AH, Bain SC & Todd JA 1995 Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus. Nature Genetics 9 284-292.
9. Bowden L, Klose J & Reik W 1996 Analysis of parent-specific gene expression in early mouse embryos and embryonic stem cells using high-resolution two-dimensional electrophoresis of proteins. International Journal of Developmental Biology 40 499-506.
10. Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls RD & Horsthemke B 1995 Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting center on human chromosome 15. Nature Genetics 9 395-400.
11. Butler MG 1990 Prader-Willi syndrome: current understanding of cause and diagnosis. American Journal of Medical Genetics 35 319-335.
12. Buxton JL, Chan CTJ, Gilbert H, Claytonsmith J, Burn J, Pembrey M & Malcolm S 1994 Angelman syndrome associated with a maternal 15q11-13 deletion of less than 200 kb. Human Molecular Genetics 3 1409-1413.
13. Campbell R, Gosden CM & Bonthron DT 1994 Parental origin of transcription from the human GNAS1 gene. Journal of Medical Genetics 31 607-614.
14. Cattanach BM & Kirk M 1985 Differential activity of maternally and paternally derived chromosome regions in mice. Nature 315 496-498.
15. Cattanach BM &: Beechey CV 1990 Autosomal and X-chromosome imprinting. Development (Suppl) 63-72.
16. Cattanach BM, Barr JA, Evans EP, Burtenshaw M, Beechey CV, Leff SE, Brannan CI, Copeland NG, Jenkins NA & Jones J 1992 A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression. Nature Genetics 2 270-274.
17. Cattanach BM, Burtenshaw MD, Rasberry C & Evans EP 1993 Large deletions and other gross forms of chromosome imbalance compatible with viability and fertility in the mouse. Nature Genetics 3 56-61.
18. Christofori G, Naik P & Hanahan D 1994 A second signal supplied by insulin-like growth Factor II in oncogene tumorigenesis. Nature 369 414-418.
19. Christofori G, Naik P & Hanahan D 1995 Deregulation of both imprinted and expressed alleles of the insulin-like growth factor 2 gene during β-cell tumorigenesis. Nature Genetics 10 196-201.
20. Clark A 1990 Genetic imprinting in clinical genetics. Development (Suppl) 131-139.
21. Davies PO, Poirier C, Deltour L & Montagutelli X 1994 Genetic reassignment of the insulin 1 (Ins 1) gene to distal mouse chromosome 19. Genomics 21 665-667.
22. DeChiara TM, Efstratiadis A & Robertson EJ 1990 A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting. Nature 345 78-80.
23. DeChiara TM, Robertson EJ & Efstratiadis A 1991 Parental imprinting of the mouse insulin-like growth factor II gene. Cell 64 849-859.
24. Dennis PA & Rifkin DB 1991 Cellular activation of latent transforming growth factor β requires binding to the cation-independent mannose 6-phosphate/insulin-like growth factor type II receptor. Proceeding of the National Academy of Sciences of the USA 88 580-584.
25. De Souza AT, Hankins GR, Washington MK, Fine RL, Orton TC & Jirtle RL 1995a 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.
26. De Souza AT, Hankins GR, Washington MK, Orton TC & Jirtle RL 1995b M6p/IGF2R gene is mutated in human hepatocellular carcinomas with loss of heterozygosity. Nature Genetics 11 447-449.
27. Dittrich B, Robinson WP, Knoblauch H, Buiting K, Schmidt K, Gillessenkaesbach G & Horsthemke B 1992 Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. Human Genetics 90 313-315.
28. Dittrich B, Buiting K, Korn B, Rickard S, Buxton J, Saitoh S, Nicholls RD, Poustka A, Winterpacht A, Zabel B & Horsthemke B 1996 Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nature Genetics 14 163-170.
29. Dou-Crasy S, Barrois M, Fogel S, Ahomadegbe JC, Stéhelin D, Coll J & Riou G 1996 High incidence of loss of heterozygosity and abnormal imprinting of H19 and IGF2 genes in invasive cervical carcinomas. Uncoupling of H19 and IGF2 expression and biallelic hypomethylation of H19. Oncogene 12 423-430.
30. Driscoll DJ, Waters MF, Williams CA, Zori RT, Glenn CC, Avidano KM & Nicholls RD 1992 A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes. Genomics 13 917-924.
31. Elkin M, Shevelev A, Schulze E, Tykocinsky M, Cooper M, Ariel I, Pode D, Kopf E, Degroot N & Hochberg A 1995 The expression of the imprinted H19 and Igf-2 genes in human bladder carcinoma. FEBS Letters 374 57-61.
32. Elliott M & Maher ER 1994 Beckwith-Wiedemann syndrome. Journal of Medical Genetics 31 560-564.
33. Ellis MJC, Leav BA, Yang Z, Rasmussen A, Pearce A, Zweibel JA, Lippman ME & Cullen KJ 1996 Affinity for the insulin-like growth factor II receptor inhibits autocrine IGFII activity in MCF-7 breast cancer cells. Molecular Endocrinology 10 286-297.
34. Feinberg AP 1993 Genomic imprinting and gene activation in cancer. Nature Genetics 4 110-113.
35. Ferguson-Smith AC, Cattanach BM, Barton SC, Beechey CV & Surani MA 1991 Embryological and molecular investigations of parental imprinting on mouse chromosome 7. Nature 351 667-670.
36. KIP1-deficient mice. Cell 85 733-744.
37. Giannoukakis N, Deal C, Paquette J, Goodyer CG & Polychronakos C 1993 Parental genomic imprinting of the human IGF2 gene. Nature Genetics 4 98-101.
38. Giddings SJ, King CD, Harman KW, Flood JF & Carnaghi LR 1994 Allele-specific inactivation of insulin 1 and 2, in the mouse yolk sac, indicates imprinting. Nature Genetics 6 310-313.
39. Glenn CC, Nicholls RD, Robinson WP, Saitoh S, Niikawa N, Schinzel A, Horsthemke B & Driscoll DJ 1993a Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. Human Molecular Genetics 2 1377-1382.
40. Glenn CC, Porter KA, Jong MTC, Nicholls RD & Driscoll DJ 1993b Functional imprinting and epigenetic modification of the human SNRPN gene. Human Molecular Genetics 2 2001-2005.
41. Graham CF 1974 The production of parthenogenetic mammalian embryos and their use in biological research. Biological Reviews of the Cambridge Philosophical Society 49 399-422.
42. Guillemot F, Nagy A, Auerbach A, Rossant J & Joyner AL 1994 Essential role of Mash-2 in extraembryonic development. Nature 371 333-336.
43. Guillemot F, Caspary T, Tilghman SM, Copeland NG, Gilbert DJ, Jenkins NA, Anderson DJ, Joyner AL, Rossant J & Nagy A 1995 Genomic imprinting of Mash2, a mouse gene required for trophoblast development. Nature Genetics 9 235-242.
44. van Gurp RJHLM, Oosterhuis JW, Kalscheuer V, Mariman ECM & Looijenga LHJ 1994 Biallelic expression of the H19 and IGF2 genes in human testicular germ cell tumors, Journal of the National Cancer Institute 86 1070-1075.
45. Haig D 1994 Is human insulin imprinted? Nature Genetics 7 10.
46. Hall J 1990 Genomic imprinting: review and relevance to human diseases. American Journal of Human Genetics 46 857-873.
47. Hankins GR, Desouza AT, Bentley RC, Patel MR, Marks JR, Iglehart JD & Jirtle RL 1996 M6p/Igf2 receptor: a candidate breast tumor suppressor gene. Oncogene 12 2003-2009.
48. Hao Y, Crenshaw T, Moulton T, Newcomb E & Tycko B 1993 Tumor suppressor activity of H19 RNA. Nature 365 764-767.
49. Hardy K & Handyside AH 1996 Metabolism and cell allocation during parthenogenetic preimplantation mouse development. Molecular Reproduction and Development 43 313-322.
50. KIP2. a cyclin-dependent kinase inhibitor, in mouse. Nature Genetics 11 204-206.
51. Hatada I, Sugama T & Mukai T 1993 A new imprinted gene cloned by a methylation-sensitive genome scanning method. Nucleic Acids Research 21 5577-5582.
52. KIP2 is mutated in Beckwith-Wiedemann syndrome, Nature Genetics 14 171-173.
53. Healey S, Powell F, Battersby M, Chenevixtrench G & McGill J 1994 Distinct phenotype in maternal uniparental disomy of chromosome 14. American Journal of Medical Genetics 51 147-149.
54. Henry I, Bonaiti-Pellié C, Chehensee V, Beldjord C, Schwartz C, Utermann G & Junien C 1991 Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature 351 665-667.
55. Heutink P, van der Mey AGL, Sandkuijl LA, van Gils APG, Bardoel A, Breedveld GJ, van Vliet M, van Ommen G-JB, Cornelisse CJ, Oostra BA, Weber JL & Devilee P 1992 A gene subject to genoimic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter. Human Molecular Genetics 1 7-10.
56. Hibi K, Nakamura H, Hirai A, Fujikake Y, Kasai Y, Akiyama S, Ito K & Takagi H 1996 Loss of H19 imprinting in esophageal cancer. Cancer Research 56 480-482.
57. Hoovers JMN, Kalikin LM, Johnson LA, Alders M, Redeker B, Law DJ, Bliek J, Steenman M, Benedict M, Wiegant J, Lengauer C, Taillonmiller P, Schlessinger D, Edwards MC, Elledge SJ, Ivens A, Westerveld A, Little P, Mannens M & Feinberg AP 1995 Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments. Proceedings of the National Academy of Sciences of the USA 92 12456-12460.
58. Jacobs PA, Wilson CM, Sprenkle JA, Rosensheim NB & Migeon BR 1980 Mechanism of origin of complete hydatidiform moles. Nature 286 714-716.
59. Jarrard DF, Bussemakers MJG, Bova GS & Isaacs WB 1995 Regional loss of imprinting of the insulin-like growth factor II gene occurs in human prostate tissues. Clinical Cancer Research 1 1471-1478.
60. Jinno Y, Yun KK, Nishiwaki K, Kubota T, Ogawa O, Reeve AE & Niikawa N 1994 Mosaic and polymorphic imprinting of the WT1 gene in humans. Nature Genetics 6 305-309.
61. Johnson DR 1974 Hairpin-tail: a case of post-reductional gene action in the mouse egg? Genetics 76 795-805.
62. 4 zinc finger protein and its expression is regulated by genomic imprinting. American Journal of Human Genetics 53 697.
63. Junien C 1992 Beckwith-Wiedemann syndrome, tumorigenesis and imprinting. Current Opinions in Genetics and Development 2 431-438.
64. Kalscheuer VM, Mariman EC, Schepens MT, Rehder H & Ropers HH 1993 The insulin-like growth factor type 2 receptor gene is imprinted in the mouse but not in humans. Nature Genetics 5 74-78.
65. Kantko-Ishino T, Kuroiwa Y, Miyoshi N, Kohda T, Suzuki R, Yukoyama M, Viville S, Barton SC, Ishino F & Surani MA 1995 Peg1/Mest imprinted gene on chromosome 6 identified by cDNA subtraction hybridization. Nature Genetics 11 52-59.
66. Kato MV, Shimizu T, Nagayoshi M, Kaneko A, Sasaki MS & Ikawa Y 1996 Genomic imprinting of the human serotonin-receptor (HTR2) gene involved in development of retinoblastoma. American Journal of Human Genetics 59 1084-1090.
67. Kaufman MH, Barton SC & Surani MA 1977 Normal postimplantation development of mouse parthenogenetic embryos to the forelimb bud stage. Nature 265 53-55.
68. Kay GF, Penny GD, Patel D, Ashworth A, Brockdorff N & Rastan S 1993 Expression of Xist during mouse development suggests a role in the initiation of X chromosome inactivation. Cell 72 171-182.
69. Kennedy GC, German MS & Rutter WJ 1995 The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription. Nature Genetics 9 293-298.
70. Kitagawa K, Wang X, Hatada I, Yamaoka T, Nojima H, Inazawa J, Abe T, Mitsuya K, Oshimura M, Murata A, Monden M & Mukai T 1995 Isolation and mapping of human homologs of an imprinted mouse gene U2af1-rs1. Genomics 30 257-263.
71. Kitsberg D, Selig S, Brandeis M, Simon I, Keshet I, Driscoll DJ, Nicholls RD & Cedar H 1993 Allele-specific replication timing of imprinted gene regions. Nature 364 459-463.
72. KIP1. Cell 85 721-732.
73. Knoll JHM, Nicholls RD, Magenis RE, Graham JM, Lalande M & Latt SA 1989 Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. American Journal of Medical Genetics 32 285-290.
74. Knoll JHM, Nicholls RD, Magenis RE, Glatt K, Graham JM, Kaplan L & Lalande M 1990 Angelman syndrome: 3 molecular classes identified with chromosome 15q11q13-specific DNA markers. American Journal of Human Genetics 47 149-155.
75. Kondo M, Suzuki H, Ueda R, Osada H, Takagi K, Takahashi T & Takahashi T 1995 Frequent loss of imprinting of the H19 gene is often associated with its overexpression in human lung cancers. Oncogene 10 1193-1198.
76. KIP2 gene at 11p15-5. Oncogene 12 1365-1368.
77. Kornfeld S 1992 Structure and function of the mannose 6-phosphate/insulin-like growth factor II receptors. Annual Review of Biochemistry 61 307-330.
78. Kreidberg JA, Sariola H, Loring JM, Maeda M, Pelletier J, Housman D & Jaenisch R 1993 WT-1 is required for early kidney development. Cell 74 679-691.
79. Kuroiwa Y, Kaneko-Ishino T, Kagitani F, Kohda T, Li L-L, Tada M, Suzuki R, Yokoyama M, Shiroishi T, Wakana S, Barton SC, Ishino F & Surani MA 1996 Peg3 imprinted gene on proximal chromosome 7 encodes for zinc finger protein. Nature Genetics 12 186-190.
80. LaSalle JM & Lalande M 1996 Homologous association of oppositely imprinted chromosomal domains. Science 272 725-728.
81. Lau MMH, Stewart CEH, Liu ZY, Bhatt H, Rotwein P & Stewart CL 1994 Loss of the imprinted Igf2/cation-independent mannose 6-phosphate receptor results in fetal overgrowth and perinatal lethality. Genes and Development 8 2953-2963.
82. Ledbetter DH & Engel E 1995 Uniparental disomy in humans -development of an imprinting map and its implications for prenatal diagnosis. Human Molecular Genetics 4 1757-1764.
83. KIP2, a cyclin-dependent kinase inhibitor with unique domain structure and tissue distribution. Genes and Development 9 639-649.
84. Leff SE, Brannan CI, Reed ML, Ozcelik T, Francke U, Copeland NG & Jenkins NA 1992 Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region. Nature Genetics 2 259-264.
85. Leighton PA, Ingram RS, Eggenschwiler J, Efstratiadis A & Tilghman SM 1995a Disruption of imprinting caused by deletion of the H19 gene region in mice. Nature 375 34-39.
86. Leighton PA, Saam JR, Ingram RS, Stewart CL & Tilghman SM 1995b An enhancer deletion affects both H19 and Igf2 expression. Genes and Development 9 2079-2089.
87. Little M, Van Heyningen V & Hastie N 1991 Dads and disomy and disease. Nature 351 609-610.
88. McGrath J & Solter D 1984a Completion of mouse embryogenesis requires both the maternal and paternal genomes. Cell 37 179-183.
89. hp lethality in the mouse is nuclear, not cytoplasmic, defect. Nature 308 550-551.
90. McLaughlin KJ, Szabo P, Haegel H & Mann JR 1996 Mouse embryos with paternal duplication of an imprinted chromosome 7 region die at midgestation and lack placental spongiotrophoblast. Development 122 265-270.
91. Mann JR, Gadi I, Harbison ML, Abbondanzo SJ & Stewart CL 1990 Androgenetic mouse embryonic stem-cells are pluripotent and cause skeletal defects in chimeras - implications for genetic imprinting. Cell 62 251-260.
92. KIP1 Cdk inhibitor family, is a candidate tumor suppressor gene. Genes and Development 9 650-662.
93. KIP2, on chromosome 11p15. Proceedings of the National Academy of Sciences of the USA 93 3026-3030.
94. Meijers-Heijboer EJ, Sandkuijl LA, Brunner HG, Smeets HJM, Hoogeboom AJM, Deelen WH, Vanhemel JO, Nelen MR, Smeets D, Niermeijer MF & Halley DJJ 1992 Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome. Journal of Medical Genetics 29 853-857.
95. Moore T & Haig D 1991 Genomic imprinting in mammalian development: A parental tug-of-war. Trends in Genetics 7 45-49.
96. Morison IM, Becroft DM, Taniguchi T, Woods CG & Reeve AE 1996 Somatic overgrowth associated with overexpression of insulin-like growth factor II. Nature Medicine 2 311-316.
97. Moulton T, Crenshaw T, Hao Y, Moosikasuwan J, Lin N, Dembitzer F, Hensle T, Weiss L, McMorrow L, Loew T, Kraus W, Gerald W & Tycko B 1994 Epigenetic lesions at the H19 locus in Wilms' tumor patients. Nature Genetics 7 440-447.
98. KIP1 display increased body size, multiple organ hyperplasia, retinal dysplasia, and pituitary tumors. Cell 85 707-720.
99. Nicholls RD, Knoll JHM, Butler MG, Karami S & Lalande M 1989a Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature 342 281-285.
100. Nicholls RD, Knoll JHM, Glatt K, Hersh JH, Brewster TD, Graham JM, Wurster-Hill D, Wharton R & Latt SA 1989b Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome. American Journal of Medical Genetics 33 66-77.
101. Nishita Y, Yoshida I, Sado T & Takagi N 1996 Genomic imprinting and chromosomal location of the human MEST gene. Genomics 36 539-542.
102. Ogawa O, Becroft DM, Morison IM, Eccles MR, Skeen JE, Mauger DC & Reeve AE 1993a Constitutional relaxation of insulin-like growth factor II gene imprinting associated with Wilms' tumor and gigantism. Nature Genetics 5 408-412.
103. Ogawa O, Eccles MR, Szeto J, McNoe LA, Yun K, Maw MA, Smith PJ & Reeve AE 1993b Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour. Nature 362 749-751.
104. Ogawa O, McNoe LA, Eccles MR, Morison IM & Reeve AE 1993c Human insulin-like growth factor type-I and type-II receptors are not imprinted. Human Molecular Genetics 2 2163-2165.
105. Ohlsson R, Nyström A, Pfeifer-Ohlsson S, Töhönen V, Hedborg F, Schofield P, Flam F & Ekström TJ 1993 IGF2 is parentally imprinted during human embryogenesis and in the Beckwith-Wiedemann syndrome. Nature Genetics 4 94-97.
106. Özçelik T, Leff S, Robinson W, Donlon T, Lalande M, Sanjines E, Schinzel A & Francke U 1992 Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nature Genetics 2 265-269.
107. Paldi A, Gyapay G & Jami J 1995 Imprinted chromosomal regions of the human genome display sex-specific meiotic recombination frequencies. Current Biology 5 1030-1035.
108. Pilia G, Hughes-Benzie RM, Mackenzie A, Baybayan P, Chen EY, Huber R, Neri G, Cao A, Forabosco A & Schlessinger D 1996 Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nature Genetics 12 241-247.
109. 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 V 1996 Identification of Grf1 on mouse chromosome 9 as an imprinted gene by RLGS-M. Nature Genetics 14 106-109.
110. Rainier S, Johnson LA, Dobry CJ, Ping AJ, Grundy PE & Feinberg AP 1993 Relaxation of imprinted genes in human cancer. Nature 362 747-749.
111. Razin A & Cedar H 1994 DNA methylation and genomic imprinting. Cell 77 473-476.
112. Reed ML & Leff SE 1994 Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome, Nature Genetics 6 163-167.
113. Reik W, Brown KW, Schneid H, Lebouc Y, Bickmore W & Maher ER 1995 Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2-H19 domain. Human Molecular Genetics 4 2379-2385.
114. Reis A, Dittrich B, Greger V, Buiting K, Lalande M, Gillessenkaesbach G, Anvret M & Horsthemke B 1994 Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. American Journal of Human Genetics 54 741-747.
115. Riesewijk AM, Schepens MT, Welch TR, Vandenbergloonen EM, Mariman EM, Ropers HH & Kalscheuer VM 1996 Maternal-specific methylation of the human IGF2R gene is not accompanied by allele-specific transcription. Genomics 31 158-166.
116. Saitoh S, Buiting K, Rogan PK, Buxton JL, Driscoll DJ, Arnemann J, Konig R, Malcolm S, Horsthemke B & Nicholls RD 1996 Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations. Proceedings of the National Academy of Sciences of the USA 93 7811-7815.
117. Smrzka OW, Fae I, Stöger R, Kurzbauer R, Fischer GF, Henn T, Weith A & Barlow DP 1995 Conservation of a maternal-specific methylation signal at the human IGF2R locus. Human Molecular Genetics 4 1945-1952.
118. Souza RF, Appel R, Yin J, Wang S, Smolinski KN, Abraham JM, Zou T-T, Shi Y-Q, Lei J, Cottrell J, Cymes K, Biden K, Simms L, Leggett B, Lynch PM, Frazier M, Powell SM, Harpaz N, Sugimura H, Young J & Meltzer SJ 1996 Microsatellite instability in the insulin-like growth factor II receptor gene in gastrointestinal tumours. Nature Genetics 14 255-257.
119. Spotila LD, Sereda L & Prockop DJ 1992 Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at COLIA2 locus. American Journal of Human Genetics 51 1396-1405.
120. Steenman MJC, Rainier S, Dobry CJ, Grundy P, Horon IL & Feinberg AP 1994 Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumor. Nature Genetics 7 433-439.
121. Surani MAH & Barton SC 1983 Development of gynogenetic eggs in the mouse - implications for parthenogenetic embryos. Science 222 1034-1036.
122. Surani MAH, Barton SC & Norris ML 1984 Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis. Nature 308 548-550.
123. Surani MAH, Barton SC & Norris ML 1986 Nuclear transplantation in the mouse: heritable differences between parental genomes after activation of the embryonic genome. Cell 45 127-136.
124. Surani MAH, Barton SC & Norris ML 1987 Influence of parental chromosomes on spatial specificity in androgenetic↔ parthenogenetic chimeras in the mouse. Nature 326 395-397.
125. Surti U, Hoffner L, Chakravarti A & Ferrell RE 1990 Genetics and biology of human ovarian teratomas1. Cytogenetic analysis and mechanism of origin. American journal of Human Genetics 47 635-643.
126. Sutcliffe JS, Nakao M, Christian S, Örstavik KH, Tommerup N, Ledbetter DH & Beaud 1994 Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nature Genetics 8 52-58.
127. Suzuki H, Ueda R, Takahashi T & Takahashi T 1994 Altered imprinting in lung cancer, Nature Genetics 6 332-333.
128. Takeda S, Kondo M, Kumada T, Koshikawa T, Ueda R, Nishio M, Osada H, Suzuki H, Nagatake M, Washimi O, Takagi K, Takahashi T, Nakao A & Takahashi T 1996 Allelic-expression imbalance of the insulin-like growth factor 2 gene in hepatocellular carcinomas and underlying disease. Oncogene 12 1589-1592.
129. Varmuza S & Mann M 1994 Genomic imprinting - defusing the ovarian time bomb. Trends in Genetics 10 118-123.
130. Villar AJ & Pedersen RA 1994 Parental imprinting of the Mas protooncogene in mouse. Nature Genetics 8 373-379.
131. Wagstaff J, Knoll JHM, Glatt KA, Shugart YY, Sommer A & Lalande M 1992 Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression. Nature Genetics 1 291-294.
132. Wang ZQ, Fun MR, Barlow DP & Wagner EF 1994 Regulation of embryonic growth and lysosomal targeting by the imprinted Igf2/Mpr gene. Nature 372 464-467.
133. Weksberg R, Shen DR, Fei YL, Song QL & Squire J 1993 Disruption of insulin-like growth factor II imprinting in Beckwith-Wiedemann syndrome. Nature Genetics 5 143-149.
134. Wevrick R, Kerns JA & Francke U 1994 Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. Human Molecular Genetics 3 1877-1882.
135. Williamson CM, Schofield J, Dutton ER, Seymour A, Beechey CV, Edwards YH & Peters J 1996 Glomerular-specific imprinting of the mouse Gsa gene: how does this relate to hormone resistance in Albright hereditary osteodystrophy? Genomics 36 280-287.
136. Xu YQ, Goodyer CG, Deal C & Polychronakos C 1993 Functional polymorphism in the parental imprinting of the human IGF2R gene. Biochemical and Biophysical Research Communication 197 747-754.
137. Zhan SL, Shapiro DN & Helman LJ 1994 Activation of an imprinted allele of the insulin-like growth factor II gene implicated in rhabdomyosarcoma. Journal of Clinical Investigation 94 445-448.
138. Zhan SL, Shapiro DN & Helman LJ 1995 Loss of imprinting of IGF2 in Ewing's sarcoma. Oncogene 11 2503-2507.
139. Zori RT, Hendrickson J, Woolven S, Whidden EM, Gray B & Williams CA 1992 Angelman syndrome: clinical profile. Journal of Child Neurology 7 270-280.