Imprinted genes and their role in human fetal growth

Cytogenetic and Genome Research

Volumn 113, Issue 1-4, 2006, Pages 262-270

  Abu Amero, S ^a   Monk, D ^a   Apostolidou, S ^a   Stanier, P ^a   Moore, G ^a  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CELL COUNT; CELL SIZE; CHROMOSOME 11; CHROMOSOME 14; CHROMOSOME 15; CHROMOSOME 16; CHROMOSOME 6; CHROMOSOME 7; CONFERENCE PAPER; CONFLICT; ENVIRONMENTAL FACTOR; EUTHERIAN; FETUS; FETUS GROWTH; GENETICS; GENOME IMPRINTING; GESTATION PERIOD; HEREDITY; HUMAN; MAMMAL; METATHERIAN; PARENT OF ORIGIN EFFECT; PLANT; PRIORITY JOURNAL; REPRODUCTION;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN; FETAL DEVELOPMENT; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENOMIC IMPRINTING; HUMANS;

EUTHERIA; MAMMALIA; METATHERIA; POLLACHIUS POLLACHIUS;

EID: 33645460608     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000090841     Document Type: Conference Paper

References (117)

1. Abu-Amero S, Price S, Wakeling E, Stanier P, Trembath R, Preece MA, Moore GE: Lack of hemizygosity for the insulin-like growth factor I receptor gene in a quantitative study of 33 Silver Russell syndrome probands and their families. Eur J Hum Genet 5:235-241 (1997).
2. Abu-Amero SN, Ali Z, Bennett P, Vaughan JI, Moore GE: Expression of the insulin-like growth factors and their receptors in term placentas: a comparison between normal and IUGR births. Mol Reprod Dev 49:229-235 (1998).
3. Abu-Amero SN, Ali Z, Abu-Amero KK, Stanier P, Moore GE: An analysis of common isodisomic regions in five mUPD 16 probands. J Med Genet 36:1-4 (1999).
4. Andres RL, Kuyper W, Resnik R, Piacquadio KM, Benirschke K: The association of maternal floor infarction of the placenta with adverse perinatal outcome. Am J Obstet Gynecol 163:935-938 (1990).
5. Arnaud P, Monk D, Hitchins M, Gordon E, Dean W, Beechey CV, Peters J, Craigen W, Preece M, Stanier P, Moore GE, Kelsey G: Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark. Hum Mol Genet 12:1005-1019 (2003).
6. Baird J, Osmond C, MacGregor A, Snieder H, Hales CN, Philips DI: Testing the fetal origins hypothesis in twins: the Birmingham twin study. Diabetologia 44:33-39 (2001).
7. Barker DJ: Fetal growth and adult disease. Br J Obstet Gynaecol 99:275-276 (1992).
8. Barker DJP: The malnutritioned baby and infant. Br Med Bull 60:69-88 (2001).
9. Barlow DP: Methylation and imprinting: from host defence to gene regulation? Science 260:309-310 (1993).
10. Barton SC, Surani MA, Norris ML: Role of paternal and maternal genomes in mouse development. Nature 311:374-376 (1984).
11. Beechey CV: Peg1/MEST locates distal to the currently defined imprinting region on mouse proximal chromosome 6 and identifies a new imprinting region affecting growth. Cytogenet Cell Genet 90:309-314 (2000).
12. Bentley L, Nakabayashi K, Monk D, Beechey C, Peters J, Birjandi Z, et al: The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver Russell syndrome. J Med Genet 40:249-256 (2003). Erratum in J Med Genet 41: 640 (2004).
13. Blagitko N, Schulz U, Schinzel AA, Ropers HH, Kalscheuer VM: Gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome. Hum Mol Genet 8:2387-2396 (1999).
14. Blagitko N, Mergenthaler S, Schulz U, Wollman HA, Craigen W, Eggermann T, Ropers HH, Kalscheuer VM: Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform- specific fashion. Hum Mol Genet 9:1587-1595 (2000).
15. Botero D, Lifshitz F: Intrauterine growth retardation and long term effects on growth. Curr Opin Pediatr 11:340-347 (1999).
16. Burton JB, Jauniaux E, Watson AL: Influence of oxygen supply on placental structure, in O'Brien S, Wheeler PM, Barker DJP (eds): Fetal Programming: Influences on Development and Disease in Later Life, pp 328-330 (RCOG, London 1999).
17. Cance-Rouzaud A, Laborie S, Bieth E, Tricoire J, Rolland M, Grandjean H, Rochiccioli P, Tauber M: Growth hormone, insulin-like growth factor-1 and insulin like growth factor binding protein-3 are regulated differently in small-for-gestational-age and appropriate-for-gestational-age neonates. Biol Neonate 73:347-355 (1998).
18. Cassidy SB, Dykens E, Williams CA: Prader-Willi and Angelman syndromes: sister imprinted disorders. Am J Med Genet 97:136-146 (2000).
19. Cattanach BM, Kirk M: Differential activity of maternally and paternally derived chromosome regions in mice. Nature 315:496-498 (1985).
20. Chan Y, Silverman N, Jackson L, Wapner R, Wallerstein R: Maternal uniparental disomy of chromosome 16 and body stalk anomaly. Am J Med Genet 94:284-286 (2000).
21. Chauvel PJ, Moore CM, Haslam RH: Trisomy-18 mosaicism with features of Russell-Silver syndrome. Dev Med Child Neurol 17:220-224 (1975).
22. Clausson B, Lichtenstein P, Cnattingius S: Genetic influence on birthweight and gestational length determined by studies in offspring of twins. Br J Obstet Gynaecol 107:375-381 (2000).
23. Cotter PD, Kaffe S, McCurdy LD, Jhaveri M, Willner JP, Hirschhorn K: Paternal uniparental disomy for chromosome 14: a case report and review. Am J Med Genet 70:74-79 (1997).
24. Dahms NM, Hancock MK: P-type lectins. Biochim Biophys Acta 1572:317-340 (2002).
25. Deltour L, Montagutelli X, Guenet J-L, Jami J, Pàldi A: Tissue- and developmental stage-specific imprinting of the mouse proinsulin gene, Ins2. Dev Biol 168:686-688 (1995).
26. Eggermann T, Eggermann K, Mergenthaler S, Kuner R, Kaiser P, Ranke MB, Wollmann HA: Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome. J Med Genet 35:784-786 (1998).
27. Eggermann T, Curtis M, Zerres K, Hughes HE: Maternal uniparental disomy 16 and genetic counseling: new case and survey of published cases. Genet Couns 15:183-190 (2004).
28. Engel JR, Smallwood A, Harper A, Higgins MJ, Oshimura M, Reik W: Epigenotype-phenotype correlations in Beckwith-Weidemann syndrome. J Med Genet 37:921-926 (2002).
29. Filson AJ, Louvi A, Efstratiadis A, Robertson EJ: Rescue of the T-associated maternal effect in mice carrying null mutations in Igf-2 and Igf2r, two reciprocally imprinted genes. Development 118:731-736 (1993).
30. Fisher AM, Thomas NS, Cockwell A, Stecko O, Kerr B, Temple IK, Clayton P: Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation. Hum Genet 111:290-296 (2002).
31. Frank D, Fortino W, Clark L, Musalo R, Wang W, Saxena A, Li CM, Reik W, Ludwig T, Tycko B: Placental overgrowth in mice lacking the imprinted gene Ipl. Proc Natl Acad Sci USA 99:7490-7495 (2002).
32. Gardner RJ, Mackay DJG, Mungall AJ, Polychronakos C, Siebert R, Shield JPH, Temple K, Robinson DP: An imprinted locus associated with transient neonatal diabetes mellitus. Hum Mol Genet 9:589-596 (2000).
33. Georgiades P, Watkins M, Surani MA, Ferguson-Smith AC: Parental origin-specific developmental defects in mice with uniparental disomy for chromosome 12. Development 127:4719-4728 (2000).
34. Giannoukakis N, Deal C, Paquette J, Goodyer CG, Polychronakos C: Parental genomic imprinting of the human IGF2 gene. Nat Genet 4:98-101 (1993).
35. Giddings S, King C, Harman K, Flood J, Carnaghi L: Allele specific inactivation of insulin 1 and 2, in the mouse yolk sac, indicates imprinting. Nat Genet 6:310-313 (1994).
36. Hatada I, Ohashi H, Fukushima Y, Kaneko Y, Inoue M, Komoto Y, Okada A, Ohishi S, Nabetani A, Morisaki H, Nakayama M, Niikawa N, Mukai T: An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome. Nat Genet 14:171-173 (1996).
37. Hitchins MP, Monk D, Bell GM, Ali Z, Preece MA, Stanier P, Moore GE: Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome. Eur J Hum Genet 9:82-90 (2001a).
38. Hitchins M, Stanier P, Preece M, Moore GE: Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions. J Med Genet 38:810-819 (2001b).
39. Hitchins MP, Abu-Amero S, Apostolidou S, Monk D, Stanier P, Preece MA, Moore GE: Investigation of the GRB2, GRB7 and CSH1 genes as candidates for the Silver-Russell syndrome (SRS) on chromosome 17q. J Med Genet 39:E13 (2002a).
40. Hitchins MP, Bentley L, Monk D, Beechey C, Peters J, Kelsey G, Ishino F, Preece MA, Stanier P, Moore GE: DDC and COBL, flanking the imprinted GRB10 gene on 7p12, are biallelically expressed. Mamm Genome 13:686-691 (2002b).
41. Hitschold T, Weiss E, Beck T, Hunterfering H, Berle P: Low target birthweight or growth retardation? Umbilical Doppler flow velocity waveforms and histometric analysis of the fetoplacental vascular tree. Am J Obstet Gynecol 168:1260-1264 (1993).
42. Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, Greenberg F: Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 91:398-402 (1993).
43. Howatson AG: Fetal and human pathology, in Hillier SG, Kitchener HC, Neilson JP (eds): Scientific Essentials of Reproductive Medicine, pp 421-423 (WB Saunders, London 1996).
44. Jackson MR, Walsh AJ, Morrow RJ, Mullen BJ, Lye SJ, Ritchie JWK: Reduced placental villous tree elaboration in small-for-gestational-age newborn pregnancies: relationship with umbilical artery Doppler waveforms. Am J Obstet Gynecol 172:518-525 (1995).
45. Jirtle RL: Mannose 6-phosphate receptors, in Creidton TE (ed): Encyclopedia of Molecular Biology, pp 1441-1447 (Wiley-Liss, New York 1999).
46. Johnson P, Duncan K, Blunt S, Bell G, Ali Z, Cox P, Moore GE: Apparent confined placental mosaicism of trisomy 16 and multiple fetal anomalies: case report. Prenat Diagn 20:417-421 (2000).
47. Joyce CA, Sharp A, Walker JM, Bullman H, Temple IK: Duplication of 7p13→p12.1 including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome. Hum Genet 105:273-280 (1999).
48. Kalscheuer VM, Mariman EC, Schepens MT, Rehder H, Ropers HH: The insulin-like growth factor type-2 receptor gene is imprinted in the mouse but not in humans. Nat Genet 5:74-78 (1993).
49. Killian JK, Nolan CM, Wylie AA, Li T, Vu TH, Hoffman AR, Jirtle RL: Divergent evolution in M6P/ IGF2R imprinting from the Jurassic to the Quaternary. Hum Mol Genet 10:1721-1728 (2001).
50. Kobayashi S, Wagatsuma H, Ono R, Ichikawa H, Yamazaki M, Tashiro H, Aisaka K, Miyoshi N, Kohda T, Ogura A, Ohki M, Kaneko-Ishino T, Ishino F: Mouse Peg9/Dlk1 and human PEG9/ DLK1 are paternally expressed imprinted genes closely located to the maternally expressed imprinted genes: mouse Meg3/Gtl2 and human MEG3. Genes Cells 5:1029-1037 (2000).
51. Kohlhase J, Janssen B, Weidenauer K, Harms K, Bartels I: First confirmed case with paternal uniparental disomy of chromosome 16. Am J Med Genet 91:190-191 (2000).
52. Kotzot D: Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting. Ann Genet 47:251-260 (2004).
53. Kotzot D, Balmer D, Baumer A, Chrzanowsk K, Hame BC, Ilyina H, Krajewska-Walasek M, Lurie IW, Otten BJ, Schoenle E, Tariverdian G, Schinzel A: Maternal uniparental disomy 7 - review and further delineation of the phenotype. Eur J Pediatr 159:247-256 (2000).
54. Kurosawa K, Sasaki H, Sato Y, Yamanaka M, Shimizu M, Ito Y, Okuyama T, Matsuo M, Imaizumi K, Kuroki Y, Nishimura G: Paternal UPD14 is responsible for a distinctive malformation complex. Am J Med Genet 1:268-272 (2002).
55. Lassarre C, Hardouin S, Daffos F, Forestier F, Frankenne F, Binoux M: Serum insulin-like growth factors and insulin-like growth factor binding proteins in the human fetus. Relationships with growth in normal subjects and in subjects with intrauterine growth retardation. Pediatr Res 29:219-225 (1991).
56. Laviola L, Perrini S, Belsanti G, Natalicchio A, Montrone C, Leonardini A, Vimercati A, Scioscia M, Selvaggi L, Giorgino R, Greco P, Giorgino F: Intrauterine growth restriction in humans is associated with abnormalities in placental insulin-like growth factor signalling. Endocrinology 146:1498-1505 (2005).
57. Ledbetter DH, Engel E: Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 4:1757-1764 (1995).
58. Lefebvre L, Viville 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).
59. Ma D, Shield JP, Dean W, Leclerc I, Knauf C, Burcelin RR, Rutter GA, Kelsey G: Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus TNDM. J Clin Invest 114:339-348 (2004).
60. Mackay DJ, Coupe AM, Shield JP, Storr JN, Temple IK, Robinson DO: Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus. Hum Genet 110:139-144 (2002).
61. Maher ER, Reik W: Beckwith-Wiedemann syndrome: imprinting in clusters revisited. J Clin Invest 105:247-252 (2000).
62. Masada CT, Olney AH, Fordyce R, Sanger WG: Partial deletion of 14q and partial duplication of 14q in sibs: testicular mosaicism for t(14q:14q) as a common mechanism. J Med Genet 34:528-534 (1989).
63. McCormick M: The contribution of low birth weight to infant mortality and childhood morbidity. N Engl J Med 312:82-90 (1985).
64. McGrath J, Solter D: Completion of mouse embryogenesis requires both maternal and paternal genomes. Cell 37:179-183 (1984).
65. McIntire DD, Bloom SL, Casey BM, Leveno KJ: Birthweight in relation to morbidity and mortality among newborn infants. New Engl J Med 340:1234-1238 (1999).
66. Miyoshi N, Wagatsuma H, Wakana S, Shiroishi T, Nomura M, Aisaka K, Kohda T, Surani MA, Kaneko-Ishino T, Ishino F: Identification of an imprinted gene, Meg3/Gtl2 and its human homologue MEG3, first mapped on mouse distal chromosome 12 and human chromosome 14q. Genes Cells 5:211-220 (2000).
67. Monk D, Wakeling EL, Proud V, Hitchins M, Abu-Amero SN, Stanier P, Preece MA, Moore GE: Duplication of 7p13→p11.2, including GRB10, in Silver-Russell syndrome. Am J Hum Genet 66:36-46 (2000).
68. Monk D, Bentley L, Beechey C, Hitchins M, Peters J, Preece MA, Stanier P, Moore GE: Characterisation of the growth regulating gene IMP3, a candidate for Silver-Russell syndrome. J Med Genet 39:575-581 (2002a).
69. Monk D, Bentley L, Hitchins M, Myler RA, Clayton-Smith J, Ismail S, Price SM, Preece MA, Stanier P, Moore GE: Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region. Hum Genet 111:376-387 (2002b).
70. Monk D, Smith R, Arnaud P, Preece MA, Stanier P, Beechey CV, Peters J, Kelsey G, Moore GE: Imprinted methylation profiles for proximal mouse chromosomes 11 and 7 as revealed by methylation-sensitive representational difference analysis. Mamm Genome 14:805-816 (2003).
71. Moore GE, Abu-Amero SN, Bell G, Wakeling EL, Kingsnorth A, Stanier P, Jauniaux E, Bennett ST: Evidence that insulin is imprinted in the human yolk sac. Diabetes 50:199-203 (2001).
72. Moore T, Haig D: Genomic imprinting in mammalian development: a parental tug-of-war. Trends Genet 7:45-49 (1991).
73. 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).
74. Murphy SK, Jirtle RL: Imprinting evolution and the price of silence. Bioessays 25:577-588 (2003).
75. Mutter GL: Role of imprinting in abnormal human development. Mutat Res 396:141-147 (1997).
76. Nakabayashi K, Bentley L, Hitchins MP, Mitsuya K, Meguro M, Minagawa S, et al: Identification and characterisation of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32. Hum Mol Genet 11:1743-1756 (2002).
77. Nakabayashi K, Makino S, Minagawa S, Smith AC, Bamforth JS, Stanier P, et al: Genomic imprinting of PPP1R9A encoding neurabin I in skeletal muscle and extra-embryonic tissues. J Med Genet 41:601-608 (2004).
78. Nicholls RD, Saitoh S, Horsthemke B: Imprinting in Prader-Willi and Angelman syndromes. Trends Genet 14:194-200 (1998).
79. Niemitz EL, DeBaun MR, Fallon J, Murakami K, Kugoh H, Oshimura M, Feinberg AP: Microdeletions of LIT1 in a familial Beckwith-Wiedemann syndrome. Am J Hum Genet 75:844-849 (2004).
80. Ong KK, Dunger DB: Perinatal growth failure: the road to obesity, insulin resistance and cardiovascular disease in adults. Best Pract Res Clin Endocrinol Metab 16:191-207 (2002).
81. O'Riordan S, Greenough A, Moore GE, Bennett P, Nicolaides KH: Case report: uniparental disomy 16 in association with congenital heart disease. Prenat Diagn 16:963-965 (1996).
82. Pastrakuljic A, Derawlany LO, Koren G: Maternal cocaine use and cigarette smoking in pregnancy in relation to amino acid transport and fetal growth. Placenta 20:499-512 (1999).
83. Piras G, El Kharroubi A, Kozlov S, Escalante-Alcalde D, Hernandez L, Copeland NG, Gilbert DJ, Jenkins NA, Stewart CL: Zac1 (Lot1), a potential tumour suppressor gene and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines. Mol Cell Biol 9:3308-3315 (2000).
84. Pollack RN, Divon MY: Intrauterine growth retardation: definition, classification and aetiology. Clin Obstet Gynecol 35:99-107 (1992).
85. Preece MA, Abu-Amero SN, Ali Z, Abu-Amero KK, Wakeling EL, Stanier P, Moore GE: An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD 7 Silver Russell syndrome probands. J Med Genet 36:457-460 (1999).
86. Price S, Stanhope R, Garrett C, Preece M, Trembath R: The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J Med Genet 36:837-842 (1999).
87. 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).
88. Riesewijk AM, Hu L, Schulz U, Tariverdian G, Hoglund P, Kere J, Ropers HH, Kalscheuer VM: Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses. Genomics 42:236-244 (1997).
89. Rogan PK, Seip JR, Driscoll DJ, Papenhausen PR, Johnson VP, Raskin S, Woodward AL, Butler MG: Distinct 15q genotypes in Russell-Silver and ring 15 syndromes. Am J Med Genet 62:10-15 (1996).
90. Ruggeri A, Dulcetti F, Miozzo M, Grati FR, Grimi B, Bellato S, Natacci F, Maggi F, Simoni G: Prenatal search for UPD 14 and UPD 15 in 83 cases of familial and de novo heterologous Robertsonian translocations. Prenat Diagn 24:997-1000 (2005).
91. Russell A: A syndrome of 'intrauterine dwarfism' recognised at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies. Proc Roy Soc Med 47:1040-1044 (1954).
92. Salas M, John R, Saxena A, Barton S, Frank D, Fitzpatrick G, Higgins MJ, Tycko B: Placental growth retardation due to loss of imprinting of Phlda2. Mech Dev 121:1199-1210 (2004).
93. Sanchez JM, Lopez De Diaz S, Panal MJ, Moya G, Kenny A, Iglesias D, Wolstenholme J: Severe fetal malformations associated with trisomy 16 confined to the placenta. Prenat Diagn 17:777-779 (1997).
94. Saxena A, Frank D, Panichkul P, Van den Veyver IB, Tycko B, Thaker H: The product of the imprinted IPL marks human villous cytotrophoblast and is lost in complete hydatidiform mole. Placenta 24:835-842 (2003).
95. Schwienbacher C, Angioni A, Scelfo R, Veronese A, Calin GA, Massazza G, Hatada I, Barbanti-Brodano G, Negrini M: Abnormal RNA expression of 11p15 imprinted genes and kidney developmental genes in Wilms' tumour. Cancer Res 60:1521-1525 (2000).
96. Searle AG, Beechey CV: Genome imprinting phenomena on mouse chromosome 7. Genet Res 56:237-244 (1990).
97. Silver H, Kiyasu W, Geirge J, Deamer W: Syndrome of congenital hemihypertrophy, short stature and elevated urinary gonadotrophins. Pediatr 12:368-376 (1953).
98. Smilinich NJ, Day CD, Fitzpatrick GV, Caldwell GM, Lossie AC, Cooper PR, 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).
99. Smith AC, Rubin T, Shuman C, Estabrooks L, Aylsworth AS, McDonald MT, Steele L, Ray PN; Weksberg R: New chromosome 11p15 epigenotypes identified in mole monozygotic twins with Beckwith-Wiedemann syndrome. Cytogenet Genome Res 113:313-317 (2006).
100. Smith RJ, Arnaud P, Konfortova G, Dean WL, Beechey CV, Kelsey G: The mouse Zac1 locus: basis for imprinting and comparison with human ZAC. Gene 292:101-112 (2002).
101. Sparago A, Cerrato F, Vernucci M, Ferrero GB, Silengo MC, Ricchio A: Microdeletions in the human H19-DMR results in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. Nat Genet 36:958-960 (2004).
102. Stoppard M: Medical emergencies, in Stoppard M (ed): Conception, Pregnancy and Birth, pp 17 and 201-202 (Dorling Kindersley, London 1993).
103. Sutton VR, Shaffer LG: Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion. Am J Med Genet 93:381-387 (2000).
104. Sutton VR, McAlister WH, Bertin TK, Kaffe S, Wang JC, Yano S, Shaffer LG, Lee B, Epstein CJ, Villar AJ: Skeletal defects in paternal uniparental disomy for chromosome 14 are recapitulated in the mouse model (paternal uniparental disomy 12). Hum Genet 113:447-451 (2003).
105. Varmuza S, Mann M: Genomic imprinting-defusing the ovarian time bomb. Trends Genet 10:118-123 (1994).
106. Varrault A, Ciani E, Apiou F, Bilanges B, Hoffmann A, Pantaloni C, Bockaert J, Spengler JD, Journot L: hZAC encodes a zinc finger protein with antiproliferative properties and maps to a chromosomal region frequently lost in cancer. Proc Natl Acad Sci USA 95:8835-8840 (1998).
107. Varrault A, Bilanges B, Mackay DJ, Basyuk E, Ahr B, Fernandez C, Robinson DO, Bockaert J, Journot L: Characterization of the methylation-sensitive promoter of the imprinted ZAC gene supports its role in transient neonatal diabetes mellitus. J Biol Chem 276:18653-18656 (2001).
108. Vaughan J, Ali Z, Bower S, Bennett P, Chard T, Moore G: Human maternal uniparental disomy for chromosome 16 and fetal development. Prenat Diagn 14:751-756 (1994).
109. Vu TH, Hoffman AR: Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. Nat Genet 17:12-13 (1997).
110. Wakeling EL, Abu-Amero SN, Stanier P, Preece MA, Moore GE: Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues. Eur J Hum Genet 6:158-164 (1998).
111. Wakeling EL, Hitchins MP, Abu-Amero SN, Stanier P, Moore GE, Preece MA: Biallelic expression of IGFBP1 and IGFBP3, two candidate genes for the Silver-Russell syndrome. J Med Genet 37: 65-67 (2000).
112. Weisstein AE, Feldman MW, Spencer HG: Evolutionary genetic models of the ovarian time bomb hypothesis for the evolution of genomic imprinting. Genetics 162:425-439 (2002).
113. Williams CA, Angelman H, Clayton-Smith J, Driscoll DJ, Hendrickson JE, Knoll JH, Magenis RE, Schinzel A, Wagstaff J, Whidden EM, et al: Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation. Am J Med Genet 56:237-238 (1995).
114. Yamada T, Mitsuya K, Kayashima T, Yamasaki KT, Yoshiura K, Matsumoto N, Yamada H, Minakami H, Oshimura M, Nikawa N, Kishino T: Imprinting analysis of 10 genes and/or transcripts in a 1.5-Mb MEST-flanking region at human chromosome 7q32. Genomics 83:402-412 (2004).
115. Yang T, Adamson TE, Resnick JL, Leff S, Wevrick R, Francke U, Jenkins NA, Copeland NG, Brannon CI: A mouse model for Prader-Willi syndrome imprinting-centre mutations. Nat Genet 19:25-31 (1998).
116. Young LE, Fernandes K, McEvoy TG, Butterwith SC, Gutierrez CG, Carolan C, Broadbent PJ, Robinson JJ, Wilmut I, Sinclair KD: Epigenetic change in IGF2R is associated with fetal overgrowth after sheep embryo culture. Nat Genet 27:153-154 (2001).
117. Younis JS, Samueloff A: Gestational vascular complications. Best Pract Res Clin Haematol 16:135-151 (2003).