Genomic imprinting of the type 3 thyroid hormone deiodinase gene: Regulation and developmental implications

Biochimica et Biophysica Acta - General Subjects

Volumn 1830, Issue 7, 2013, Pages 3946-3955

  Charalambous, Marika ^a   Hernandez, Arturo ^b  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b DARTMOUTH MEDICAL SCHOOL   (United States)

Author keywords

Dio3; Genomic imprinting; Mouse chromosome 12; Thyroid hormone; Type 3 deiodinase; Uniparental disomy of chromosome 14

Indexed keywords

LIOTHYRONINE DEIODINASE; OXIDOREDUCTASE; THYROID HORMONE; UNCLASSIFIED DRUG;

CELL DIFFERENTIATION; CELL PROLIFERATION; CHROMOSOME 12; CHROMOSOME 14; DELTA LIKE HOMOLOGUE 1 GENE; DIET RESTRICTION; DIO3 GENE; ENVIRONMENTAL FACTOR; EPIGENETICS; EUTHYROID SICK SYNDROME; GENE; GENE CLUSTER; GENE DOSAGE; GENE EXPRESSION REGULATION; GENE LOCUS; GENE STRUCTURE; GENOME IMPRINTING; HUMAN; HYPERTHYROIDISM; IMPRINTING CONTROL REGION; INFLAMMATION; NONHUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION; TYPE 3 THYROID HORMONE DEIODINASE GENE; UNIPARENTAL DISOMY;

ANIMALS; EPIGENESIS, GENETIC; GENE DOSAGE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GENOMIC IMPRINTING; HUMANS; IODIDE PEROXIDASE; SIGNAL TRANSDUCTION; THYROID HORMONES;

ANIMALIA; MAMMALIA; MUS MUSCULUS;

EID: 84877586187     PISSN: 03044165     EISSN: 18728006     Source Type: Journal    
DOI: 10.1016/j.bbagen.2012.03.015     Document Type: Review

References (137)

1. A.C. Bianco, D. Salvatore, B. Gereben, M.J. Berry, and P.R. Larsen Biochemistry, cellular and molecular biology, and physiological roles of the iodothyronine selenodeiodinases Endocr. Rev. 23 2002 38 89
2. B. Gereben, A.M. Zavacki, S. Ribich, B.W. Kim, S.A. Huang, W.S. Simonides, A. Zeold, and A.C. Bianco Cellular and molecular basis of deiodinase-regulated thyroid hormone signaling [Review] [446 refs] Endocr. Rev. 29 2008 898 938
3. A. Hernandez Structure and function of the type 3 deiodinase gene Thyroid 15 2005 865 874
4. C.E. Tsai, S.P. Lin, M. Ito, N. Takagi, T. S., and A.C. Ferguson-Smith Genomic imprinting contributes to thyroid hormone metabolism in the mouse embryo Curr. Biol. 12 2002 1221 1226
5. A. Yevtodiyenko, M.S. Carr, N. Patel, and J.V. Schmidt Analysis of candidate imprinted genes linked to Dlk1-Gtl2 using a congenic mouse line Mamm. Genome 13 11 Nov. 2002 633 638
6. A. Hernandez, S. Fiering, E. Martinez, V.A. Galton, and D.L. St. Germain The gene locus encoding the iodothyronine deiodinase type 3 (Dio3) is imprinted in the fetus and expresses antisense transcripts Endocrinology 143 2002 4483 4486
7. W. Reik, and J. Walter Genomic imprinting: parental influence on the genome Nat. Rev. Genet. 2 2001 21 32
8. T. Huang, I.J. Chopra, R. Boado, D.H. Solomon, and G.N. Chua Teco Thyroxine inner ring monodeiodinating activity in fetal tissues of the rat Pediatr. Res. 23 1988 196 199
9. T. Huang, A. Beredo, D.H. Solomon, and I.J. Chopra The inner ring (5-) monodeiodination of thyroxine (T4) in cerebral cortex during fetal, neonatal, and adult life Metabolism 35 1986 272 277
10. H.F. Escobar-Morreale, M.J. Obregon, A. Hernandez, F. Escobar del Rey, and G. Morreale de Escobar Regulation of iodothyronine deiodinase activity as studied in thyroidectomized rats infused with thyroxine or triiodothyronine Endocrinology 138 1997 2559 2568
11. M.M. Kaplan, and K.A. Yaskoski Phenolic and tyrosyl ring deiodination of iodothyronines in rat brain homogenates J. Clin. Invest. 66 1980 551 562
12. T. Huang, I.J. Chopra, A. Beredo, D.H. Solomon, and G.N. Chua Teco Skin is an active site of inner ring monodeiodination of thyroxine to 3,3′,5′-triiodothyronine Endocrinology 117 1985 2106 2113
13. J.M. Bates, D.L. St. Germain, and V.A. Galton Expression profiles of the three iodothyronine deiodinases, D1, D2 and D3, in the developing rat Endocrinology 140 1999 844 851
14. V.A. Galton, E. Martinez, A. Hernandez, E.A. St. Germain, J.M. Bates, and D.L. St. Germain Pregnant rat uterus expresses high levels of the type 3 iodothyronine deiodinase J. Clin. Invest. 103 1999 979 987
15. S.A. Huang, D.M. Dorfman, D.R. Genest, D. Salvatore, and P.R. Larsen Type 3 iodothyronine deiodinase is highly expressed in the human uteroplacental unit and in fetal epithelium J. Clin. Endocrinol. Metab. 88 2003 1384 1388
16. M. Dentice, A. Marsili, A.M. Zavacki, P.R. Larsen, and D. Salvatore The deiodinases and the control of intracellular thyroid hormone signaling during cellular differentiation Biochim. Biophys. Acta. 1830 2013 3937 3945 (this issue).
17. S.A. Huang, and A.C. Bianco Reawakened interest in type III iodothyronine deiodinase in critical illness and injury [Review] [67 refs] Nat. Clin. Pract. Endocrinol. Metab. 4 2008 148 155
18. R.P. Peeters, P.J. Wouters, E. Kaptein, H. van Toor, T.J. Visser, and G. Van den Berghe Reduced activation and increased inactivation of thyroid hormone in tissues of critically ill patients J. Clin. Endocrinol. Metab. 88 2003 3202 3211
19. R.P. Peeters, P.J. Wouters, H. van Toor, E. Kaptein, T.J. Visser, and G. Van den Berghe Serum 3,3′,5′-triiodothyronine (rT3) and 3,5,3′-triiodothyronine/rT3 are prognostic markers in critically ill patients and are associated with postmortem tissue deiodinase activities J. Clin. Endocrinol. Metab. 90 2005 4559 4565
20. Y. Debaveye, B. Ellger, L. Mebis, T.J. Visser, V.M. Darras, and G. Van den Berghe Effects of substitution and high-dose thyroid hormone therapy on deiodination, sulfoconjugation, and tissue thyroid hormone levels in prolonged critically ill rabbits Endocrinology 149 8 Aug. 2008 4218 4228
21. V.M. Darras, M. Cokelaere, E. Dewil, S. Arnouts, E. Decuypere, and E.R. Kuhn Partial food restriction increases hepatic inner ring deiodinating activity in the chicken and the rat Gen. Comp. Endocrinol. 100 1995 334 338
22. S. Van der Geyten, E. Van Rompaey, J.P. Sanders, T.J. Visser, E.R. Kuhn, and V.M. Darras Regulation of thyroid hormone metabolism during fasting and refeeding in chicken Gen. Comp. Endocrinol. 116 1999 272 280
23. I.J.I.e. Chopra Mechanisms of altered serum thyroid hormones in nonthyroidal illness S.Y. Wu, Thyroid Hormone Metabolism 1991 Blackwell Scientific Publications Oxford 195 210
24. F.W. Wassen, A.E. Schiel, G.G. Kuiper, E. Kaptein, O. Bakker, T.J. Visser, and W.S. Simonides Induction of thyroid hormone-degrading deiodinase in cardiac hypertrophy and failure Endocrinology 143 2002 2812 2815
25. E.L. Olivares, M.P. Marassi, R.S. Fortunato, A.C. da Silva, R.H. Costa-e-Sousa, I.G. Araujo, E.C. Mattos, M.O. Masuda, M.A. Mulcahey, S.A. Huang, A.C. Bianco, and D.P. Carvalho Thyroid function disturbance and type 3 iodothyronine deiodinase induction after myocardial infarction in rats a time course study Endocrinology 148 10 Oct. 2007 4786 4792
26. A. Boelen, J. Boorsma, J. Kwakkel, C.W. Wieland, R. Renckens, T.J. Visser, E. Fliers, and W.M. Wiersinga Type 3 deiodinase is highly expressed in infiltrating neutrophilic granulocytes in response to acute bacterial infection Thyroid 18 2008 1095 1103
27. W.W. Li, C. Le Goascogne, M. Ramauge, M. Schumacher, M. Pierre, and F. Courtin Induction of type 3 iodothyronine deiodinase by nerve injury in the rat peripheral nervous system Endocrinology 142 2001 5190 5197
28. A. Boelen, J. Kwakkel, A. Alkemade, R. Renckens, E. Kaptein, G. Kuiper, W.M. Wiersinga, and T.J. Visser Induction of type 3 deiodinase activity in inflammatory cells of mice with chronic local inflammation Endocrinology 146 2005 5128 5134
29. A. Hernandez, M.E. Martinez, S. Fiering, V.A. Galton, and D. St Germain Type 3 deiodinase is critical for the maturation and function of the thyroid axis J. Clin. Invest. 116 2006 476 484
30. A. Hernandez, E. Martinez, X. Liao, J. Van Sande, S. Refetoff, V.A. Galton, and D. St Germain Type 3 deiodinase deficiency results in functional abnormalities at multiple levels of the thyroid axis Endocrinology 148 2007 5680 5687
31. A. Boelen, J. Kwakkel, C.W. Wieland, D. St Germain, E. Fliers, and A. Hernandez Impaired bacterial clearance in type 3 deiodinase deficient mice infected with Streptococcus pneumoniae Endocrinology 150 2009 1984 1990
32. L. Ng, A. Hernandez, W. He, T. Ren, M. Srinivas, M. Ma, V.A. Galton, D.L. St Germain, and D. Forrest A protective role for type 3 deiodinase, a thyroid hormone-inactivating enzyme, in cochlear development and auditory function Endocrinology 150 2009 1952 1960 [Erratum appears in Endocrinology. 2009 May;150(5):2499]
33. L. Ng, A. Lyubarsky, S.S. Nikonov, M. Ma, M. Srinivas, B. Kefas, D.L. St Germain, A. Hernandez, E.N. Pugh Jr., and D. Forrest Type 3 deiodinase, a thyroid-hormone-inactivating enzyme, controls survival and maturation of cone photoreceptors J. Neurosci. 30 2010 3347 3357
34. M.C. Medina, J. Molina, Y. Gadea, A. Fachado, M. Murillo, G. Simovic, A. Pileggi, A. Hernandez, H. Edlund, and A.C. Bianco The thyroid hormone-inactivating type III deiodinase is expressed in mouse and human beta-cells and its targeted inactivation impairs insulin secretion Endocrinology 152 2011 3717 3727
35. A. Hernandez, L. Quignodon, M.E. Martinez, F. Flamant, and D.L. St. Germain Type 3 deiodinase deficiency causes spatial and temporal alterations in brain T3 signaling that are dissociated from serum thyroid hormone levels Endocrinology 151 2010 5550 5558
36. M.A. Surani, S.C. Barton, and M.L. Norris Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis Nature 308 1984 548 550
37. J. McGrath, and D. Solter Completion of mouse embryogenesis requires both the maternal and the paternal genome Cell 137 1984 179 183
38. C.M. Williamson, A. Blake, C.V. Beechey, J. Hancock, B.M. Cattanach, and J. Peters Mouse Imprinting Data and References 2012 MRC Harwell Oxforshire http://www.har.mrc.ac.uk/research/genomic-imprinting/
39. A.C. Ferguson-Smith Genomic imprinting: the emergence of an epigentic paradigm Nat. Rev. Genet. 2011 8
40. K.R. McEwen, and A.C. Ferguson-Smith Distinguishing epigenetic marks of developmental and imprinting regulation Epigenetics Chromatin 3 2010 2
41. M. Kaneda, M. Okano, K. Hata, T. Sado, N. Tsujimoto, E. Li, and H. Sasaki Essential role for de novo DNA methyltransferase Dnmt3a in paternal and maternal imprinting Nature 429 2004 900 903
42. D. Bourchis, G.L. Xu, C.S. Lin, B. Bollman, and T.H. Bestor Dnmt3L and the establishment of maternal genomic imprints Science 294 2001 2536 2539
43. D. Bourchis, and T.H. Bestor Meiotic catastrophe and retrotransposon reactivation in male germ cells lacking Dnmt3L Nature 431 2004 96 99
44. T. Watanabe, S. Tomizawa, K. Mitsuya, Y. Totoki, Y. Yamamoto, S. Kuramochi-Miyagawa, N. Iida, Y. Hoki, P.J. Murphy, A. Toyoda, K. Gotoh, H. Hiura, T. Arima, A. Fujiyama, T. Sado, T. Shibata, T. Nakano, H. Lin, K. Ichiyanagi, P.D. Soloway, and H. Sasaki Role for piRNAs and noncoding RNA in de novo DNA methylation of the imprinted mouse Rasgrf1 locus Science 332 2011 848 852
45. J.L. Glass, M.J. Fazzari, A.C. Ferguson-Smith, and J.M. Greally CG dinucleotide periodicities recognized by the Dnmt3a-Dnmt3L complex are distinctive at retroelements and imprinted domains Mamm. Genome 20 2009 633 643
46. S.A. Smallwood, and G. Kelsey De novo DNA methylation: a germ cell perspective Trends Genet. 28 2012 33 42
47. W. Reik, W. Dean, and J. Walter Epigenetic reprogramming in mammalian development Science 293 2001 1089 1093
48. X. Li, M. Ito, F. Zhou, N. Youngson, X. Zuo, P. Leder, and A.C. Ferguson-Smith A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints Dev. Cell 15 2008 547 557
49. T. Nakamura, Y. Arai, H. Umehara, M. Matsuhara, T. Kimura, H. Taniguchi, T. Sekimoto, M. Ikawa, Y. Yoneda, M. Okabe, S. Tanaka, K. Shiota, and T. Nakano PGC7/Stella protects against DNA demethylation in early embryogenesis Nat. Cell Biol. 9 2007 64 71
50. S. Quenneville, G. Verde, A. Corsinotti, A. Kapopoulou, J. Jakobsson, S. Offner, I. Baglivo, P.V. Pedone, G. Grimaldi, A. Riccio, and D. Trono In embryonic stem cells, ZFP57/KAP1 recognize a methylated hexanucleotide to affect chromatin and DNA methylation of imprinting control regions Mol. Cell 44 2011 361 372
51. X. Zuo, J. Sheng, H.T. Lau, C.M. McDonald, M. Andrade, D.E. Cullen, F.T. Bell, M. Iacovino, M. Kyba, G. Xu, and X. Li The zinc finger protein ZFP57 requires its cofactor to recruit DNA methyltransferases and maintains the DNA methylation imprint in embryonic stem cells via its transcriptional repression domain J. Biol. Chem. 2011 [Epub ahead of print]
52. D.J. Mackay, J.L. Callaway, S.M. Marks, H.E. White, C.L. Acerini, S.E. Boonen, P. Dayanikli, H.V. Firth, J.A. Goodship, A.P. Haemers, J.M. Hahnemann, O. Kordonouri, A.F. Masoud, E. Oestergaard, J. Storr, S. Ellard, A.T. Hattersley, D.O. Robinson, and I.K. Temple Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57 Nat. Genet. 40 2008 949 951
53. M.W. Koerner, F.M. Pauler, R. Huang, and D.P. Barlow The function of non-coding RNAs in genomic imprinting Development 136 2009 1771 1783
54. M. Charalambous, T.R. Menheniott, W.R. Bennett, S.M. Kelly, G. Dell, L. Dandolo, and A. Ward An enhancer element at the Igf2/H19 locus drives gene expression in both imprinted and non-imprinted tissues Dev. Biol. 271 2004 488 497
55. S.R. Ferron, M. Charalambous, E. Radford, K. McEwen, H. Wildner, E. Hind, J.M. Morante-Redolat, J. Laborda, F. Guillemot, S.R. Bauer, I. Farinas, and A.C. ferguson-Smith Postnatal loss of Dlk1 imprinting in stem cells and niche astrocytes regulates neurogenesis Nature 475 2011 381 385
56. P. Arnaud, D. Monk, M. Hitchins, E. Gordon, W. Dean, C.V. Beechey, J. Peters, W. Craigen, M. Preece, P. Stanier, G.E. Moore, and G. Kelsey 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 2003 1005 1019
57. J. Peters, and C.M. Williamson Control of imprinting at the Gnas cluster Epigenetics 2 2007 207 213
58. B.M. Cattanach, and C.V. Beechey Autosomal and X-chromosome imprinting [Review] [60 refs] Dev. Suppl. 1990 63 72
59. M. Charalambous, S.T. da Rocha, and A.C. Ferguson-Smith Genomic imprinting, growth control and the allocation of nutritional resources: consequences for postnatal life Curr. Opin. Endocrinol. Diabetes Obes. 14 2007 3 12
60. J.P. Curley Is there a genomically imprinted social brain? Bioessays 33 2011 662 668
61. M. Frontera, B. Dickins, A. Plagge, and G. Kelsey Imprinted genes, postnatal adaptations and enduring effects on energy homeostasis [Review] [138 refs] Adv. Exp. Med. Biol. 626 2008 41 61
62. J.H. Knoll, R.D. Nicholls, R.E. Magenis, J.M.J. Graham, M. Lalande, and S.A. Latt Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in the parental origin of the deletion Am. J. Med. Genet. 32 1989 285 290
63. R. Shemer, A.Y. Hershko, J. Perk, R. Mostoslavsky, B. Tsuberi, H. Cedar, K. Buiting, and A. Razin The imprinting box of the Prader-Willi/Angelman syndrome domain Nat. Genet. 26 2000 440 443
64. I. Hatada, H. Ohashi, Y. Fukushima, Y. Kaneko, M. Inoue, Y. Komoto, A. Okada, S. Ohishi, A. Nabetani, H. Morisaki, M. Nakayama, N. Niikawa, and T. Mukai An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome Nat. Genet. 14 1996 171 173
65. M.P. Lee, R.J. Hu, L.A. Johnson, and A.P. Feinberg Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements Nat. Genet. 15 1997 181 185
66. E.R. Maher, and W. Reik Beckwith-Wiedemann syndrome: imprinting in clusters revisited J. Clin. Invest. 105 2000 247 252
67. V.V. Rao, S. Schnittger, and I. Hansmann G protein Gs alpha (GNAS 1), the probable candidate gene for Albright hereditary osteodystrophy, is assigned to human chromosome 20q12-q13.2 Genomics 10 1991 257 261
68. G. Mantovani, S. Bondioni, A.G. Lania, S. Corbetta, L. de Sanctis, M. Cappa, E. Di Battista, P. Chanson, P. Beck-Peccoz, and A. Spada Parental origin of Gsalpha mutations in the McCune-Albright syndrome and in isolated endocrine tumors J. Clin. Endocrinol. Metab. 89 2004 3007 3009
69. H. Juppner, E. Schipani, M. Bastepe, D.E. Cole, M.L. Lawson, M. Mannstadt, G.N. Hendy, H. Plotkin, H. Koshiyama, T. Koh, J.D. Crawford, B.R. Olsen, and M. Vikkula The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3 Proc. Natl. Acad. Sci. U. S. A. 95 1998 11798 11803
70. J. Liu, D. Litman, M.J. Rosenberg, S. Yu, L.G. Biesecker, and L.S. Weinstein A GNAS1 imprinting defect in pseudohypoparathyroidism type IB J. Clin. Invest. 106 2000 1167 1174
71. B.M. Cattanach, and C. Rasberry Evidence of imprinting involving the distal region of Ch12 Mouse Genome 91 1993 858
72. P. Georgiades, M. Wadkins, M.A. Surani, and A.C. Ferguson-Smith Parental origin-specific developmental defects in mice with uniparental disome of chromosome 12 Development 127 2000 4719 4728
73. S. Takada, M. Tevendale, J. Baker, P. Georgiades, E. Campbell, T. Freeman, M.H. Johnson, M. Paulsen, and A.C. Ferguson-Smith Delta-like and gtl2 are reciprocally expressed, differentially methylated linked imprinted genes on mouse chromosome 12 Curr. Biol. 10 2000 1135 1138
74. A.A. Wylie, S.K. Murphy, T.C. Orton, and R.L. Jirtle Novel imprinted DLK1/GTL2 domain on human chromosome 14 contains motifs that mimic those implicated in IGF2/H19 regulation Genome Res. 10 2000 1711 1718
75. S. Tierling, G. Gasparoni, N. Youngson, and M. Paulsen The Begain gene marks the centromeric boundary of the imprinted region on mouse chromosome 12 Mamm. Genome 20 2009 699 710
76. H.K. Sul Pref1: role in adipogenesis and mesenchymal cell fate Mol. Endocrinol. 23 2009 1717 1725
77. Y. Sekita, H. Wagatsuma, K. Nakamura, R. Ono, M. Kagami, N. Wakisaka, T. Hino, R. Suzuki-Migishima, A. Ogura, T. Ogata, M. Yokoyama, T. Kaneko-Ishino, and F. Ishino Role of retrotransposon-derived imprinted gene, Rtl1, in the feto-maternal interface of mouse placenta Nat. Genet. 40 2008 243 248
78. C. Braconi, T. Kogure, N. Valeri, N. Huang, G. Nuovo, S. Costinean, M. Negrini, E. Miotto, C.M. Croce, and T. Patel MicroRNA-29 can regulate expression of the long non-coding RNA gene MEG3 in hepatocellular cancer Oncogene 30 2011 4750 4756
79. L. Benetatos, G. Vartholomatos, and E. Hatzimichael MEG3 imprinted gene contribution in tumorigenesis Int. J. Cancer 129 2011 773 779
80. H. Seitz, N. Youngson, S.P. Lin, S. Dalbert, M. Paulsen, J.P. Bachellerie, A.C. Ferguson-Smith, and J. Cavaille Imprinted microRNA genes transcribed antisense to a reciprocally imprinted retrotransposon-like gene Nat. Genet. 34 2003 261 262
81. H. Seitz, H. Royo, M.L. Bortolin, S.P. Lin, A.C. Ferguson-Smith, and J. Cavaille A large imprinted microRNA gene cluster at the mouse Dlk1-Gtl2 domain Genome Res. 14 2004 1741 1748
82. J. Cavaille, H. Seitz, M. Paulsen, A.C. Ferguson-Smith, and J.P. Bachellerie Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region Hum. Mol. Genet. 11 2002 1527 1538
83. S.P. Lin, N. Youngson, S. Takada, H. Seitz, W. Reik, M. Paulsen, J. Cavaille, and A.C. Ferguson-Smith Asymmetric regulation of imprinting on the maternal and paternal chromosomes at the Dlk1-Gtl2 imprinted cluster on mouse chromosome 12 [See comment] Nat. Genet. 35 2003 97 102
84. S.T. da Rocha, C.A. Edwards, M. Ito, T. Ogata, and A.C. Ferguson-Smith Genomic imprinting at the mammalian Dlk1-Dio3 domain Trends Genet. 24 2008 306 316
85. E.Y. Steshina, M.C. Carr, E.A. Glick, A. Yevtodiyenko, O.K. Appelbe, and J.V. Schmidt Loss of imprinting at the Dlk1-Gtl2 locus caused by insertional mutagenesis in the Gtl2 5′region BMC Genet. 7 2006 44
86. Y. Sekita, H. Wagatsuma, M. Irie, S. Kobayashi, T. Kohda, J. Matsuda, M. Yokoyama, A. Ogura, K. Schuster-Gossler, A. Gossler, F. Ishino, and T. Kaneko-Ishino Aberrant regulation of imprinted gene expression in Gtl2lacZ mice Cytogenet. Genome Res. 113 2006 223 229
87. T.S. MIkkelsen, M. Ku, D.B. Jaffe, B. Isaac, E. Lieberman, G. Giannoukos, P. Alvarez, W. Brockman, T.K. Kim, R.P. Koche, W. Lee, E. Menderhall, A. O'Donovan, A. Presser, C. Russ, X. Xie, A. Meissner, M. Wernig, R. Jaenisch, C. Nusbaum, E.S. Lander, and B.E. Bernstein Genome-wide maps of chormatin state in pluripotent and lineage-committed cells Nature 448 2007 553 560
88. C. Braem, B. Recolin, R.C. Rancourt, C. Angiolini, P. Barthes, P. Branchu, F. Court, G. Cathala, A.C. Ferguson-Smith, and T. Forne Genomic matrix attachment region and chromosome conformation capture quantitative real time PCR assays identify novel putative regulatory elements at the imprinted Dlk1/Gtl2 locus J. Biol. Chem. 283 2008 18612 18620
89. A. Hernández, J. Park, G.J. Lyon, T.K. Mohandas, and D.L. St Germain, localization of the type 3 iodothyronine deiodinase (DIO3) gene to human chromosome 14q32 and mouse chromosome 12F1 Genomics 53 1998 119 121
90. A. Hernández, G.J. Lyon, M.J. Schneider, and D.L. St. Germain Isolation and characterization of the mouse gene for the type 3 iodothyronine deiodinase Endocrinology 140 1999 124 130
91. C.E. Tsai, S.P. Lin, M. Ito, N. Takagi, S. Takada, and A.C. Ferguson-Smith Genomic imprinting contributes to thyroid hormone metabolism in the mouse embryo Curr. Biol. 12 2002 1221 1226
92. W. Croteau, S.L. Whittemore, M.J. Schneider, and D.L. St Germain Cloning and expression of a cDNA for a mammalian type III iodothyronine deiodinase J. Biol. Chem. 270 1995 16569 16575
93. H.M. Tu, G. Legradi, T. Bartha, D. Salvatore, R. Lechan, and P.R. Larsen Regional expression of the type 3 iodothyronine deiodinase messenger ribonucleic acid in the rat central nervous system and its regulation by thyroid hormone Endocrinology 140 1999 784 790
94. A. Hernandez, E. Martinez, W. Croteau, and D. St Germain Complex organization and structure of sense and antisense transcripts expressed from the DIO3 gene imprinted locus Genomics 83 2004 413 424
95. M. Dentice, C. Luongo, S. Huang, R. Ambrosio, A. Elefante, D. Mirebeau-Prunier, A.M. Zavacki, G. Fenzi, M. Grachtchouk, M. Hutchin, A.A. Dlugosz, A.C. Bianco, C. Missero, P.R. Larsen, and D. Salvatore Sonic hedgehog-induced type 3 deiodinase blocks thyroid hormone action enhancing proliferation of normal and malignant keratinocytes Proc. Natl. Acad. Sci. U. S. A. 104 2007 14466 14471
96. R.D. Morin, M.D. O'Connor, M. Griffith, F. Kuchenbauer, A. Delaney, A.L. Prabhu, Y. Zhao, H. McDonald, T.B. Zeng, M. Hirst, C.J. Eaves, and M.A. Marra Application of massively parallel sequencing to microRNA profiling and discovery in human embryonic stem cells Genome Res. 18 2008 610 621
97. S. Tierling, S. Dalbert, S. Schoppenhorst, C. Tsai, S. Oliger, A.C. Ferguson-Smith, M. Paulsen, and J. Walter High-resolution map and imprinting analysis of the Gtl2-Dnchc1 domain on mouse chromosome 12 Genomics 87 2006 225 235
98. A. Hernandez, and D.L. St Germain Activity and response to serum of the mammalian thyroid hormone deiodinase 3 gene promoter: identification of a conserved enhancer Mol. Cell. Endocrinol. 206 2003 23 32
99. L.A. Boyer, K. Plath, J. Zeitlinger, T. Brambrink, L.A. Medeiros, T.I. Lee, S.S. Levine, M. Wernig, A. Tajonar, M.K. Ray, G.W. Bell, A.P. Otte, M. Vidal, D.K. Gifford, R.A. Young, and R. Jaenisch Polycombcomplexes repress developmental regulators in murine embryonic stem cells Nature 441 2006 349 353
100. B.E. Bernstein, T.S. MIkkelsen, X. Xie, M. Kamal, D.J. Huebert, J. Cuff, B. Fry, A. Meissner, M. Wernig, K. Plath, R. Jaenisch, A. Wagschal, R. Feil, S.L. Schreiber, and E.S. Lander A bivalent chromatin structure marks key developmental genes in embryonic stem cells Cell 125 2006 315 326
101. S.P. Lin, P. Coan, S.T. da Rocha, H. Seitz, J. Cavaille, P.W. Teng, S. Takada, and A.C. Ferguson-Smith Differential regulation of imprinting in the murine embryo and placenta by the Dlk1-Dio3 imprinting control region Development 134 2007 417 426
102. L.J. Sittig, P.K. Shukla, L.B. Herzing, and E.E. Redei Strain-specific vulnerability to alcohol exposure in utero via hippocampal parent-of-origin expression of deiodinase-III FASEB J. 25 2011 2313 2324
103. M. Kagami, Y. Sekita, G. Nishimura, M. Irie, F. Kato, M. Okada, S. Yamamori, H. Kishimoto, M. Nakayama, Y. Tanaka, K. Matsuoka, T. Takahashi, M. Noguchi, Y. Tanaka, K. Masumoto, T. Utsunomiya, H. Kouzan, Y. Komatsu, H. Ohashi, K. Kurosawa, K. Kosaki, A.C. Ferguson-Smith, F. Ishino, and T. Ogata Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes Nat. Genet. 40 2008 237 242
104. M.J. Falk, C.A. Curtis, N.E. Bass, A.B. Zinn, and S. Schwartz Maternal uniparental disomy chromosome 14: case report and literature review [Review] [16 refs] Pediatr. Neurol. 32 2005 116 120
105. K.J. Coveler, S.P. Yang, R. Sutton, J.M. Milstein, Y.Q. Wu, K.D. Bois, L.S. Beischel, J.P. Johnson, and L.G. Shaffer A case of segmental paternal isodisomy of chromosome 14. [Review] [25 refs] Hum. Genet. 110 2002 251 256
106. D.R. Towner, L.G. Shaffer, S.P. Yang, and D.D. Walgenbach Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction Prenat. Diagn. 21 2001 395 398
107. D. Kotzot Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting Ann. Genet. 47 2004 251 260
108. H. Cox, H. Bullman, and I.K. Temple Maternal UPD(14) in the patient with a normal karyotype: clinical report and a systematic search for cases in samples sent for testing for Prader-Willi syndrome Am. J. Med. Genet. 127A 2004 21 25
109. A.C. Offiah, L. Cornette, and C.M. Hall Paternal uniparental disomy 14: introducing the "coat-hanger" sign Pediatr. Radiol. 33 2003 509 512
110. V.R. Sutton, W.H. McAlister, T.K. Bertin, S. Kaffe, J.C. Wang, S. Yano, L.G. Shaffer, B. Lee, C.J. Epstein, and A.J. Villar Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12) Hum. Genet. 113 2003 447 451
111. K. Kurosawa, H. Sasaki, Y. Sato, M. Yamanaka, M. Shimizu, Y. Ito, T. Okuyama, M. Matsuo, K. Imaizumi, Y. Kuroki, and G. Nishimura Paternal UPD14 is responsible for a distinctive malformation complex Am. J. Med. Genet. 110 2002 268 272
112. S. Naik, and I.K. Temple Coat hanger appearances of the ribs: a useful diagnostic marker of paternal uniparental disomy of chromosome 14 Arch. Dis. Child. 95 2010 909
113. U. Zechner, N. Kohlschmidt, G. Rittner, N. Damatova, V. Beyer, T. Haaf, and O. Bartsch Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype Clin. Genet. 75 2009 251 258
114. K. Hosoki, T. Ogata, M. Kagami, T. Tanaka, and S. Saitoh Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype Eur. J. Hum. Genet. 16 8 Aug. 2008 1019 1023
115. I.K. Temple, V. Shrubb, M. Lever, H. Bullman, and D.J. Mackay Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14 J. Med. Genet. 44 2007 637 640
116. M.D. Irving, K. Buiting, D. Kanber, C. Donaghue, R. Schulz, A. Offiah, S.N. Mohammed, and R.J. Oakey Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14 Am. J. Med. Genet. 2010 1942
117. J.I. Martin-Subero, O. Ammerpohl, M. Bibikova, E. Wickham-Garcia, X. Agirre, S. Alvarez, M. Bruggemann, S. Bug, M.J. Calasanz, M. Deckert, M. Dreyling, M.Q. Du, J. Durig, M.J. Dyer, J.B. Fan, S. Gesk, M.L. Hansmann, L. Harder, S. Hartmann, W. Klapper, R. Kuppers, M. Montesinos-Rongen, I. Nagel, C. Pott, J. Richter, J. Roman-Gomez, M. Seifert, H. Stein, J. Suela, L. Trumper, I. Vater, F. Prosper, C. Haferlach, J. Cruz Cigudosa, and R. Siebert A comprehensive microarray-based DNA methylation study of 367 hematological neoplasms PLoS One 4 2009 e6986
118. J.M. Luk, J. Burchard, C. Zhang, A.M. Liu, K.F. Wong, F.H. Shek, N.P. Lee, S.T. Fan, R.T. Poon, I. Ivanovska, U. Philippar, M.A. Cleary, C.A. Buser, P.M. Shaw, C.N. Lee, D.G. Tenen, H. Dai, and M. Mao DLK1-DIO3 genomic imprinted microRNA cluster at 14q32.2 defines a stemlike subtype of hepatocellular carcinoma associated with poor survival J. Biol. Chem. 286 2011 30706 30713
119. D. Astuti, F. Latif, K. Wagner, D. Gentle, W.N. Cooper, D. Catchpoole, R. Grundy, A.C. Ferguson-Smith, and E.R. Maher Epigenetic alteration at the DLK1-GTL2 imprinted domain in human neoplasia: analysis of neuroblastoma, phaeochromocytoma and Wilms' tumour Br. J. Cancer 92 2005 1574 1580
120. N. Takahashi, R. Kobayashi, and T. Kono Restoration of Dlk1 and Rtl1 is necessary but insufficient to rescue lethality in intergenic differentially methylated region (IG-DMR)-deficient mice J. Biol. Chem. 285 2010 26121 26125
121. A. Hernandez, E. Martinez, D. Collison, and D. St Germain Preferential monoallelic expression of the human DIO3, a candidate gene for the maternal uniparental disomy of chromosome 14 phenotype, abstract 85th annual Meeting of the American Endocrine Society. Philadelphia, PA 2003
122. S.E. Antonarakis, J.L. Blouin, J. Maher, D. Avramopoulos, G. Thomas, and C.C. Talbot Jr. Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14 Am. J. Hum. Genet. 52 1993 1145 1152
123. R. Hordijk, H. Wierenga, H. Scheffer, B. Leegte, R.M. Hofstra, and I. Stolte-Dijkstra Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype J. Med. Genet. 36 1999 782 785
124. M.J. Berends, R. Hordijk, H. Scheffer, J.C. Oosterwijk, D.J. Halley, and N. Sorgedrager Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype Am. J. Med. Genet. 84 1999 76 79
125. A.J. Wood, and R.J. Oakey Genomic imprinting in mammals: emerging themes and established theories PLoS Genet. 2 2006 e147
126. D. Haig Genomic imprinting and kinship: how good is the evidence? Annu. Rev. Genet. 38 2004 553 585
127. W. Reik, and J. Walter Evolution of imprinting mechanisms: the battle of the sexes begins in the zygote Nat. Genet. 27 2001 255 256
128. J.K. Killian, T.R. Buckley, N. Stewart, B.L. Munday, and R.L. Jirtle Marsupials and Eutherians reunited: genetic evidence for the Theria hypothesis of mammalian evolution Mamm. Genome 12 2001 513 517
129. M. Charalambous, S.R. Ferron, S.T. da Rocha, A.J. Murray, T. Rowland, M. Ito, K. Schuster-Gossler, A. Hernandez, and A.C. Ferguson-Smith Imprinted gene dosage is critical for the transition to independent life Cell Metabolism 15 2012 209 221
130. J.P. Curley, S.C. Barton, A. Surani, and E.B. Keverne Coadaptation in mother and infant regulated by a paternally expressed imprinted gene Proc. Biol. Sci. 271 2004 1303 1309
131. R.L. Jirtle, and M.K. Skinner Environmental epigenomics and disease susceptibility Nat. Rev. Genet. 8 2007 253 262
132. C.A. Edwards, A.J. Mungall, L. Matthews, E. Ryder, D.J. Gray, A.J. Pask, G. Shaw, J.A.M. Graves, J. Rogers, S. consortium, I. Dunham, M.B. Renfree, and A.C. Ferguson-Smith The evolution of the DLK1-DIO3 imprinted domain in mammals PLoS Biol. 6 2008 e135
133. J.L. Bakke, and N. Lawrence Persistent thyrotropin insufficiency following neonatal thyroxine administration J. Lab. Clin. Med. 67 1966 477 482
134. J.L. Bakke, N. Lawrence, and J.F. Wilber The late effects of neonatal hyperthyoridism upon the hypothalamic-pituitary-thyroid axis in the rat Endocrinology 95 1974 406 411
135. J.L. Bakke, N. Lawrence, and S. Robinson Late effects of thyroxine injected into the hypothalamus of the neonatal rat Neuroendocrinology 10 1972 183 195
136. J.L. Bakke, N.L. Lawrence, S. Robinson, and J. Bennett Endocrine studies in the untreated F1 and F2 progeny of rats treated neonatally with thyroxine Biol Neonate 31 1977 71 83
137. J.L. Bakke, N.L. Lawrence, S. Robinson, and J. Bennett Observations on the untreated progeny of hypothyroid male rats Metab. Clin. Exp. 25 1976 437 444