The influence of non-coding RNAs on allele-specific gene expression in mammals

Human Molecular Genetics

Volumn 14, Issue SPEC. ISS. 1, 2005, Pages

  O'Neill, Michael J ^a  

^a UNIVERSITY OF CONNECTICUT   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN; POTASSIUM CHANNEL KCNQ1; RNA; SMALL NUCLEAR RIBONUCLEOPROTEIN; SOMATOMEDIN B; SOMATOMEDIN B RECEPTOR; UNTRANSLATED RNA;

BECKWITH WIEDEMANN SYNDROME; BIOCHEMISTRY; CELL NUCLEUS; CHROMATIN STRUCTURE; EUKARYOTE; GENE DOSAGE; GENE EXPRESSION; GENE EXPRESSION REGULATION; GENE SILENCING; GENETIC CODE; GENETIC VARIABILITY; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; HUMAN; MAMMAL; NONHUMAN; NUCLEIC ACID PROBE; OPEN READING FRAME; PHYLOGENETIC TREE ROOT; PRADER WILLI SYNDROME; PRIORITY JOURNAL; PROKARYOTE; PROTEIN SYNTHESIS; RESEARCH; REVIEW; RNA INTERFERENCE; TRANSCRIPTION REGULATION; X CHROMOSOME INACTIVATION;

ALLELES; ANIMALS; DNA; DOSAGE COMPENSATION, GENETIC; GENE EXPRESSION REGULATION; GENE SILENCING; HUMANS; MICE; MODELS, GENETIC; MULTIGENE FAMILY; OPEN READING FRAMES; RNA INTERFERENCE; RNA, SMALL INTERFERING; RNA, UNTRANSLATED; TRANSCRIPTION, GENETIC;

EUKARYOTA; MAMMALIA; PROKARYOTA;

EID: 17444410031     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddi108     Document Type: Review

References (113)

1. Verona, R.I., Mann, M.R. and Bartolomei, M.S. (2003) Genomic imprinting: intricacies of epigenetic regulation in clusters. Annu. Rev. Cell Dev. Biol., 19, 237-259.
2. Peters, J. and Beechey, C. (2004) Identification and characterisation of imprinted genes in the mouse. Brief. Funct. Genomics Proteomics, 2, 320-333.
3. Plath, K., Mlynarczyk-Evans, S., Nusinow, D.A. and Panning, B. (2002) Xist RNA and the mechanism of X chromosome inactivation. Annu. Rev. Genet., 36, 233-278.
4. Heard, E. (2004) Recent advances in X-chromosome inactivation. Curr. Opin. Cell Biol., 16, 247-255.
5. Lippman, Z. and Martienssen, R. (2004) The role of RNA interference in heterochromatic silencing. Nature, 431, 364-370.
6. Lavorgna, G., Dahary, D., Lehner, B., Sorek, R., Sanderson, C.M. and Casari, G. (2004) In search of antisense. Trends Biochem. Sci., 29, 88-94.
7. DeChiara, T.M., Robertson, E.J. and Efstratiadis, A. (1991) Parental imprinting of the mouse insulin-like growth factor II gene. Cell, 64, 849-859.
8. Brannan, C.I., Dees, E.C., Ingram, R.S. and Tilghman, S.M. (1990) The product of the H19 gene may function as an RNA. Mol. Cell. Biol., 10, 28-36.
9. Bartolomei, M.S., Zemel, S. and Tilghman, S.M. (1991) Parental imprinting of the mouse H19 gene. Nature, 351, 153-155.
10. Weksberg, R., Shen, D.R., Fei, Y.L., Song, Q.L. and Squire, J. (1993) Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome. Nat. Genet., 5, 143-150.
11. Reik, W. and Maher, E.R. (1997) Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome. Trends Genet., 13, 330-334.
12. Jones, B.K., Levorse, J. and Tilghman, S.M. (1998) Igf2 imprinting does not require its own DNA methylation or H19 RNA. Genes Dev., 12, 2200-2207.
13. Hark, A.T. and Tilghman, S.M. (1998) Chromatin conformation of the H19 epigenetic mark. Hum. Mol. Genet., 7, 1979-1985.
14. Szabo, P.E., Pfeifer, G.P. and Mann, J.R. (1998) Characterization of novel parent-specific epigenetic modifications upstream of the imprinted mouse H19 gene. Mol. Cell. Biol., 18, 6767-6776.
15. Thorvaldson, J.L., Duran, K.L. and Bartolomei, M.S. (1998) Deletion of the H19 differentially methylated domain results in loss of imprinted expression of H19 and Igf2. Genes Dev., 12, 3693-3702.
16. Fedoriw, A.M., Stein, P., Svoboda, P., Schultz, R.M. and Bartolomei, M.S. (2004) Transgenic RNAi reveals essential function for CTCF in H19 gene imprinting. Science, 303, 238-240.
17. Ohlsson, R., Renkawitz, R. and Lobanenkov, V. (2001) CTCF is a uniquely versatile transcription regulator linked to epigenetics and disease. Trends Genet., 17, 520-527.
18. Engel, N. and Bartolomei, M.S. (2003) Mechanisms of insulator function in gene regulation and genomic imprinting. Int. Rev. Cytol. 232, 89-127.
19. Moore, T., Constancia, M., Zubair, M., Bailleul, B., Feil, R., Sasaki, H. and Reik, W. (1997) Multiple imprinted sense and antisense transcripts, differential methylation and tandem repeats in a putative imprinting control region upstream of mouse Igf2. Proc. Natl Acad. Sci. USA, 94, 12509-12514.
20. Drewell, R.A., Arney, K.L., Arima, T., Barton, S.C., Brenton, J.D. and Surani, M.A. (2002) Novel conserved elements upstream of the H19 gene are transcribed and act as mesodermal enhancers. Development, 129, 1205-1213.
21. Oka, Y., Rozek, L.M. and Czech, M.P. (1985) Direct demonstration of rapid insulin-like growth factor II receptor internalization and recycling in rat adipocytes. Insulin stimulates 125I-insulin-like growth factor II degradation by modulating the IGF-II receptor recycling process. J. Biol. Chem., 260, 9435-9442.
22. Killian, J.K., Byrd, J.C., Jirtle, J.V., Munday, B.L., Stoskopf, M.K., MacDonald, R.G. and Jirtle, R.L. (2000) M6P/IGF2R imprinting evolution in mammals. Mol. Cell, 5, 707-716.
23. Barlow, D.P., Stoger, R., Herrmann, B.G., Saito, K. and 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.
24. Killian, J.K., Nolan, C.M., Wylie, A.A., Li, T., Vu, T.H., Hoffman, A.R. and Jirtle, R.L. (2001) Divergent evolution in M6P /IGF2R imprinting from the Jurassic to the Quaternary. Hum. Mol. Genet. 10, 1721-1728.
25. Zwart, R., Sleutels, F., Wutz, A., Schinkel, A.H. and Barlow, D.P. (2001) Bidirectional action of the Igf2r imprint control element on upstream and downstream imprinted genes. Genes Dev., 15, 2361-2366.
26. Sleutels, F., Zwart, R. and Barlow, D.P. (2002) The non-coding Air RNA is required for silencing autosomal imprinted genes. Nature, 415, 810-813.
27. Sleutels, F., Tjon, G., Ludwig, T. and Barlow, D.P. (2003) Imprinted silencing of Slc22a2 and Slc22a3 does not need transcriptional overlap between Igf2r and Air. EMBO J., 22 3696-3704.
28. Catchpoole, D., Lam, W.W., Valler, D., Temple, I.K., Joyce, J.A., Reik, W., Schofield, P.N. and Maher, E.R. (1997) Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome. J. Med. Genet., 34, 353-359.
29. Engemann, S., Strodicke, M., Paulsen, M., Franck, O., Reinhardt, R., Lane, N., Reik, W. and Walter, J. (2000) Sequence and functional comparison in the Beckwith-Wiedemann region: implications for a novel imprinting centre and extended imprinting [in process citation]. Hum. Mol. Genet., 9, 2691-2706.
30. Smilinich, N.J., Day, C.D., Fitzpatrick, G.V., Caldwell, G.M., Lossie, A.C., Cooper, P.R., Smallwood, A.C., Joyce, J.A., Schofield, P.N., Reik, W. et al. (1999) 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.
31. Fitzpatrick, G.V., Soloway, P.D. and Higgins, M.J. (2002) Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1. Nat. Genet., 32, 426-431.
32. Diaz-Meyer, N., Day, C.D., Khatod, K., Maher, E.R., Cooper, W., Reik, W., Junien, C., Graham, G., Algar, E., Der Kaloustian, V.M. et al. (2003) Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome. J. Med. Genet., 40, 797-801.
33. Lewis, A., Mitsuya, K., Umlauf, D., Smith, P., Dean, W., Walter, J., Higgins, M., Feil, R. and Reik, W. (2004) Imprinting on distal chromosome 7 in the placenta involves repressive histone methylation independent of DNA methylation. Nat. Genet., 36, 1291-1295.
34. Thakur, N., Tiwari, V.K., Thomassin, H., Pandey, R.R., Kanduri, M., Gondor, A., Grange, T., Ohlsson, R. and Kanduri, C. (2004) An antisense RNA regulates the bidirectional silencing property of the Kcnq1 imprinting control region. Mol. Cell. Biol., 24, 7855-7862.
35. Miyoshi, N., Wagatsuma, H., Wakana, S., Shiroishi, T., Nomura, M., Aisaka, K., Kohda, T., Surani, M.A., Kaneko-Ishino, T. and Ishino, F. (2000) 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.
36. Schmidt, J.V., Matteson, P.G., Jones, B.K., Guan, X.J. and Tilghman, S.M. (2000) The Dlk1 and Gtl2 genes are linked and reciprocally imprinted. Genes Dev., 14, 1997-2002.
37. Takada, S., Tevendale, M., Baker, J., Georgiades, P., Campbell, E., Freeman, T., Johnson, M.H., Paulsen, M. and Ferguson-Smith, A.C. (2000) Delta-like and gtl2 are reciprocally expressed, differentially methylated linked imprinted genes on mouse chromosome 12. Curr. Biol., 10, 1135-1138.
38. Paulsen, M., Takada, S., Youngson, N.A., Benchaib, M., Charlier, C., Segers, K., Georges, M. and Ferguson-Smith, A.C. (2001) Comparative sequence analysis of the imprinted Dlk1-Gtl2 locus in three mammalian species reveals highly conserved genomic elements and refines comparison with the Igf2-H19 region. Genome Res., 11, 2085-2094.
39. Cavaille, J., Seitz, H., Paulsen, M., Ferguson-Smith, A.C. and Bachellerie, J.P. (2002) 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, 1527-1538.
40. Yevtodiyenko, A., Carr, M.S., Patel, N. and Schmidt, J.V. (2002) Analysis of candidate imprinted genes linked to Dlk1-Gtl2 using a congenic mouse line. Mamm. Genome, 13, 633-638.
41. Seitz, H., Youngson, N., Lin, S.P., Dalbert, S., Paulsen, M., Bachellerie, J.P., Ferguson-Smith, A.C. and Cavaille, J. (2003) Imprinted microRNA genes transcribed antisense to a reciprocally imprinted retrotransposon-like gene. Nat. Genet., 34, 261-262.
42. Lin, S.P., Youngson, N., Takada, S., Seitz, H., Reik, W., Paulsen, M., Cavaille, J. and Ferguson-Smith, A.C. (2003) Asymmetric regulation of imprinting on the maternal and paternal chromosomes at the Dlk1-Gtl2 imprinted cluster on mouse chromosome 12. Nat. Genet. 35, 97-102.
43. Georges, M., Charlier, C. and Cockett, N. (2003) The callipyge locus: evidence for the trans interaction of reciprocally imprinted genes. Trends Genet., 19, 248-252.
44. Smit, M., Segers, K., Carrascosa, L.G., Shay, T., Baraldi, F., Gyapay, G., Snowder, G., Georges, M., Cockett, N. and Charlier, C. (2003) Mosaicism of Solid Gold supports the causality of a non-coding A-to-G transition in the determinism of the callipyge phenotype. Genetics, 163, 453-456.
45. Davis, E., Jensen, C.H., Schroder, H.D., Farnir, F., Shay-Hadfield, T., Kliem, A., Cockett, N., Georges, M. and Charlier, C. (2004) Ectopic expression of DLK1 protein in skeletal muscle of padumnal heterozygotes causes the callipyge phenotype. Curr. Biol., 14, 1858-1862.
46. Knoll, J.H.M., Nicholls, R.D., Magenis, R.E., Graham, J.M.J., Lalande, M. and Latt, S.A. (1989) Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am. J. Med. Genet., 32, 285-290.
47. Nicholls, R.D., Knoll, J.H.M., Butler, M.G., Karam, S. and Lalande, M. (1989) Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature, 342, 281-285.
48. Nicholls, R.D., Neumann, P. and Horsthemke, B. (1990) Toward mouse models of Prader-Willi, Angelman syndromes and genetic imprinting. Am. J. Hum. Gen., 47, A230.
49. Cattanach, B.M., Barr, J.A., Evans, E.P., Burtenshaw, M., Beechey, C.V., Leff, S.E., Brannan, C.I., Copeland, N.G., Jenkins, N.A. and Jones, J. (1992) A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression. Nat. Genet., 2 270-274.
50. Leff, S.E., Brannan, C.I., Reed, M.L., Ozcelik, T., Francke, U., Copeland, N.G. and Jenkins, N.A. (1992) Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region. Nat. Genet., 2, 259-264.
51. Cassidy, S.B. (1984) Prader-Willi syndrome. Curr. Prob. Pediatr., 14, 1-55.
52. Angelman, H. (1965) 'Puppet' children: a report on three cases. Dev. Med. Child. Neurol., 7, 681-688.
53. Kishino, T., Lalande, M. and Wagstaff, J. (1997) UBE3A/E6-AP mutations cause Angelman syndrome. Nat. Genet., 15, 70-73.
54. Albrecht, U., Sutcliffe, J.S., Cattanach, B.M., Beechey, C.V., Armstrong, D., Eichele, G. and Beaudet, A.L. (1997) Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Nat. Genet., 17, 75-78.
55. Meguro, M., Kashiwagi, A., Mitsuya, K., Nakao, M., Kondo, I., Saitoh, S. and Oshimura, M. (2001) A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome. Nat. Genet., 28, 19-20.
56. Rougeulle, C., Glatt, H. and Lalande, M. (1997) The Angelman syndrome candidate gene, UBE3A-AP, is imprinted in brain. Nat. Genet., 17, 14-15.
57. Vu, T.H. and Hoffmann, A.R. (1997) Imprinting of Angelman sydrome gene, UBE3A, is restricted to brain. Nat. Genet., 17, 12-13.
58. Cavaille, J., Buiting, K., Kiefmann, M., Lalande, M., Brannan, C.I., Horsthemke, B., Bachellerie, J.P., Brosius, J. and Huttenhofer, A. (2000) Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization. Proc. Natl Acad. Sci. USA, 97, 14311-14316.
59. Rougeulle, C., Cardoso, C., Fontes, M., Colleaux, L. and Lalande, M. (1998) An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript. Nat. Genet., 19, 15-16.
60. Chamberlain, S.J. and Brannan, C.I. (2001) The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a. Genomics 73, 316-322.
61. Buiting, K., Saitoh, S., Gross, S., Dittrich, B., Schwartz, S., Nicholls, R.D. and Horsthemke, B. (1995) Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat. Genet., 9, 395-400.
62. Buiting, K., Lich, C., Cottrell, S., Barnicoat, A. and Horsthemke, B. (1999) A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp. Hum. Genet., 105, 665-666.
63. Bressler, J., Tsai, T.F., Wu, M.Y., Tsai, S.F., Ramirez, M.A., Armstrong, D. and Beaudet, A.L. (2001) The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice. Nat. Genet., 28, 232-240.
64. Tsai, T.F., Jiang, Y.H., Bressler, J., Armstrong, D. and Beaudet, A.L. (1999) Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome. Hum. Mol. Genet., 8, 1357-1364.
65. Tsai, T.F., Armstrong, D. and Beaudet, A.L. (1999) Necdin deficient mice do not show lethality or the obesity and infertility of Prader-Willi syndrome. Nat. Genet., 22, 15-16.
66. Gerard, M., Hernandez, L., Wevrick, R. and Stewart, C.L. (1999) Disruption of the mouse necdin gene results in early post-natal lethality. Nat. Genet., 23, 199-202.
67. Ren, J., Lee, S., Pagliardini, S., Gerard, M., Stewart, C.L., Greer, J.J. and Wevrick, R. (2003) Absence of Ndn, encoding the Prader-Willi syndrome-deleted gene necdin, results in congenital deficiency of central respiratory drive in neonatal mice. J. Neurosci. 23, 1569-1573.
68. Muscatelli, F., Abrous, D.N., Massacrier, A., Boccaccio, I., Le Moal, M., Cau, P. and Cremer, H. (2000) Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome. Hum. Mol. Genet., 9, 3101-3110.
69. Yang, T., Adamson, T.E., Resnick, J.L., Leff, S., Wevrick, R., Francke, U., Jenkins, N.A., Copeland, N.G. and Brannan, C.I. (1998) A mouse model for Prader-Willi syndrome imprinting-centre mutations. Nature Gen., 19, 25-31.
70. Runte, M., Varon, R., Horn, D., Horsthemke, B. and Buiting, K. (2004) Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome. Hum. Genet., 116, 228-230.
71. Weinstein, L.S., Liu, J., Sakamoto, A., Xie, T. and Chen, M. (2004) Minireview: GNAS: normal and abnormal functions. Endocrinology, 145, 5459-5464.
72. Weinstein, L.S., Shenker, A., Gejman, P.V., Merino, M.J., Friedman, E. and Spiegel, A.M. (1991) Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N. Engl. J. Med., 325, 1688-1695.
73. Schwindinger, W.F., Francomano, C.A. and Levine, M.A. (1992) Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. Proc. Natl Acad. Sci. USA, 89, 5152-5156.
74. Yu, S., Yu, D., Lee, E., Eckhaus, M., Lee, R., Corria, Z., Accili, D., Westphal, H. and Weinstein, L.S. (1998) Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsa) knockout mice is due to tissue-specific imprinting of the Gsa gene. Proc. Natl Acad. Sci. USA, 95 8715-8720.
75. Mantovani, G., Ballare, E., Giammona, E., Beck-Peccoz, P. and Spada, A. (2002) The Gsa gene: predominant maternal origin of transcription in human thyroid gland and gonads. J. Clin. Endocrinol. Metab., 87, 4736-4740.
76. Weiss, U., Ischia, R., Eder, S., Lovisetti-Scamihorn, P., Bauer, R. and Fischer-Colbrie, R. (2000) Neuroendocrine secretory protein 55 (NESP55): alternative splicing onto transcripts of the GNAS gene and posttranslational processing of a maternally expressed protein. Neuroendocrinology, 71, 177-186.
77. Hayward, B.E., Kamiya, M., Strain, L., Moran, V., Campbell, R., Hayashizaki, Y. and Bonthron, D.T. (1998) The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins. Proc. Natl Acad. Sci. USA, 95, 10038-10043.
78. Hayward, B.E., Moran, V., Strain, L. and Bonthron, D.T. (1998) Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc. Natl Acad. Sci. USA, 95, 15475-15480.
79. Wroe, S.F., Kelsey, G., Skinner, J.A., Bodle, D., Ball, S.T., Beechey, C.V., Peters, J. and Williamson, C.M. (2000) An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus. Proc. Natl Acad. Sci. USA, 97, 3342-3346.
80. Liu, J., Yu, S., Litman, D., Chen, W. and Weinstein, L.S. (2000) Identification of a methylation imprint mark within the mouse Gnas locus. Mol. Cell. Biol., 20, 5808-5817.
81. Coombes, C., Arnaud, P., Gordon, E., Dean, W., Coar, E.A., Williamson, C.M., Feil, R., Peters, J. and Kelsey, G. (2003) Epigenetic properties and identification of an imprint mark in the Nesp-Gnasxl domain of the mouse Gnas imprinted locus. Mol. Cell. Biol., 23, 5475-5488.
82. Patten, J.L., Johns, D.R., Valle, D., Eil, C., Gruppuso, P.A., Steele, G., Smallwood, P.M. and Levine, M.A. (1990) Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. N. Engl. J. Med., 322, 1412-1419.
83. Weinstein, L.S., Gejman, P.V., Friedman, E., Kadowaki, T., Collins, R.M., Gershon, E.S. and Spiegel, A.M. (1990) Mutations of the Gsα-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc. Natl Acad. Sci. USA, 87, 8287-8290.
84. Williamson, C.M., Schofield, J., Dutton, E.R., Seymour, A., Beechey, C.V., Edwards, Y.H. and Peters, J. (1996) Glomerular-specific imprinting of the mouse Gnas gene: how does this relate to hormone resistance in Albright hereditary osteodystrophy. Genomics, 36 280-287.
85. Davies, S.J. and Hughes, H.E. (1993) Imprinting in Albright's hereditary osteodystrophy. J. Med. Genet., 30, 101-103.
86. Germain-Lee, E.L., Ding, C.L., Deng, Z., Crane, J.L., Saji, M., Ringel, M.D. and Levine, M.A. (2002) Paternal imprinting of Gsα in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a. Biochem. Biophys. Res. Commun., 296, 67-72.
87. Williamson, C.M., Ball, S.T., Nottingham, W.T., Skinner, J.A., Plagge, A., Turner, M.D., Powles, N., Hough, T., Papworth, D., Fraser, W.D. et al. (2004) A cis-acting control region is required exclusively for the tissue-specific imprinting of Gnas. Nat. Genet., 36, 894-899.
88. Plagge, A., Gordon, E., Dean, W., Boiani, R., Cinti, S., Peters, J. and Kelsey, G. (2004) The imprinted signaling protein XL alpha s is required for postnatal adaptation to feeding. Nat. Genet., 36, 818-826.
89. Bastepe, M., Frohlich, L.F., Linglart, A., Abu-Zahra, H.S., Tojo, K., Ward, L.M. and Juppner, H. (2005) Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nat. Genet., 37 25-27.
90. Brown, C.J., Ballabio, A., Rupert, J.L., Lafreniere, R.G., Grompe, M., Tonlorenzi, R. and Willard, H.F. (1991) A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature, 349, 38-44.
91. Brockdorff, N., Ashworth, A., Kay, G.F., Cooper, P., Smith, S., McCabe, V.M., Norris, D.P., Penny, G.D., Patel, D. and Rastan, S. (1991) Conservation of position and exclusive expression of mouse Xist from the inactive X chromosome. Nature, 351, 329-331.
92. Clemson, C.M., McNeil, J.A., Willard, H.F. and Lawrence, J.B. (1996) XIST RNA paints the inactive X chromosome at interphase: evidence for a novel RNA involved in nuclear/chromosome structure. J. Cell Biol., 132, 259-275.
93. Brown, C.J., Hendrich, B.D., Rupert, J.L., Lafreniere, R.G., Xing, Y., Lawrence, J. and Willard, H.F. (1992) The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus. Cell, 71, 527-542.
94. Brockdorff, N., Ashworth, A., Kay, G.F., McCabe, V.M., Norris, D.P., Cooper, P.J., Swift, S. and Rastan, S. (1992) The product of the mouse Xist gene is a 15 kb inactive X-specific transcript containing no conserved ORF and located in the nucleus. Cell, 71, 515-526.
95. Hendrich, B.D., Brown, C.J. and Willard, H.F. (1993) Evolutionary conservation of possible functional domains of the human and murine XIST genes. Hum. Mol. Genet, 2, 663-672.
96. Huynh, K.D. and Lee, J.T. (2003) Inheritance of a pre-inactivated paternal X chromosome in early mouse embryos. Nature 426, 857-862.
97. Okamoto, I., Otte, A.P., Allis, C.D., Reinberg, D. and Heard, E. (2004) Epigenetic dynamics of imprinted X inactivation during early mouse development. Science, 303, 644-649.
98. Mak, W., Nesterova, T.B., de Napoles, M., Appanah, R., Yamanaka, S., Otte, A.P. and Brockdorff, N. (2004) Reactivation of the paternal X chromosome in early mouse embryos. Science, 303, 666-669.
99. Brockdorff, N. (2002) X-chromosome inactivation: closing in on proteins that bind Xist RNA. Trends Genet., 18, 352-358.
100. Takagi, N. and Sasaki, M. (1975) Preferential inactivation of the paternally derived X chromosome in the extraembryonic membranes of the mouse. Nature, 256, 640-642.
101. Migeon, B.R. (1998) Non-random X chromosome inactivation in mammalian cells. Cytogenet. Cell Genet., 80, 142-148.
102. Lee, J.T., Davidow, L.S. and Warshawsky, D. (1999) Tsix a gene antisense to Xist at the X-inactivation centre. Nat. Genet., 21, 400-404.
103. Lee, J.T. and Lu, N. (1999) Targeted mutagenesis of Tsix leads to nonrandom X inactivation. Cell, 99, 47-57.
104. Chao, W., Huynh, K.D., Spencer, R.J., Davidow, L.S. and Lee, J.T. (2002) CTCF, a candidate trans-acting factor for X-inactivation choice. Science, 295, 345-347.
105. Prissette, M., El-Maarri, O., Arnaud, D., Walter, J. and Avner, P. (2001) Methylation profiles of DXPas34 during the onset of X-inactivation. Hum. Mol. Genet., 10, 31-38.
106. Sado, T., Okano, M., Li, E. and Sasaki, H. (2004) De novo DNA methylation is dispensable for the initiation and propagation of X chromosome inactivation. Development, 131, 975-982.
107. Ferguson-Smith, A.C. (2004) X inactivation: pre- or post-fertilisation turn-off? Curr. Biol., 14, R323-R325.
108. Shibata, S. and Lee, J.T. (2004) Tsix transcription- versus RNA-based mechanisms in Xist repression and epigenetic choice. Curr. Biol., 14, 1747-1754.
109. Dallosso, A.R., Hancock, A.L., Brown, K.W., Williams, A.C., Jackson, S. and Malik, K. (2004) Genomic imprinting at the WT1 gene involves a novel coding transcript (AWT1) that shows deregulation in Wilms' tumours. Hum. Mol. Genet., 13, 405-415.
110. Wang, Y., Joh, K., Masuko, S., Yatsuki, H., Soejima, H., Nabetani, A., Beechey, C.V., Okinami, S. and Mukai, T. (2004) The mouse Murr1 gene is imprinted in the adult brain, presumably due to transcriptional interference by the antisense-oriented U2af1-rs1 gene. Mol. Cell. Biol., 24, 270-279.
111. Hu, J.F., Balaguru, K.A., Ivaturi, R.D., Oruganti, H., Li, T., Nguyen, B.T., Vu, T.H. and Hoffman, A.R. (1999) Lack of reciprocal genomic imprinting of sense and antisense RNA of mouse insulin-like growth factor II receptor in the central nervous system. Biochem. Biophys. Res. Commun., 257, 604-608.
112. McCarrey, J.R., Watson, C., Atencio, J., Ostermeier, G.C., Marahrens, Y., Jaenisch, R. and Krawetz, S.A. (2002) X-chromosome inactivation during spermatogenesis is regulated by an Xist/Tsix independent mechanism in the mouse. Genesis, 34, 257-266.
113. Haig, D. (2004) Genomic imprinting and kinship: how good is the evidence? Annu. Rev. Genet., 38, 553-585.