Genomic imprinting: Potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes

Molecular Human Reproduction

Volumn 3, Issue 4, 1997, Pages 321-332

  Glenn, Christopher C ^a   Driscoll, Daniel J ^a   Yang, Thomas P ^a   Nicholls, Robert D ^b  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

Author keywords

Angelman syndrome ; Dna methylation ; Genomic imprinting ; Imprinting centre ; Prader willi syndrome

Indexed keywords

ANIMAL; CHROMOSOME 15; CHROMOSOME DELETION; CHROMOSOME MAP; COMPARATIVE STUDY; DNA METHYLATION; FEMALE; GENE EXPRESSION; GENETICS; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; HUMAN; MALE; MOUSE; MUTATION; PATERNITY; PHENOTYPE; PRADER WILLI SYNDROME; REVIEW;

ANGELMAN SYNDROME; ANIMALS; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 15; DNA METHYLATION; FEMALE; GENE EXPRESSION; GENOMIC IMPRINTING; HUMANS; MALE; MICE; MUTATION; PATERNITY; PHENOTYPE; PRADER-WILLI SYNDROME;

EID: 0031114837     PISSN: 13609947     EISSN: None     Source Type: Journal    
DOI: 10.1093/molehr/3.4.321     Document Type: Article

References (110)

1. Amos-Landgraf, J., Gottlieb, W., Rogan, P.K. et al. (1994) Chromosome breakage in Prader-Willi and Angelman syndrome deletions may involve recombination between a repeat at the proximal and distal breakpoints. Am. J. Hum. Genet., 55 (Suppl.), A38.
2. Antequera, P. and Bird, A. (1993) Number of CpG islands and genes in human and mouse. Proc. Nat Acad. Sci. USA, 90, 11995-11999.
3. Barr, J.A., Jones, J., Glenister, P.H. and Cattanach B.M. (1995) Ubiquitous expression and imprinting of Snrpn in the mouse. Mamm. Gen., 6, 405-407.
4. Bartolomei M.S., Zemel, S. and Tilghman, S.M. (1991) Parental imprinting of the mouse H19 gene. Nature, 352, 153-155.
5. Bartolomei, M.S., Webber, A.L., Brunkow, M.E. and Tilghman, S.M. (1993) Epigenetic mechanisms underlying the imprinting of the mouse H19 gene. Genes Dev., 7, 1663-1673.
6. Bestor, T.H. (1993) Methylation patterns in the vertebrate genome. J. NIH Res., 5, 57-60.
7. Bestor, T.H. and Ingram, V.M (1983) Two DNA methyltransferases from murine erythroleukemia cells: purification, sequence specificity and mode of interaction with DNA. Proc. Nat. Acad. Sci. USA, 82, 2674-2678.
8. Brandeis, M., Kafri, T., Ariel, M. et al. (1993) The ontogeny of allele-specific methylation associated with imprinted genes in the mouse. EMBO J., 12, 3669-3677.
9. 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.
10. Brockdorff, N., Ashworth, A., Kay, G.F. et al. (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.
11. Brown, C.J., Hendrich, B.D., Rupert, J.L. et al. (1992) The human XIST gene: analysis of 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus. Cell, 71, 527-542.
12. Buiting, K., Saitoh, S., Gross, S. et al. (1995) Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat. Genet., 9, 395-400.
13. Buiting, K., Dittrich, B., Endele, S. et al., (1997) Identification of novel exons 3′ to the human SNRPN gene. Genomics, 40, 132-137.
14. Burke, L.H., Wiley, J.E., Glenn, C.C. et al. (1996) Familial cryptic translocation resulting in Angelman syndrome: implications for imprinting or location of the Angelman gene? Am. J. Hum. Genet., 58, 777-784.
15. Butler, M.G. (1990) Prader-Willi syndrome: current understanding of cause and diagnosis. Am. J. Med. Genes., 35, 319-335.
16. Cassidy, S.B., Lai L.W., Erickson R.P. et al. (1992) Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. Am. J. Hum. Genet., 51, 701-708.
17. Cattanach, B.M., Barr, J.A., Evans, E.P. et al. (1992) A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression. Nat. Genet., 2, 270-274.
18. Cedar, H. (1988) DNA methylation and gene activity. Cell, 53, 3-4.
19. Ciechanover, A. (1994) The ubiquitin-proteosome proteolytic pathway. Cell, 79, 13-21.
20. Chaillet, J.R., Knoll, J.H.M., Horsthemke, B. and Lalande, M. (1991) The syntenic relationship between the critical deletion region for the Prader-Willi/Angelman syndromes and proximal mouse chromosome 7. Genomics, 11, 773-776.
21. Chan, C.T., Clayton-Smith, J., Cheng, X.Z. et al. (1993) Molecular mechanisms in Angelman syndrome: a survey of 93 patients. J. Med. Genet., 30, 895-902.
22. Christian, S., Robinson, W.P., Huang, B. et al. (1995) Molecular characterization of two proximal deletion breakpoint regions in Prader-Willi and Angelman syndrome patients. Am. J. Hum. Genet., 57, 40-48.
23. Clayton-Smith, J., Driscoll, D.J., Waters, M.F. et al. (1993) Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome. Am. J. Med Genet., 47, 683-686.
24. 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.
25. Dittrich, B., Robinson, W.P., Knoblauch, H. et al. (1992) Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. Hum. Genet., 90, 313-315.
26. Dittrich, B., Buiting, K., Gross, S. and Horsthemke, B. (1993) Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region. Hum. Mol. Genet, 2, 1995-1999.
27. Dittrich, B., Buiting, K., Korn, B. et al. (1996) Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat. Genet., 14, 163-170.
28. Driscoll, D.J. (1994) Genomic imprinting in humans. In Friedmann, T. (ed.), Molecular Genetic Medicine. Vol. 4. Academic Press, New York, pp. 37-77.
29. Driscoll D.J., Waters, M.F., Williams, C.A. et al. (1992) A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes. Genomics. 13, 917-924.
30. Drouin, R., Lemieux, N. and Richer, C.L. (1990) Analysis of DNA replication during S-phase by means of dynamic chromosome banding at high resolution. Chromosoma, 99, 273-280.
31. Dutrillaux, B., Couturier, J., Richer, C.L. and Viegas-Pequignot, E. (1976) Sequence of DNA replication in 227 R- and Q-bands of human chromosomes using a BrdU treatment. Chromosoma, 58, 51-61.
32. Ferguson-Smith, A.C., Sasaki, H., Cattanach, B.M. and Surani, M.A. (1993) Parental-origin-specific epigenetic modification of the mouse H19 gene. Nature, 362, 751-755.
33. Gabriel, J., Gottlieb, W., Garcia, A. et al. (1994) A common deletion polymorphism in the Prader-Willi syndrome common critical region. Hum. Mol Genet., 3, 1912.
34. Gardiner-Garden, M. and Frommer, M. (1987) CpG islands in vertebrate genomes. J. Mol. Biol., 196, 261-282.
35. Gillessen-Kaesbach, G., Robinson, W., Lohmann, D. et al. (1995) Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome. Hum. Genet., 96, 638-643.
36. Glenn, C.C., Nicholls, R.D., Robinson, W.P. et al. (1993a) Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. Hum. Mol. Genet., 2, 1377-1382.
37. Glenn, C.C., Porter, K.A., Jong, M.T.C. et al. (1993b) Functional imprinting and epigenetic modification of the human SNRPN gene. Hum. Mol. Genet., 2, 2001-2005.
38. Glenn, C.C., Saitoh, S., Jong, M.T.C. et al. (1996) Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene. Am. J. Hum. Genet., 58, 335-346.
39. Gruenbaum, Y., Cedar, H. and Razin, A. (1982) Substrate and sequence specificity of a eukaryotic DNA methylase. Nature, 295, 620-622.
40. Guthrie, C. (1991) Messenger RNA splicing in yeast: clues to why the splicesome is a ribonucleoprotein. Science, 253, 157-163.
41. Hao, Y., Crenshaw, T., Moulton, T. et al. (1993) Tumour-suppressor activity of H19 RNA. Nature, 356, 764-767.
42. Holm, V. (1981) The diagnosis of Prader-Willi syndrome. In Holm, V., Sulzbacher, S. and Pipes, P. (eds), Prader-Willi Syndrome. University Park Press, Baltimore, pp. 27-44.
43. Holm, V.A., Cassidy, S.B., Butler, M.G. et al. (1993) Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics, 91, 398-402.
44. Huntriss, J.D., Barr, J.A., Horn, D.A. et al. (1994) Mice lacking Snrpn expression show normal regulation of neuronal alternative spicing events. Mol Biol. Rep., 20, 19-25.
45. Kalscheur, V.M., Mariman, E.C., Schepens, M.T. et al. (1993) The insulin-like growth factor type-2 receptor gene is imprinted in the mouse but not in humans. Nat. Genet., 5, 74-78.
46. Kay, G.F., Penny, G.D., Patel, D. et al. (1993) Expression of Xist during mouse development suggests a role in the initiation of X chromosome inactivation. Cell, 72, 171-182.
47. Keshet I., Lieman-Hurwitz J. and Cedar H. (1986) DNA methylation affects the formation of active chromatin. Cell, 44, 535-543.
48. Kishino, T., Lalande, M. and Wagstaff, J. (1997) UBE3A/E6AP mutations cause Angelman syndrome. Nat. Genet., 15, 70-73.
49. Kitsberg, D., Selig, S., Brandels, M. et al. (1993) Allele specific replication timing of imprinted gene regions. Nature, 364, 459-463.
50. Knoll, J.H.M., Nicholls, R.D., Magenis, R.E. et al. (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.
51. Knoll, J.H.M., Nicholls, R.D., Magenis, R.E. et al. (1990) Angelman syndrome: Three molecular classes identified with chromosome 15q11-q13 specific DNA markers. Am. J. Hum. Genet., 47, 149-154.
52. Knoll, J.H.M., Cheng, S.D. and Lalande, M. (1994) Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region. Nat. Genet., 6, 41-46.
53. Larson, E. Gundersen, G., Lopez, R. and Prydz, H. (1992) CpG islands as gene markers in the human genome. Genomics, 13, 1095-1107.
54. LaSalle, J.M. and Lalande, M. (1995) Domain organization of allele-specific replecation within the GABRB3 gene cluster requires a biparental 15q11-q13 contribution Nat. Genet., 9, 386-394
55. LaSalle, J.M. and Lalande, M. (1996) Homologous association of oppositely imprinted chromosome domains. Science, 272, 725-728.
56. Latham, K.E., Doherty, A.S., Scott, C.D. and Schultz, R.M. (1994) Igf2r and Igr2 gene expression in androgenetic, gynogenetic, and parthenogenetic preimplantation mouse embryos: absence of regulation by genomic imprinting. Genes Dev., 8, 290-299.
57. Latt, S.A. (1973) Microfluorometric detection of deoxynbonucleic acid replication in human metaphase chromosomes. Proc. Nat. Acad. Sci. USA, 70, 3395-3399.
58. Leff, S.E., Brannan, C.I., Reed, M.L. et al. (1992) Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region. Nat Genet., 2, 259-264.
59. Li, S., Klein, E.S., Russo, A.F. et al. (1989) Isolation of cDNA clones encoding small nuclear ribonucleoparticle-associated proteins with different tissue specificities. Proc. Natl. Acad. Sci. USA, 86, 9778-9782.
60. Li, E., Beard, C. and Jaenisch, R. (1994) Role for DNA methylation in genomic imprinting. Nature, 366, 362-365.
61. Luhrmann, R., Kastner, B. and Bach, M. (1990) Structure of splicesomal snRNPs and their role in pre-mRNA splicing. Biochem. Biophys. Acta. 1087, 265-292.
62. Malcolm, S., Clayton-Smith, J., Nichols, M. et al. (1991) Uniparental paternal disomy in Angelman's syndrome. Lancet, 337, 694-697.
63. Magenis, E.R., Toth-Fejel, S., Allen, L.J. et al. (1990) Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences. Am. J. Med. Genet., 35, 333-349.
64. Malcolm, S., Clayton-Smith, J., Nichols, M. et al. (1991) Uniparental paternal disomy in Angelman's syndrome. Lancet, 337, 694-697.
65. Mascari, M.J., Gottlieb, W., Rogan, P. et al. (1992) The frequency of uniparental disomy in Prader-Willi syndrome: implications for molecular diagnosis. New. Engl. J. Med., 326, 72-76.
66. Matsuura, T., Sutcliffe, J.S., Fang, P. et al. (1997) De novo truncation mutations in E6-AP ubiqitin-protein lagase gene (UBE3A) in Angelman syndrome. Nat. Genet., 15, 74-77.
67. McAllister, G., Amara, S.G. and Lerner, M.R. (1988) Tissue-specific expression and cDNA cloning of small nuclear ribonucleoprotein-associated polypeptide N. Proc. Natl. Acad. Sci. USA, 85, 5296-5300.
68. McAllister, G., Roby-Shemkovitz, A., Amara, S.G. and Lemer, M.R. (1989) cDNA sequence of the rat U snRNP-associated protein N: description of a potential Sm epitope. EMBO J., 8, 1177-1181.
69. Michaelis, R.C., Skinner, S.A., Lethco, B.A. et al. (1995) Deletion involving D15S113 in a mother and son without Angelman syndrome: refinement of the Angelman syndrome critical deletion region. Am J. Med. Genet., 55, 120-126.
70. Migeon, B.R. (1994) X-chromosome inactivation: molecular mechanisms and genetic consequences. Trends Genet., 10, 230-235.
71. Mutirangura, A., Jayakumar, A., Sutcliffe, J.S. et al. (1993) A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene. Genomics, 18, 546-552.
72. Nakao, M., Sutcliffe, J.S., Durtschi, B. et al. (1994) Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E). Hum. Mol Genet., 3, 309-315.
73. Nicholls, R.D. (1989) A cDNA from proximal human chromosome 15q maps near Mtv-1 on mouse chromosome 7. Mouse Newsletter, 84, 87-88.
74. Nicholls, R.D. (1994) Imprinting mechanisms and genes involved in Prader-Willi and Angelman syndromes. Sem. Dev. Biol., 5, 311-322.
75. Nicholls, R.D., Horsthemke, B. and Neumann, P.E. (1991) Mouse chromosome mapping of clones from the PWS/AS genetic region. Mouse Genome, 89, 254.
76. Nicholls, R.D., Pai, G.S., Gottlieb, W. and Cantú, E.S. (1992) Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome. Ann. Neurol., 32, 512-518.
77. Nicholls, R.D., Knoll, J.H., Glatt, K. et al. (1989a) Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome. Am. J. Med. Genet., 33, 66-77.
78. Nicholls, R.D., Knoll, J.H., Butler, M.G. et al. (1989b) Genetic imprinting suggested by maternal uniparental heterodisomy in nondeletion Prader-Willi syndrome Nature, 342, 281-285.
79. Nicholls, R.D., Gottlieb, W., Russell, L.B. et al. (1993) Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse. Proc. Natl. Acad. Sci. USA, 90, 2050-2054.
80. Ogawa, O., Eccles, M.R, Szeto, J. et al. (1993a) Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour. Nature, 362, 749-751.
81. Ohlsson, R., Barlow, D. and Surani, A. (1994) Impressions of imprints. Trends Genet, 10, 415-417.
82. Ozçelik T., Leff S., Robinson W. et al. (1992) Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nat. Genet., 2, 265-269.
83. Purvis-Sraith, S.G., Saville, T., Manass, S. et al. (1992) Uniparental disomy 15 resulting from 'correction' of an initial trisomy 15. Am. J. Hum. Genet., 50, 1348-1350.
84. Razin, A. and Cedar, H. (1994) DNA methylation and genomic imprinting. Cell, 77, 473-476.
85. Reed, M.L. and Leff, S.E. (1994) Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome Nat. Genet., 6, 163-167.
86. Reis, A., Dittnch, B., Greger, V. et al. (1994) Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J. Hum Genet., 54, 741-747.
87. Robinson, W.P., Bottani, A., Yagang, X. et al. (1991) Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. Am. J. Hum. Genet., 49, 1219-1234.
88. Robinson, W.P., Bernasconi, F., Mutirangura, P. et al. (1993) Nondisjunction of chromosome 15. Origin and recombination. Am. J. Hum. Genet., 53, 740-751.
89. 3-subunit gene. Lancet, 339, 366-367.
90. Saitoh, S., Harada, N., Jinno, Y. et al. (1994) Molecular and clinical study of 61 Angelman Syndrome patients. Am. J. Med. Genet., 52, 158-163.
91. Saitoh, S., Buiting, K., Rogan, P.K. et al. (1996) Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations. Proc. Nat. Acad. Sci. USA, 93, 7811-7815
92. Saitoh, S., Cassidy, S.B., Conroy, J.M. et al. (1997) Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome imprinting mutation patients. Am. J. Med. Genet 68, 195-206.
93. Sasaki, H., Jones, P.A., Chaillet, J.R. et al. (1992) Parental imprinting: potentially active chromatin of the repressed maternal allele of the mouse insulin-like growth factor II (Igf2) gene. Gen. Dev., 6, 1843-1856.
94. Scheffner, M., Nuber, U. and Huibregtse, J.M. (1995) Protein ubiquitination involving an E1-E2-E3 enzyme ubiquitin thioester cascade. Nature, 373, 81-83.
95. Schmauss, C. and Lerner, M.R. (1990) The closely related small nuclear ribonucleoprotein polypeptides N and B/B' are distinguishable by antibodies as well as by differences in their mRNAs and gene structures. J. Biol. Chem., 265, 10733-10739.
96. Schmauss, C., McAllister, G., Ohosone, Y. et al. (1989) A comparison of snRNP-associated Sm-autoantigens: human N, rat N and human B/B'. Nucleic Acids Res., 17, 1773-1743.
97. Schmauss, C., Brines, ML. and Lerner, M.R. (1992) The gene encoding the small nuclear ribonucleoprotein-associated protein N is expressed at high levels in neurons. J. Biol. Chem., 267, 8521-8529.
98. Schulze, A., Hansen, C., Skakkebæk, N.E. et al. (1996) Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint. Nat. Genet., 12, 452-454.
99. Sharpe, N.G., Williams, D.G. and Latchman, D.S. (1990) Regulated expression of the small nuclear ribonucleoprotein particle protein SmN in embryonic stem cell differentiation. Mol. Cell. Biol., 10, 6817-6820.
100. Smrzka, O.W., Faé, I., Stöger, R. et al. (1995) Conservation of a maternal-specific methylation signal at the human IGF2R locus. Hum. Mol. Genet., 4, 1945-1952.
101. Stöger, R., Kubecka, P., Liu, C.G. et al. (1993) Maternal specific methylation of the imprinted mouse Igf2r locus identifies the expressed locus as carrying the imprinting signal. Cell, 73, 61-71.
102. Sun, Y.M., Nicholls, R.D., Butler, M.G. et al. (1996) Breakage in the SNRPN locus in a balanced 46, XY, t(15;19) Prader-Willi syndrome patient. Hum. Mol. Genet., 5, 517-524.
103. Sutcliffe, J.S., Nakap, M., Christian, S. et al. (1994) Deletions of a differentially methylated CpG island at the SNRPN gene definite a putative imprinting control region. Nat. Genet., 8, 52-58.
104. Tremblay, K.D., Saam, J., Ingram, R.S. et al. (1995) A paternal specific methylation imprint marks the alleles of the mouse H19 gene. Nat. Genet., 9, 407-413.
105. Villar, A.J. and Pederson, R.A. (1994) Parental imprinting of the Mas protooncogene in mouse. Nat. Genet., 8, 373-379.
106. 3 subunit gene: Characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7 Genomics, 11, 1071-1078
107. Wevrick, R., Kerns, J.A. and Francke, U. (1994) Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. Hum. Mol. Genet., 3, 1877-1882
108. Williams, C.A., Zori, R.T., Stone, J.W. et al. (1990) Maternal origin of 15q11q13 deletions in Angelman syndrome suggests a role for genomic imprinting. Am. J. Med. Genet., 35, 350-353.
109. Williams, C.A., Angelman, H., Clayton-Smith, J. et al. (1995) Angelman synrome: a consensus for diagnostic criteria. Am. J. Med. Genet., 56, 237-238.
110. Zackowski, J.L., Nicholls, R.D., Gray B.A. et al. (1993) Cytogenetic and molecular analysis in Angelman syndrome. Am. J. Med. Genet., 46, 7-11.