The sins of the fathers and mothers: Genomic imprinting in mammalian development

Cell

Volumn 96, Issue 2, 1999, Pages 185-193

  Tilghman, Shirley M ^a  

^a PRINCETON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DEVELOPMENTAL GENETICS; GENE EXPRESSION; GENE SILENCING; GENOME IMPRINTING; GERM LINE; HUMAN; MAMMAL; NONHUMAN; ONTOGENY; PRIORITY JOURNAL; REVIEW;

MAMMALIA;

EID: 0033593288     PISSN: 00928674     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0092-8674(00)80559-0     Document Type: Review

References (66)

1. Allen, N.D., Logan, K., Lally, G., Drage, D.J., Morris, M.L, and Keverne, E.E. (1995). Distribution of parthenogenetic cells in the mouse brain and their influence on brain development and behavior. Proc. Natl. Acad. Sci. USA 92, 10782-10786.
2. Barlow, D.P. (1997). Competition - a common motif for the imprinting mechanism? EM BO J. 16, 6899-6905.
3. Bartolomei, M.S., and Tilghman, S.M. (1992). Parental imprinting of mouse chromosome 7. Semin. Dev. Biol. 3, 107-117.
4. Brandeis, M., Frank, D., Keshet, I., Siegfried, Z., Mendelsohn, M., Nemes, A., Temper, V., Razin, A., and Cedar, H. (1994). Sp1 elements protect a CpG island from de novo methylation. Nature 371, 435-438.
5. 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.
6. Buiting, K., Ditlrich, B., Gross, S., Lieh, C., Farber, C., Buchholz, T., Smilh, E., Reis, A., Burger, J., Nothen, M.M., el al. (1998). Sporadic imprinling defecfs in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genelic counseling, and prenatal diagnosis. Am. J. Hum. Genet 63, 170-180.
7. Caspary, T., Cleary, M.A., Baker, C.C., Guan, X.-J., and Tilghman, S.M. (1998). Multiple mechanisms regulate imprinling of fhe mouse distal chromosome 7 gene cluster. Mol. Cell. Biol. 18, 3466-3474.
8. Cattanach, B.M. (1986). Parental origin effects in mice. J. Embrol. Exp. Morph. Suppl. 97, 137-150.
9. Cooper, D.W., Johnston, P.G., Walson, J.M., and Graves, U.A.M. (1993). X-inactivation in marsurpials and monotremes. Semin. Dev. Biol. 4, 117-128.
10. Dean, W., Bowden, L., Aitchison, A., Klose, J., Moore, T., Meneses, J.J., Reik, W., and Feil, R. (1998). Altered imprinted gene methylation and expression in completely ES cell-derived mouse fetuses: association with aberrant phenotypes. Development 125, 2273-2282.
11. DeChiara, T.M., Efstratiadis, A., and Robertson, E.J. (1990). A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting. Nature 345, 78-80.
12. Dittrich, B., Bulling, K., Korn, B., Rickard, S., Buxton, J., Saitoh, S., Nicholls, R.D., Pouslka, A., Winterpacht, A., Zabel, B., and Horsthemke, B. (1996). Imprint swilching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat. Genet. 14, 163-170.
13. Filson, A., Louvi, A., Efstradiatis, A., and Roberston, E.J. (1993). Rescue of the T-associated maternal effect in mice carrying null mutations in Igf-2 and Igf2r, two reciprocally imprinted genes. Development 778, 731-736.
14. Foltz, D.W. (1981). Genetic evidence for long term monogamy in a small rodent, Peromyscus polionotus. Am. Naturalist 777, 665-675.
15. Haig, D., and Westoby, M. (1989). Parent-specific gene expression and the triploid endosperm. Am. Naturalist 134, 147-155.
16. Hark, A.T., and Tilghman, S.M. (1998). Chromatin conformation of the H19 epigenetic mark. Hum. Mol. Genet. 7, 1979-1985.
17. Hurst, L.D. (1997). Evolutionary theories of genomic imprinting. In Genomic Imprinting, W. Reik and A. Surani, eds. (Oxford: IRL Press), pp. 211-237.
18. Jaenisch, R. (1997). DNA methylation and imprinting: why bother? Trends Genet. 13, 323-329.
19. Jiang, Y.-H., Armstrong, D., Akbrecht, U., Atkins, C.M., Noebels, J.L, Eichele, G., Sweatt, J.D., and Beaudet, A.L. (1998). Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron 21, 799-811.
20. Jinno, Y., Sengoku, K., Nakao, M., Tamate, K., Mitamoto, T., Matsuzaka, T., Sutcliffe, U.S., Anan, T., Takuma, N., Nishiwaki, K., et al. (1996). Mouse/human sequence divergence in a region with a paternal-specific methylation imprint at the human H19 locus. Hum. Mol. Genet. 5, 1155-1161.
21. Jones, B.K., Levorse, J., and Tilghman, S.M. (1998a). Igf2 imprinting does not require its own DMA methylation or H19 RNA. Genes Dev. 12, 2200-2207.
22. Jones, P.L., Veenstra, G.J., Wade, P.A., Vermaak, D., Kass, S.U., Landsberger, N., Strouboulis, J., and Wolffe, A.P. (1998b). Methylated DMA and MeCP2 recruit histone deacetylase to repress transcription. Nat. Genet. 19, 187-191.
23. Kafri, T., Gao, X., and Razin, A. (1993). Mechanistic aspects of genome-wide demethylation in the preimplantation mouse embryo. Proc. Natl. Acad. Sci. USA 90, 10558-10562.
24. Keverne, E.B., Fundele, R., Narasimha, M., Barton, S.C., and Surani, M.A. (1996). Genomic imprinting and the differential roles of parental genomes in brain development. Brain Res. Dev. Brain Res. 92, 91-100.
25. Kono, T., Obata, Y., Yoshimzu, T., Nakahara, T., and Car roll, J. (1996). Epigenetic modifications during oocyte growth correlates with extended parthenogenetic development in the mouse. Nat. Genet. 13, 91-94.
26. La bosky, P.A., Barlow, D.P., and Hogan, B.L (1994). Mouse embryonic germ (EG) cell lines: transmission through the germline and differences in the methylation imprint of insulin-like growth factor 2 receptor (Igf2r) gene compared with embryonic stem (ES) cell lines. Development 720, 3197-3204.
27. Lalande, M. (1996). Parental imprinting and disease. Annu. Rev. Genet. 30, 173-195.
28. Lau, M.M.H., Stewart, C.E.H., Liu, Z., Bhatt, H., Rotwein, P., and Stewart, C.L. (1994). Loss of the imprinted IGF2/cation-independent mannose 6-phosphate receptor results in fetal overgrowth and perinatal lethality. Genes Dev. 8, 2953-2963.
29. Lefebvre, L., Viville, S., Barton, S.C., Ishino, F., Keverne, E.B., and Surani, M.A. (1998). Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene M est. Nat. Genet. 20, 163-169.
30. Leighton, P.A., Ingram, R.S., Eggenschwiler, J., Efstratiadis, A., and Tilghman, S.M. (1995a). Disruption of imprinting caused by deletion of the H19 gene region in mice. Nature 375, 34-39.
31. Leighton, P.A., Saam, J.R., Ingram, R.S., Stewart, C.L., and Tilghman, S.M. (1995b). An enhancer deletion affects both H79 and Igf2 expression. Genes Dev. 9, 2079-2089.
32. Lerchner, W., and Barlow, D.P. (1997). Paternal repression of the imprinted mouse Igf2locus occurs during implantation and is stable in all tissues of the post-implantation mouse embryo. Mech. Dev. 61, 141-149.
33. Li, E., Beard, C., and Jaenisch, R. (1993). The role of DNA methylation in genomic imprinting. Nature 366, 362-365.
34. Lieb, J.D., Albrecht, M.R., Chuang, P.T., and Meyer, B.J. (1998). MIX-1 : an essential component of the C. elegans mitotic machinery executes X chromosome dosage compensation. Cell 92, 265-277.
35. Macleod, D., Charlton, J., Mullins, J., and Bird, A.P. (1994). Sp1 sites in the mouse aprt gene promoter are required to prevent methylation of the CpG island. Genes Dev. 8, 2282-2292.
36. Mann, J.R., Gadi, I., Harbison, M.L, Abbondanzo, S.J., and Stewart, C.L. (1990). Androgenetic mouse embryonic stem cells are pluripotent and cause skeletal defects in chimeras: implications for genetic imprinting. Cell 62, 251-260.
37. McGrath, J., and Solter, D. (1984). Completion of mouse embryogenesis requires both the maternal and paternal genomes. Cell 37, 179-183.
38. Mertineit, C., Yoder, J.A., Taketo, T., Laird, D.W., Trasler, J.M., and Bestor, T.H. (1998). Sex-specific exons control DNA methyltransferase in mammalian germ cells. Development 125, 889-897.
39. Mochizuki, A., Takeda, Y., and Iwasa, Y. (1996). The evolution of genomic imprinting. Genetics 144, 1283-1295.
40. Moore, T., and Haig, D. (1991). Genomic imprinting in mammalian development: a parental tug-of-war. Trends Genet. 7, 45-89.
41. Nan, X., Ng, H.H., Johnson, C.A., Laherty, C.D., Turner, B.M., Eisenman, R.N., and Bird, A. (1998). Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nature 393, 386-389.
42. Neumann, B., Kubicka, P., and Barlow, D.P. (1995). Characteristics of imprinted genes. Nat. Genet. 9, 12-13.
43. Nicholls, R.D., Saitoh, S., and Horsthemke, B. (1998). Imprinting in Prader-Willi and Angelman syndromes. Trends Genet. 14, 194-200.
44. Rougeulle, C., Glatt, H., and Lalande, M. (1997). The Angelman syndrome candidate gene, UBE3A-AP, is imprinted in brain. Nature Genet. 17, 14-15.
45. 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.
46. Rougier, N., Bourc'his, D., Gomes, D.M., Niveleau, A., Plachot, M., Paldi, A., and Viegas-Pequignot, E. (1998). Chromosome methylation patterns during mammalian preimplantation development. Genes Dev. 12, 2108-2113.
47. Sasaki, H., Jones, P.A., Chaillet, U.R., Ferguson-Smith, A.C., Barton, S., Reik, W., and Surani, M.A. (1992). Parental imprinting: potentially active chromatin of the repressed maternal allele of the mouse insulin-like growth factor (Igf2) gene. Genes Dev. 6, 1843-1856.
48. Shemer, R., Birger, Y., Riggs, A.D., and Razin, A. (1997). Structure of the imprinted mouse Snrpn gene and establishment of its parentalspecific methylation pattern. Proc. Natl. Acad. Sci. USA 94, 10267-10272.
49. Skuse, D.H., James, R.S., Bishop, D.V., Coppin, B., Dalton, P., Aamodt-Leeper, G., Bacarese-Hamilton, M., Creswell, C., McGurk, R., and Jacobs, P.A. (1997). Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function. Nature 387, 705-708.
50. Smrzka, O.W., Fae, I., Stoger, R., Kurzbauer, R., Fischer, G.F., Henn, T., Weith, A., and Barlow, O.P. (1995). Conservation of a maternalspecific methylation signal at the human IGF2R locus. Hum. Mol. Genet. 4, 1945-1952.
51. Stoger, R., Kubicka, P., Liu, C.-G., Kafri, T., Razin, A., Cedar, H., and Barlow, D.P. (1993). Maternal-specific methylation of the imprinted mouse Igf2r locus identifies the expressed locus as carrying the imprinting signal. Cell 73, 61-71.
52. Surani, M.A.H., Barton, S.C., and Norris, M.L. (1984). Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis. Nature 308, 548-550.
53. Szabo, P.E., and Mann, J.R. (1995). Biallelic expression of imprinted genes in the mouse germ line: implications for erasure, establishment, and mechanisms of genomic imprinting. Genes Dev. 9, 1857-1868.
54. Tada, M., Tada, T., Lefebvre, L, Barton, S.C., and Surani, M.A. (1997). Embryonic germ cells induce epigenetic reprogramming of somatic nucleus in hybrid cells. EMBO J. 16, 6510-6520.
55. Tada, T., Tada, M., Hilton, K., Barton, S.C., Sado, T., Takagi, N., and Surani, M.A. (1998). Epigenotype switching of unprintable loci in embryonic germ cells. Dev. Genes Evol. 207, 551-561.
56. 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.
57. 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., in press.
58. Tremblay, K.D., Saam, J.R., Ingram, R.S., Tilghman, S.M., and Bartolomei, M.S. (1995). A paternal-specific methylation imprint marks the alleles of the mouse H19 gene. Nat. Genet. 9, 407-413.
59. Vrana, P.B., Guan, X.-J., Ingram, R.S., and Tilghman, S.M. (1998). Genomic imprinting is disrupted in interspecific Peromuscus hybrids. Nat. Genet., in press.
60. Vu, T.H., and Hoffmann, A.R. (1997). Imprinting of Angelman syndrome gene, UBE3A, is restricted to brain. Nat. Genet. 17, 12-13.
61. Walter, J., Allen, N., Kruger, T., Engemann, S., Kelsey, G., Feil, R., Forne, T., and Reik, W. (1996). Genomic imprinting and modifier genes in the mouse. In Epigenetic Mechanisms of Gene Regulation, V.E.A. Russo, R.A. Martienssen, and A.D. Riggs, eds. (Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press), pp. 195-213.
62. Wang, Z.-Q., Fung, M.R., Barlow, D.P., and Wagner, E.F. (1994). Regulation of embryonic growth and lysosomal targeting by the imprinted Igf2/Mpr gene. Nature 372, 464-467.
63. Webber, A., Ingram, R.I., Levorse, J., and Tilghman, S.M. (1998). Location of enhancers is essential for imprinting of H19 and Igf2. Nature 397, 711-715.
64. Weiss, A., Keshet, I., Razin, A., and Cedar, H. (1996). DMA demethyl-ation in vitro: involvement of RNA. Cell 86, 709-718.
65. Wutz, A., Smrzka, O.W., Schweifer, N., Schellander, K., Wagner, E.F., and Barlow, D.P. (1997). Imprinted expression of the Igf2r gene depends on an intronic CpG island. Nature 389, 745-749.
66. Yang, T., Adamson, I.E., Resnick, J.L, Left, 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. Nat. Genet. 79, 25-31.