Domain-specific response of imprinted genes to reduced DNMT1

Molecular and Cellular Biology

Volumn 30, Issue 16, 2010, Pages 3916-3928

  Weaver, Jamie R ^a   Sarkisian, Garnik ^a   Krapp, Christopher ^a   Mager, Jesse ^a,b   Mann, Mellissa R W ^a,c   Bartolomei, Marisa S ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF MASSACHUSETTS   (United States)

^c UNIVERSITY OF WESTERN ONTARIO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

DNA METHYLTRANSFERASE 1;

ANIMAL TISSUE; ARTICLE; ASCL2 GENE; CDKNC1 GENE; CONTROLLED STUDY; DNA METHYLATION; DNMT1 GENE; EMBRYO; GENE; GENE EXPRESSION REGULATION; GENE MUTATION; GENOME IMPRINTING; IGF2 GENE; KCNQ1 GENE; LOSS OF FUNCTION MUTATION; MALE; MOUSE; NONHUMAN; PEG3 GENE; PLACENTA; PRIORITY JOURNAL;

ALLELES; ANIMALS; BASE SEQUENCE; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; CROSSES, GENETIC; DNA (CYTOSINE-5-)-METHYLTRANSFERASE; DNA METHYLATION; DNA PRIMERS; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENOMIC IMPRINTING; INSULIN-LIKE GROWTH FACTOR II; KCNQ1 POTASSIUM CHANNEL; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MALE; MICE; MICE, INBRED C57BL; MICE, MUTANT STRAINS; MULTIGENE FAMILY; MUTANT PROTEINS; PLACENTA; PREGNANCY; PROTEIN STRUCTURE, TERTIARY;

EID: 77955605223     PISSN: 02707306     EISSN: 10985549     Source Type: Journal    
DOI: 10.1128/MCB.01278-09     Document Type: Article

References (52)

1. Barlow, D. P., and M. Bartolomei. 2007. Genomic imprinting in mammals, p. 357-375. In C. D. Allis, T. Jenuwein, D. Reinberg, and M. Caparros (ed.), Epigenetics. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
2. Beard, C., E. Li, and R. Jaenisch. 1995. Loss of methylation activates Xist in somatic but not embryonic cells. Genes Dev. 9:2325-2334.
3. Bhogal, B., A. Arnaudo, A. Dymkowski, A. Best, and T. L. Davis. 2004. Methylation at mouse Cdkn1c is acquired during postimplantation development and functions to maintain imprinted expression. Genomics 84:961-970. (Pubitemid 39469121)
4. Bourc'his, D., and T. H. Bestor. 2004. Meiotic catastrophe and retrotransposon reactivation in male germ cells lacking Dnmt3L. Nature 431:96-99.
5. Bourc'his, D., G. L. Xu, C. S. Lin, B. Bollman, and T. H. Bestor. 2001. Dnmt3L and the establishment of maternal genomic imprints. Science 294:2536-2539.
6. Caspary, T., M. A. Cleary, C. C. Baker, X.-J. Guan, and S. M. Tilghman. 1998. Multiple mechanisms regulate imprinting of the mouse distal chromosome 7 gene cluster. Mol. Cell. Biol. 18:3466-3474.
7. Cirio, M. C., J. Martel, M. Mann, M. Toppings, M. Bartolomei, J. Trasler, and J. R. Chaillet. 2008. DNA methyltransferase 1o functions during preimplantation development to preclude a profound level of epigenetic variation. Dev. Biol. 324:139-150.
8. Croteau, S., C. Polychronakos, and A. K. Naumova. 2001. Imprinting defects in mouse embryos: stochastic errors or polymorphic phenotype? Genesis 31:11-16.
9. Delaval, K., J. Govin, F. Cerqueira, S. Rousseaux, S. Khochbin, and R. Feil. 2007. Differential histone modifications mark mouse imprinting control regions during spermatogenesis. EMBO J. 26:720-729. (Pubitemid 46253832)
10. Edwards, C. A., and A. C. Ferguson-Smith. 2007. Mechanisms regulating imprinted genes in clusters. Curr. Opin. Cell Biol. 19:281-289.
11. Fan, T., J. P. Hagan, S. V. Kozlov, C. L. Stewart, and K. Muegge. 2005. Lsh controls silencing of the imprinted Cdkn1c gene. Development 132:635-644. (Pubitemid 40352824)
12. Fellinger, K., U. Rothbauer, M. Felle, G. Langst, and H. Leonhardt. 2009. Dimerization of DNA methyltransferase 1 is mediated by its regulatory domain. J. Cell. Biochem. 106:521-528.
13. Fitzpatrick, G. V., P. D. Soloway, and M. J. Higgins. 2002. Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1. Nat. Genet. 32:426-431.
14. Gould, T. D., and K. Pfeifer. 1998. Imprinting of mouse Kvlqt1 is developmentally regulated. Hum. Mol. Genet. 7:483-487.
15. Green, K., A. Lewis, C. Dawson, W. Dean, B. Reinhart, J. R. Chaillet, and W. Reik. 2007. A developmental window of opportunity for imprinted gene silencing mediated by DNA methylation and the Kcnq1ot1 noncoding RNA. Mamm. Genome 18:32-42. (Pubitemid 46207174)
16. Guillemot, F., T. Caspary, S. M. Tilghman, N. G. Copeland, D. J. Gilbery, N. A. Jenkins, D. J. Anderson, A. L. Joyner, J. Rossant, and A. Nagy. 1995. Genomic imprinting of Mash-2, a mouse gene required for trophoblast development. Nat. Genet. 9:235-241.
17. Hata, K., M. Okano, H. Lei, and E. Li. 2002. Dnmt3L cooperates with the Dnmt3 family of de novo DNA methyltransferases to establish maternal imprints in mice. Development 129:1983-1993.
18. Hershko, A., A. Razin, and R. Shemer. 1999. Imprinted methylation and its effect on expression of the mouse Zfp127 gene. Gene 234:323-327. (Pubitemid 29296905)
19. Hirasawa, R., H. Chiba, M. Kaneda, S. Tajima, E. Li, R. Jaenisch, and H. Sasaki. 2008. Maternal and zygotic Dnmt1 are necessary and sufficient for the maintenance of DNA methylation imprints during preimplantation development. Genes Dev. 22:1607-1616. (Pubitemid 351846841)
20. Howell, C. Y., T. H. Bestor, F. Ding, K. E. Latham, C. Mertineit, J. M. Trasler, and J. R. Chaillet. 2001. Genomic imprinting disrupted by a maternal effect mutation in the Dnmt1 gene. Cell 104:829-838.
21. Jiang, S., M. A. Hemann, M. P. Lee, and A. P. Feinberg. 1998. Strain-dependent developmental relaxation of imprinting of an endogenous mouse gene, Kvlqt1. Genomics 53:395-399. (Pubitemid 28527645)
22. Kaneda, M., M. Okano, K. Hata, T. Sado, N. Tsujimoto, E. Li, and H. Sasaki. 2004. Essential role for de novo DNA methyltransferase Dnmt3a in paternal and maternal imprinting. Nature 429:900-903. (Pubitemid 38843304)
23. Kurihara, Y., Y. Kawamura, Y. Uchijima, T. Amamo, H. Kobayashi, T. Asano, and H. Kurihara. 2008. Maintenance of genomic methylation patterns during preimplantation development requires the somatic form of DNA methyltransferase 1. Dev. Biol. 313:335-346.
24. Lei, H., S. P. Oh, M. Okano, R. Juttermann, K. A. Goss, R. Jaenisch, and E. Li. 1996. De novo DNA cytosine methyltransferase activities in mouse embryonic stem cells. Development 122:3195-3205.
25. Leighton, P. A., R. S. Ingram, J. Eggenschwiler, A. Efstratiadis, and S. M. Tilghman. 1995. Disruption of imprinting caused by deletion of the H19 gene region in mice. Nature 375:34-39.
26. Leonhardt, H., A. W. Page, H. U. Weier, and T. H. Bestor. 1992. A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei. Cell 71:865-873.
27. Lewis, A., K. Mitsuya, D. Umlauf, P. Smith, W. Dean, J. Walter, M. Higgins, R. Feil, and W. Reik. 2004. Imprinting on distal chromosome 7 in the placenta involves repressive histone methylation independent of DNA methylation. Nat. Genet. 36:1291-1295.
28. Li, E., C. Beard, and R. Jaenisch. 1993. Role for DNA methylation in genomic imprinting. Nature 366:362-365. (Pubitemid 23349366)
29. Li, E., T. H. Bestor, and R. Jaenisch. 1992. Targeted mutation of the DNA methyltransferase gene results in embryonic lethality. Cell 69:915-926.
30. Lin, S. P., N. Youngson, S. Takada, H. Seitz, W. Reik, M. Paulsen, J. Cavaille, and A. C. Ferguson-Smith. 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.
31. Mager, J., N. D. Montgomery, F. P. de Villena, and T. Magnuson. 2003. Genome imprinting regulated by the mouse Polycomb group protein Eed. Nat. Genet. 33:502-507.
32. Mancini-DiNardo, D., S. J. Steele, R. S. Ingram, and S. M. Tilghman. 2003. A differentially methylated region within the gene Kcnq1 functions as an imprinted promoter and silencer. Hum. Mol. Genet. 12:283-294.
33. Mann, M. R., S. S. Lee, A. S. Doherty, R. I. Verona, L. D. Nolen, R. M. Schultz, and M. S. Bartolomei. 2004. Selective loss of imprinting in the placenta following preimplantation development in culture. Development 131:3727-3735.
34. Mann, M. R. W., Y. G. Chung, L. D. Nolen, R. I. Verona, K. E. Latham, and M. S. Bartolomei. 2003. Disruption of imprinted gene methylation and expression in cloned preimplantation stage mouse embryos. Biol. Reprod. 69:902-914.
35. Myant, K., and I. Stancheva. 2008. LSH cooperates with DNA methyltransferases to repress transcription. Mol. Cell. Biol. 28:215-226.
36. Panning, B., and R. Jaenisch. 1996. DNA hypomethylation can activate Xist expression and silence X-linked genes. Genes Dev. 10:1991-2002. (Pubitemid 26346108)
37. Percec, I., R. M. Plenge, J. H. Nadeau, M. S. Bartolomei, and H. F. Willard. 2002. Autosomal dominant mutations affecting X inactivation choice in the mouse. Science 296:1136-1139. (Pubitemid 34517134)
38. Rivera, R. M., P. Stein, J. R. Weaver, J. Mager, R. M. Schultz, and M. S. Bartolomei. 2008. Manipulations of mouse embryos prior to implantation result in aberrant expression of imprinted genes on day 9.5 of development. Hum. Mol. Genet. 17:1-14.
39. Shemer, R., Y. Birger, A. D. Riggs, and A. Razin. 1997. Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern. Proc. Natl. Acad. Sci. U. S. A. 94:10267-10272.
40. Tanaka, M., M. Puchyr, M. Gertsenstein, K. Harpal, R. Jaenisch, J. Rossant, and A. Nagy. 1999. Parental origin-specific expression of Mash2 is established at the time of implantation with its imprinting mechanism highly resistant to genome-wide demethylation. Mech. Dev. 87:129-142.
41. Thorvaldsen, J. L., K. L. Duran, and M. S. Bartolomei. 1998. Deletion of the H19 differentially methylated domain results in loss of imprinted expression of H19 and Igf2. Genes Dev. 12:3693-3702.
42. Thorvaldsen, J. L., A. M. Fedoriw, S. Nguyen, and M. S. Bartolomei. 2006. Developmental profile of H19 differentially methylated domain (DMD) deletion alleles reveals multiple roles of the DMD in regulating allelic expression and DNA methylation at the imprinted H19/Igf2 locus. Mol. Cell. Biol. 26:1245-1258.
43. Umlauf, D., Y. Goto, R. Cao, F. Cerqueira, A. Wagschal, Y. Zhang, and R. Feil. 2004. Imprinting along the Kcnq1 domain on mouse chromosome 7 involves repressive histone methylation and recruitment of Polycomb group complexes. Nat. Genet. 36:1296-1300.
44. Verona, R. I., M. R. Mann, and M. S. Bartolomei. 2003. Genomic imprinting: intricacies of epigenetic regulation in clusters. Annu. Rev. Cell Dev. Biol. 19:237-259.
45. Verona, R. I., J. L. Thorvaldsen, K. J. Reese, and M. S. Bartolomei. 2008. The transcriptional status but not the imprinting control region determines allele-specific histone modifications at the imprinted H19 locus. Mol. Cell. Biol. 28:71-82.
46. Wagschal, A., H. G. Sutherland, K. Woodfine, A. Henckel, K. Chebli, R. Schulz, R. J. Oakey, W. A. Bickmore, and R. Feil. 2008. G9a histone methyltransferase contributes to imprinting in the mouse placenta. Mol. Cell. Biol. 28:1104-1113.
47. Webster, K. E., M. K. O'Bryan, S. Fletcher, P. E. Crewther, U. Aapola, J. Craig, D. K. Harrison, H. Aung, N. Phutikanit, R. Lyle, S. J. Meachem, S. E. Antonarakis, D. M. de Kretser, M. P. Hedger, P. Peterson, B. J. Carroll, and H. S. Scott. 2005. Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis. Proc. Natl. Acad. Sci. U. S. A. 102:4068-4073.
48. Williamson, C. M., M. D. Turner, S. T. Ball, W. T. Nottingham, P. Glenister, M. Fray, Z. Tymowska-Lalanne, A. Plagge, N. Powles-Glover, G. Kelsey, M. Maconochie, and J. Peters. 2006. Identification of an imprinting control region affecting the expression of all transcripts in the Gnas cluster. Nat. Genet. 38:350-355.
49. Wutz, A., O. W. Smrzka, N. Schweifer, K. Schellander, E. F. Wagner, and D. P. Barlow. 1997. Imprinted expression of the Igf2r gene depends on an intronic CpG island. Nature 389:745-749.
50. Xin, Z., M. Tachibana, M. Guggiari, E. Heard, Y. Shinkai, and J. Wagstaff. 2003. Role of histone methyltransferase G9a in CpG methylation of the Prader-Willi syndrome imprinting center. J. Biol. Chem. 278:14996-15000.
51. Yang, T., T. E. Adamson, J. L. Resnick, S. Leff, R. Wevrick, U. Francke, N. A. Jenkins, N. G. Copeland, and C. I. Brannan. 1998. A mouse model for Prader-Willi syndrome imprinting-centre mutations. Nat. Genet. 19:25-31.
52. Zhu, H., T. M. Geiman, S. Xi, Q. Jiang, A. Schmidtmann, T. Chen, E. Li, and K. Muegge. 2006. Lsh is involved in de novo methylation of DNA. EMBO J. 25:335-345.