63
Views
109
CrossRef citations to date
0
Altmetric
Gene Expression

Mutation of a Single CTCF Target Site within the H19 Imprinting Control Region Leads to Loss of Igf2 Imprinting and Complex Patterns of De Novo Methylation upon Maternal Inheritance

, , , , , , , & show all
Pages 3497-3504 | Received 04 Sep 2003, Accepted 14 Jan 2004, Published online: 27 Mar 2023

REFERENCES

  • Bartolomei, M. S., and Tilghman S. M.. 1997. Genomic imprinting in mammals. Annu. Rev. Genet. 31:493–525.
  • Bell, A., West A., and Felsenfeld G.. 1999. The protein CTCF is required for the enhancer blocking activity of vertebrate insulators. Cell 98:387–396.
  • Bell, A. C., and Felsenfeld G.. 2000. Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene. Nature 405:482–485.
  • Chernukhin, I., Shamsuddin S., Robinson A., Carne A., Paul A., El-Kady A., Lobanenkov V., and Klenova E.. 2000. Physical and functional interaction between two pluripotent proteins, the Y-box DNA/RNA-binding factor, YB-1, and the multivalent zinc finger factor, CTCF. J. Biol. Chem. 275:29915–29921.
  • Davis, T., Yang G., McCarrey J., and Bartolomei M.. 2000. The H19 methylation imprint is erased and re-established differentially on the parental alleles during male germ cell development. Hum. Mol. Genet. 9:2885–2894.
  • Dean, W., Bowden L., Aitchison A., Klose J., Meneses 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.
  • Drewell, R., Brenton J., Ainscough J., Barton S., Hilton K., Arney K., Dandolo L., and Surani M.. 2000. Deletion of a silencer element disrupts H19 imprinting independently of a DNA methylation epigenetic switch. Development 127:3419–3428.
  • Filippova, G., Fagerlie S., Klenova E., Myers C., Dehner Y., Goodwin G., Neiman P., Collins S., and Lobanenkov V.. 1996. An exceptionally conserved transcriptional repressor, CTCF, employs different combinations of zinc fingers to bind diverged promoter sequences of avian and mammalian c-myc oncogenes. Mol. Cell. Biol. 16:2802–2813.
  • Hark, A. T., Schoenherr C. J., Katz D. J., Ingram R. S., Levorse J. M., and Tilghman S. M.. 2000. CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus. Nature 405:486–489.
  • Holmgren, C., Kanduri K., Dell G., Ward A., Mukhopadhyay R., Kanduri M., Lobanenkov V., and Ohlsson R.. 2001. CpG methylation regulates the Igf2/H19 insulator. Curr. Biol. 11:1128–1130.
  • Horsthemke, B., Surani M. A., James T. C., and Ohlsson R.. 1999. The mechanisms of genomic imprinting, p. 91–118. In Ohlsson R. (ed.), Genomic imprinting: an interdisciplinary approach, vol. 25. Springer-Verlag, Berlin, Germany.
  • Kanduri, C., Holmgren C., Franklin G., Pilartz M., Ullerås E., Kanduri M., Liu L., Ginjala V., Ulleras E., Mattsson R., and Ohlsson R.. 2000. The 5′-flank of the murine H19 gene in an unusual chromatin conformation unidirectionally blocks enhancer-promoter communication. Curr. Biol. 10:449–457.
  • Kanduri, C., Pant V., Loukinov D., Pugacheva E., Qi C.-F., Wolffe A., Ohlsson R., and Lobanenkov V. V.. 2000. Functional interaction of CTCF with the insulator upstream of the H19 gene is parent of origin-specific and methylation-sensitive. Curr. Biol. 10:853–856.
  • Kanduri, M., Kanduri C., Mariano P., Vostrov A., Quitsche W., Lobanenkov V., and Ohlsson R.. 2002. Multiple nucleosome positioning sites regulate the CTCF-mediated insulator function of the H19 imprinting control region. Mol. Cell. Biol. 22:3339–3344.
  • Klenova, E., Chernukhin I., El-Kady A., Lee R., Pugacheva E., Loukinov D., Goodwin G., Delgado D., Filippova G., Leon J., Morse H. R., Neiman P., and Lobanenkov V.. 2001. Functional phosphorylation sites in the C-terminal region of the multivalent multifunctional transcriptional factor CTCF. Mol. Cell. Biol. 21:2221–2234.
  • Klenova, E. M., Nicolas R. H., Carne A. F., Lee R. E., Lobanenkov V. V., and Goodwin G. H.. 1997. Molecular weight abnormalities of the CTCF transcription factor: CTCF migrates aberrantly in SDS-PAGE and the size of the expressed protein is affected by the UTRs and sequences within the coding region of the CTCF gene. Nucleic Acids Res. 25:466–474.
  • Lewandoski, M., and Martin G.. 1997. Cre-mediated chromosome loss in mice. Nat. Genet. 17:223–225.
  • Lobanenkov, V., Nicolas R., Adler V., Paterson H., Klenova E., Polotskaja A., and Goodwin G.. 1990. A novel sequence-specific DNA binding protein, which interacts with three regularly spaced direct repeats of the CCCTC-motif in the 5′-flanking sequence of the chicken c-myc gene. Oncogene 5:1743–1753.
  • 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.
  • Olek, A., Oswald J., and Walter J.. 1996. A modified and improved method for bisulphite based cytosine methylation analysis. Nucleic Acids Res. 24:5064–5066.
  • Palstra, R. J., Tolhuis B., Splinter E., Nijmeijer R., Grosveld F., and de Laat W.. 2003. The beta-globin nuclear compartment in development and erythroid differentiation. Nat. Genet. 35:190–194.
  • Pant, V., Mariano P., Kanduri C., Mattsson A., Lobanenkov V., Heuchel R., and Ohlsson R.. 2003. The nucleotides responsible for the direct physical contact between the chromatin insulator protein CTCF and the H19 imprinting control region manifest parent of origin-specific long-distance insulation and methylation-free domains. Genes Dev. 17:586–590.
  • Reed, M. R., Huang C. F., Riggs A. D., and Mann J. R.. 2001. A complex duplication created by gene targeting at the imprinted H19 locus results in two classes of methylation and correlated Igf2 expression phenotypes. Genomics 74:186–196.
  • Schoenherr, C., Levorse J., and Tilghman S.. 2003. CTCF maintains differential methylation at the Igf2/H19 locus. Nat. Genet. 33:66–69.
  • Srivastava, M., Hsieh S., Grinberg A., Williams-Simons L., Huang S. P., and Pfeifer K.. 2000. H19 and Igf2 monoallelic expression is regulated in two distinct ways by a shared cis acting regulatory region upstream of H19. Genes Dev. 14:1186–1195.
  • Thorvaldsen, 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.
  • Tremblay, K., Duran K., and Bartolomei M.. 1997. A 5′ 2-kilobase-pair region of the imprinted mouse H19 gene exhibits exclusive paternal methylation throughout development. Mol. Cell. Biol. 17:4322–4329.
  • 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.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.