Imprinting of IGF2 P0 transcript and novel alternatively spliced INS-IGF2 isoforms show differences between mouse and human

Human Molecular Genetics

Volumn 15, Issue 8, 2006, Pages 1259-1269

  Monk, D ^a   Sanches, R ^b   Arnaud, P ^c   Apostolidou, S ^a   Hills, F A ^d   Abu Amero, S ^a   Murrell, A ^e   Friess, H ^f   Reik, W ^b   Stanier, P ^a   Constancia M ^b   Moore, G E ^a  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b BABRAHAM INSTITUTE   (United Kingdom)

^c CNRS   (France)

^d MIDDLESEX UNIVERSITY   (United Kingdom)

^e UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^f UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

SOMATOMEDIN B;

ALLELE; ALTERNATIVE RNA SPLICING; ARTICLE; CONTROLLED STUDY; CORRELATION FUNCTION; DNA METHYLATION; EXON; FETUS; FETUS DEVELOPMENT; GENE CONTROL; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENE LOCUS; GENETIC TRANSCRIPTION; GENOME IMPRINTING; HUMAN; HUMAN TISSUE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PANCREAS; PLACENTA; PRIORITY JOURNAL; PROMOTER REGION; SPECIES DIFFERENCE; TISSUE SPECIFICITY;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CELLS, CULTURED; FEMALE; FETUS; GENE EXPRESSION REGULATION; GENOMIC IMPRINTING; HUMANS; INSULIN-LIKE GROWTH FACTOR II; MICE; MOLECULAR SEQUENCE DATA; PROMOTER REGIONS (GENETICS); PROTEIN ISOFORMS; RNA PRECURSORS; SEQUENCE ALIGNMENT; SPECIES SPECIFICITY;

EID: 33645820241     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddl041     Document Type: Article

References (35)

1. Brannan, C.I. and Bartolomei, M.S. (1999) Mechanisms of genomic imprinting. Curr. Opin. Genet. Dev., 9, 164-170.
2. DeChiara, T.M., Robertson, E.J. and Efstratiades, A. (1991) Parental imprinting of the mouse insulin-like growth factor II gene. Cell, 64, 849-859.
3. 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.
4. Gicquel, C., Rossignol, S., Cabrol, S., Houang, M., Steunou, V., Danton, F., Thibaud, N., Merrer, M.L., Burglen, L., Bertrand, A, M., Netchine, I. and Bouc Y.L., (2005) Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat. Genet., 37, 1003-1007.
5. Ogawa, O., Eccles, M.R., Szeto, J., McNoe, L.A., Yun, K., Maw, M.A., Smith, P.J. and Reeve, A.E. (1993) Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour. Nature, 362, 749-751.
6. Leighton, P.A., Ingram, R.S., Eggenschwiler, J., Efstratiadis, A. and Tilghman, S.M. (1995) Disruption of imprinting caused by deletion of the H19 gene region in mice. Nature, 375, 34-39.
7. Grandjean, V., O'Neill, L., Sado, T., Turner, B. and Ferguson-Smith, A. (2001) Relationship between DNA methylation, histone H4 acetylation and gene expression in the mouse imprinted Igf2-H19 domain. FEBS Lett., 488, 165-169.
8. Murrell, A., Heeson, S. and Reik, W. (2004) Interaction between differentially methylated regions partitions the imprinted genes Igf2 and H19 into parent-specific chromatin loops. Nat. Genet., 36, 889-893.
9. 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 putative imprinting control region upstream of mouse Igf2. Proc. Natl Acad. Sci. USA, 94, 12509-12514.
10. Feil, R., Walter, J., Allen, N.D. and Reik, W. (1994) Developmental control of allelic methylation in the imprinted mouse Igf2 and H19 genes. Development, 120, 2933-2943.
11. Eden, S., Constancia, M., Hashimshony, T., Dean, W., Goldstein, B., Johnson, A.C., Keshet, I., Reik, W. and Cedar, H. (2001) An upstream repressor element plays a role in Igf2 imprinting. EMBO J., 20, 3518-3525.
12. Forne, T., Oswald, J., Dean, W., Saam, J.R., Bailleul, B., Dandolo, L., Tilghman, S.M., Walter, J. and Reik, W. (1997) Loss of the maternal H19 gene induces changes in Igf2 methylation in both cis and trans. Proc. Natl Acad. Sci. USA, 94, 10243-10248.
13. Bell, A.C. and Felsenfeld, G. (2000) Methylation of a CTFT-dependent boundary controls imprinted expression of the Igf2 gene. Nature, 405, 482-485.
14. 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.
15. van Dijk, M.A., van Schaik, F.M., Bootsma, H.J., Holthuizen, P. and Sussenbach, J.S. (1991) Initial characterization of the four promoters of the human insulin-like growth factor II gene. Mol. Cell. Endocrinol., 81, 81-94.
16. Constancia, M., Hemberger, M., Hughes, J., Dean, W., Ferguson-Smith, A., Fundele, R., Stewart, F., Kelsey, G., Fowden, A., Sibley, C. and Reik, W. (2002) Placental-specific IGF-II is a major modulator of placental and fetal growth. Nature, 417, 945-948.
17. Ohlsson, R., Hedborg, F., Holmgren, L., Walsh, C. and Ekstrom, T.J. (1994) Overlapping patterns of IGF2 and H19 expression during human development: Biallelic IGF2 expression correlated with a lack of H19 expression. Development, 120, 361-368.
18. Ekstrom, T.J., Cui, H., Li, X. and Ohlsson, R. (1995) Promoter-specific IGF2 imprinting status and its plasticity during human liver development. Development, 121, 309-316.
19. Fowden, A.L. (2003) The insulin-like growth factors and feto-placental growth. Placenta, 24, 803-812.
20. Sibley, C.P., Caon, P.M., Ferguson-Smith, A.C., Dean, W., Hughes, J., Smith, P., Reik, W., Burton, G.J., Fowden, A.L. and Constancia, M. (2004) Placental-specific insulin-like growth factor 2 (Igf2) regulated the diffusional exchange characterisitics of the mouse placenta. Proc. Natl Acad. Sci. USA, 101, 8204-8208.
21. Wu, H.K., Squire, J.A., Qianli, S. and Weksberg, R. (1997) Promoter-dependent tissue-specific expressive nature of imprinting gene, insulin-like growth factor II in human tissues. Biochem. Biophys. Res. Commun., 233, 221-226.
22. Lewis, M.P., Clements, M., Takeda, S., Kirby, P.L., Seki, H., Lonsdale, L.B., Sullivan, M.H., Elder, M.G. and White, J.O. (1996) Partial characterization of an immortalized human trophoblast cell-line, TCL-1, which possesses a CSF-1 autocrine loop. Placenta, 17, 137-146.
23. Murrell, A., Heeson, S., Bowden, L., Constancia, M., Dean, W., Kelsey, G. and Reik, W. (2001) An intragenic methylated region in the imprinted Igf2 gene augments transcription. EMBO Rep., 2, 1101-1106.
24. Haigh, T., Chen, C., Jones, C.J. and Aplin, J.D. (1999) Studies of mesenchymal cells from 1st trimester human placenta: Expression of cytokeratin outside the trophoblast lineage. Placenta, 20, 615-625.
25. Xiong, Z. and Laird, P.W. (1997) COBRA: A sensitive and quantitative DNA methylation assay. Nucleic Acids Res., 25, 2532-2534.
26. Vu, T.H., Li, T., Nguyen, D., Nguyen, B.T., Yao, X.M., Hu, J.F. and Hoffman, A.R. (2000) Symmetric and asymmetric DNA methylation in the human IGF2-H19 imprinted region. Genomics, 64, 132-143.
27. Sullivan, M.J., Taniguchi, T., Jhee, A., Kerr, N. and Reeve, A.E. (1999) Relaxation of IGF2 imprinting in Wilms' tumours associated with specific changes in IGF2 methylation. Oncogene, 18, 7527-7534.
28. Cui, H., Onyango, P., Brandenburg, S., Wu, Y., Hsieh, C.L. and Feinberg, A.P. (2002) Loss of imprinting in colorectal cancer linked to hypomethylation of H19 and IGF2. Cancer Res., 62, 6442-6446.
29. Cui, H., Cruz-Correa, M., Giardiello, F.M., Hutcheon, D.F., Kafonek, D.R., Brandenburg, S., Wu, Y., He, X., Powe, N.R. and Feinberg, A.P. (2003) Loss of IGF2 imprinting: A potential marker of colorectal cancer risk. Science, 299, 1753-1755.
30. Moore, G.E., Abu-Amero, S.N., Wakeling, E.L., Bell, G., Wilson, A., Stanier, P., Jauniaux, E. and Bennett, S.T. (2001) Evidence that insulin is imprinted in the human yolk sac. Diabetes, 50, 193-203.
31. Pugiese, A., Zeller, M., Fernandez, A., Jr, Zalcberg, L.J., Bartlett, R.J., Ricordi, C., Pietropaolo, M., Eisenbarth, G.S., Bennett, S.T. and Patel, D.D. (1997) The insulin gene is transcribed in the human thymus and transcription levels correlated with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes. Nat. Genet., 15, 293-297.
32. Hills, F.A., Elder, M.G., Chard, T. and Sullivan, M.H. (2004) Regulation of human villous trophoblast by insulin-like growth factors and insulin-like growth factor-binding protein-1. J. Endocrinol., 183, 487-496.
33. Lighten, A.D., Hardy, K., Winston, R.M. and Moore, G.E. (1997) IGF2 is parentally imprinted in human preimplantation embryos. Nat. Genet., 15, 122-123.
34. Joyce, J.A., Lam, W.K., Catchpoole, D.J., Jenks, P., Reik, W., Maher, E.R. and Schofield, P.N. (1997) Imprinting of the IGF2 and H19: Lack of reciprocity in sporadic Beckwith-Wiedemann syndrome. Hum. Mol. Genet., 6, 1543-1548.
35. Arnaud, P., Monk, D., Hitchins, M., Gordon, E., Dean, W., Beechey, C.V., Peters, J., Craigen. W., Preece, M., Stanier, P., Moore, G.E. and Kelsey, G. (2003) Conserved methylation imprint in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark. Hum. Mol. Genet., 12, 1005-1019.