Igf2 imprinting in development and disease

International Journal of Developmental Biology

Volumn 44, Issue 1, 2000, Pages 145-150

  Reik, Wolf ^a   Constancia, Miguel ^a   Dean, Wendy ^a   Davies, Karen ^a   Bowden, Lucy ^a   Murrell, Adele ^a   Feil, Robert ^a   Walter, Joern ^b   Kelsey, Gavin ^a  

^a BABRAHAM INSTITUTE   (United Kingdom)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

DNA methylation; Fetal growth; Genetic disease; Imprinting; Mouse development

Indexed keywords

ARTICLE; DEVELOPMENT; DEVELOPMENTAL GENETICS; FETUS GROWTH; GENE CLUSTER; GENE CONTROL; GENE EXPRESSION; GENOME IMPRINTING; GROWTH DISORDER; MALIGNANT NEOPLASTIC DISEASE; NONHUMAN; PRIORITY JOURNAL;

ANIMALS; GENOMIC IMPRINTING; INSULIN-LIKE GROWTH FACTOR II; MICE; NEOPLASMS;

EID: 0034057913     PISSN: 02146282     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (58)

1. AINSCOUGH, J.F., KOIDE, T., TADA, M., BARTON, S. and SURANI, M.A. (1997). Imprinting of Igf2 and H19 from a 130 kb YAC transgene. Development 124: 3621-3632.
2. BATES, P., FISHER, R., WARD, A., RICHARDSON, L., HILL, D.J. and GRAHAM, C.F. (1995). Mammary cancer in transgenic mice expressing insulin-like growth factor II (IGF-II). Br. J. Cancer 72: 1189-1193.
3. BESTOR, T.H. and TYCKO, B. (1996). Creation of genomic methylation patterns. Nature Genet. 12: 363-367.
4. BRANNAN, C.I. and BARTOLOMEI, M.S. (1999). Mechanisms of genomic imprinting. Curr. Opin. Genet. Dev. 31: 493-525.
5. BROWN, K.W., VILLAR, A.J., BICKMORE, W., CLAYTON-SMITH, J., CATCHPOOLE, D., MAHER, E.R. and REIK, W. (1996). Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway. Hum. Mol. Genet. 5: 2027-2032.
6. CASPARY, T., CLEARY, M.A., BAKER, C.C., GUAN, X.J. and TILGHMAN, S.M. (1998). Multiple mechanisms regulate imprinting of the mouse distal chromosome 7 gene cluster. Mol. Cell. Biol. 18: 3466-3474.
7. CHRISTOFORI, G., NAIK, P. and HANAHAN, D. (1994). A second signal supplied by insulin-like growth factor II in oncogene-induced tumorigenesis. Nature 369: 414-418.
8. CONSTANCIA, M., PICKARD, B., KELSEY, G. and REIK, W. (1998). Imprinting mechanisms. Genome Res. 8: 881-900.
9. De CHIARA, 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.
10. De CHIARA, T.M., ROBERTSON, E.J. and EFSTRATIADIS, A. (1991). Parental imprinting of the mouse insulin-like growth factor II gene. Cell 64: 849-859.
11. 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.
12. EFSTRATIADIS, A. (1998). Genetics of mouse growth. Int. J. Dev. Biol. 42: 955-976.
13. EGGENSCHWILER, J., LUDWIG, T., FISHER, P., LEIGHTON, P.A., TILGHMAN, S.M. and EFSTRATIADIS, A. (1997). Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes. Genes. Dev. 11: 3128-3142.
14. FEIL, R., HANDEL, M.A., ALLEN, N.D. and REIK, W. (1995). Chromatin structure and imprinting: developmental control of DNase-1 sensitivity in the mouse insulin-like growth factor 2 gene. Dev. Genet. 17: 240-252.
15. 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.
16. FEINBERG, A.P. (1999). Imprinting of a genomic domain of 11p15 and loss of imprinting in cancer: an introduction. Cancer Res. 59: 1743-1746.
17. FORNÉ, T., OSWALD, J., DEAN, W., SAAM, J.R., BAILLEUL, E., 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.
18. GARDNER, R.L., SQUIRE, S., ZAINA, S., HILLS, S. and GRAHAM, C.F. (1999). Insulin-like growth factor-2 regulation of conceptus composition: effects of the trophectoderm and inner cell mass genotypes in the mouse. Biol. Reprod. 60: 190-195.
19. HARK, A.T. and TILGHMAN, S.M. (1998). Chromatin conformation of the H19 epigenetic mark. Hum. Mol. Genet. 7: 1979-1985.
20. Kip2 is mutated in Beckwith-Wiedemann syndrome. Nature Genet. 14: 171-173.
21. JOYCE, J.A., LAM, W.K., CATCHPOOOLE, D.J., JENKS, P., REIK, W., MAHER, E.R. and SCHOFIELD, P.N. (1997). Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-Wiedemann syndrome. Hum. Mol. Genet 6: 1543-1548.
22. KHOSLA, S., AITCHISON, A., GREGORY, R., ALLEN, N.D. and FEIL, R. (1999). Parental allele-specific chromatin configuration in a boundary imprinting-control element upstream of the mouse H19 gene. Mol. Cell Biol. 19: 25556-2566.
23. KITSBERG, D., SELIG, S., BRANDEIS, M., SIMON, I., KESHET, I., DRISCOLL, D.J., NICHOLLS, R.D. and CEDAR, H. (1993). Allele-specific replication timing of imprinted gene regions. Nature 364: 459-463.
24. LAM, W.W., HATADA, I., OHISHI, S., MUKAI, T., JOYCE, J.A., COLE, T.R., DONNAI, D., REIK, W., SCHOFIELD, P.N. and MAHER, E.R. (1999). Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemman syndrome (BWS) provides a novel genotype-phenotype correlation. J. Med. Genet. 36: 518-523.
25. LEE, J.E., PINTAR, J. and EFSTRATIADIS, A. (1990). Pattern of the insulin-like growth factor II gene expression during early mouse embryogenesis. Development 110: 151-159.
26. LEE, M.P., DeBAUN, M.R., MITSUYA, K., GALONEK, H.L., BRANDENBURG, S., OSHIMURA, M. and FEINBERG, A.P. (1999). Loss of imprinting of a paternally expressed transcript, with antisense orientation to KvLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting. Proc. Natl. Acad. Sci. USA 96: 5203-5208.
27. Kip2 mutation in Beckwith-Wiedemann syndrome. Am. J. Hum. Genet. 61: 304-309.
28. LEE, M.P., HU, R.J., JOHNSON, L.A. and FEINBERG, A.P. (1997b). Human KvLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements. Nature Genet. 15 181-185.
29. LEIGHTON, P.A., INGRAM, R.S., EGGENSCHWILDER, J., EFSTHATIADIS, A. and TILGHMAN, S.M. (1995a). Disruption of imprinting causes by deletion of the H19 gene region in mice. Nature 375: 34-39.
30. LEIGHTON, P.A., SAAM, J.R., INGRAM, R.S., STEWART, C.L. and TILGHMAN, S.M. (1995b). An enhancer deletion affects both H19 and Igf2 expression. Genes Dev. 9: 2079-2089.
31. LYKO, F., BRENTON, J.D., SURANI, M.A. and PARO, R. (1997). An imprinting element from the mouse H19 locus functions as a silencer in Drosophila. Nature Genet. 76 171-173.
32. MANNENS, M., ALDERS, M., REDEKER, B., BLIEK, J., STEENMAN, M., WIESMEYER, C., de MEULEMEESTER, M., RYAN, A., KALIKIN, L., VOUTE, T., D KRAKER, J., HOOVERS, J., SLATER, R., FEINBERG, A., LITTLE, P. and WESTERVELD, A. (1996). Positional cloning ot genes involved in the Beckwith-Wiedemann syndrome, hemihypertrophy and associated childhood tumors. Med. Pediatr. Oncol. 27: 490-494.
33. MIYOSHI, N., KUROIWA, Y., KOHDA, T., SHITARA, H., YONEKAWA, H., KAWABE, T., HASEGAWA, H., BARTON, S.C., SURANI, M.A., KANEKO-ISHINO, T. and ISHINO, F. (1998). Identification of the Meg1/Grb10 imprinted gene on mouse proximal chromosome 11, a candidate for the Silver-Russell syndrome gene. Proc. Natl. Acad. Sci. USA 95: 1102-1107.
34. 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 a putative imprinting control region upstream of mouse Igf2. Proc. Natl. Acad. Sci. USA 94: 12509-12514.
35. MORISON, I.M. and REEVE, A.E. (1998). Insulin-like growth factor 2 and overgrowth: molecular biology and clinical implications. Mol. Med. Today 4: 110-115.
36. MOULTON, T., CRENSHAW, T., HAO, Y., MOOSIKASUWAN, J., LIN, N., DEMBITZER, F., HENSLE, T., WEISS, L., McMORROW, L., LOEW, T., KRAUS, W., GERALD, W. and TYCKO, B. (1994). Epigenetic lesions at the H19 locus in Wilms' tumour patients. Nature Genet. 7: 440-447.
37. NIELSEN, J., CHRISTIANSEN, J., LYKKE-ANDERSEN, J., JOHNSEN, A.H., WEWER, U.M. and NIELSEN, F.C. (1999). A family of insulin-like growth factor II mRNA-binding proteins represses translation in late development. Mol. Cell Biol. 19: 1262-1270.
38. Kip2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms' tumors. Am. J. Hum. Genet. 67: 295-303.
39. OKAMOTOMO, K., MORISON, I.M., TANIGUCHI, T. and REEVE, A.E. (1997). Epigenetic changes at the insulin-like growth factor II/H19 locus in developing kidney is an early event in Wilms' tumorigenesis. Proc. Natl. Acad. Sci USA 94: 5367-5371.
40. OLEK, A. and WALTER, J. (1997). The preimplantation ontogeny of the H19 methylation imprinting. Nature Genet. 17 275-276.
41. PAULSEN, M., DAVIES, K.R., BOWDEN, L.M., VILLAR, A.J., FRANCK, O., FUERMANN, M., DEAN, W.L., MOORE, T.F., RODRIGUES, N., DAVIES, K.E., HU, R.J., FEINBERG, A.P., MAHER, E.R., REIK, W. and WALTER, J. (1998). Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15.5. Hum. Mol. Genet. 7: 1149-1159.
42. REIK, W. and MAHER, E.R. (1997). Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome. Trends Genet. 13: 330-334.
43. REIK, W. and WALTER, J. (1998). Imprinting mechanisms in mammals. Curr. Opin. Genet. Dev. 8: 154-164.
44. REIK, W., BROWN, K.W., SCHNEID, H., Le BOUC, Y., BICKMORE, W. and MAHER, E.R. (1995). Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain. Hum. Mol. Genet. 4: 2379-2385.
45. SASAKI, H., JONES, P.A., CHAILLET, J.R., FERGUSON-SMITH, A.C., BARTON, S.C., 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.
46. SHEMER, R., BIRGER, Y., DEAN, W.L., REIK, W., RIGGS, D A.D. and RAZIN, A. (1996). Dynamic methylation adjustment and counting as part of imprinting mechanisms. Proc. Natl. Acad. Sci. USA 93: 6371-7376.
47. SMILINICH, N.J., DAY, C.D., FITZPATRICK, G.V., CALDWELL, G.M., LOSSIE, A.C., COOPER, P.R., SMALLWOOD, A.C., JOYCE, J.A., SCHOFIELD, P.N., REIK, W., NICHOLLS, R.D., DRISCOLL, D.J., MAHER, E.R., SHOWS, S.B. and HIGGINS, M.J. (1999). A maternally methylated CpG-island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome. Proc. Natl. Acad. Sci. USA 96: 8064-8069.
48. STEENMAN, M.J., RAINIER, S., DOBRY, C.J., GRUNDY, P., HORON, I.L. and FEINBERG, A.P. (1994). Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumour. Nature Genet. 7: 433-439.
49. SUN, F.L., DEAN, W.L., KELSEY, G., ALLEN, N.D. and REIK, W. (1997). Transactivation of Igf2 in a mouse model of Beckwith-Wiedemann syndrome. Nature 389: 809-815.
50. SURANI, M.A. (1998). Imprinting and the initiation of gene silencing in the germ line. Cell 93: 309-312.
51. SZABO, P.E., PFEIFER, G.P. and MANN, J.R. (1998). Characterization of novel parent-specific epigenetic modifications upstream of the imprinted mouse H19 gene. Mol. Cell. Biol. 18: 6767-6776.
52. 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.
53. TILGHMAN, S.M. (1999). The sins of the fathers and mothers: genomic imprinting in mammalian development. Cell 96: 185-193.
54. TREMBLAY, K.D., DURAN, K.L. and BARTOLOMEI, M.S. (1997). A 2-kilobase-pair region of the imprinted mouse H19 gene exhibits exclusive paternal methylation throughout development. Mol. Cell. Biol. 17: 4322-4329.
55. WARD, A. (1997). Beckwith-Wiedemann syndrome and Wilms' tumour. Mol. Hum. Reprod. 3: 157-168.
56. WEBBER, A.L., INGRAM, R.S., LEVORSE, J.M. and TILGHMAN, S.M. (1998). Location of enhancers is essential for the imprinting of H19 and Igf2 genes. Nature 397: 711-715.
57. 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. Nature Genet. 5: 143-150.
58. 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.