Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway

Human Molecular Genetics

Volumn 5, Issue 12, 1996, Pages 2027-2032

  Brown, Keith W ^a   Villar, Angela J ^b   Bickmore, Wendy ^c   Clayton Smith, Jill ^d   Catchpoole, Daniel ^e   Maher, Eamonn R ^e   Reik, Wolf ^b  

^a SCHOOL OF MEDICAL SCIENCES   (United Kingdom)

^b BABRAHAM INSTITUTE   (United Kingdom)

^c UNIVERSITY OF EDINBURGH   (United Kingdom)

^d ST MARY S HOSPITAL   (United Kingdom)

^e UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

SOMATOMEDIN B;

ALLELE; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CHROMOSOME 11P; DNA METHYLATION; FEMALE; GENE DELETION; GENE MUTATION; GENE REPRESSION; HUMAN; HUMAN CELL; MALE; PATHOGENESIS; PRIORITY JOURNAL;

EID: 0029806141     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.12.2027     Document Type: Article

References (43)

1. Neumann, B. and Barlow, D.P. (1996) Curr. Opin. Genet. Dev., 6, 159-163.
2. John, R.M. and Surani, M.A. (1996) Curr. Opin. Cell Biol., 8, 348-353.
3. Nicholls, R.D. (1994) Am. J. Hum. Genet., 54, 733-740.
4. Bartolomei, M.S., Weber, A., Brunkow, M.A. and Tilghman, S.M. (1993) Genes Dev., 7, 1663-1673.
5. Sutcliffe, J.S., Nakao, M., Christian, S., Örstavik, K.H., Tommerup, N., Ledbetter, D.H. and Beaudet, A.L. (1994) Nature Genet., 8, 52-58.
6. Buiting, K., Saitoh, S., Gross, S., Dittrich, B., Schwark, S., Nicholls, R.D. and Horsthemke, B. (1995) Nature Genet., 9, 395-400.
7. La Salle, J.M. and Lalande, M. (1996) Science, 272, 725-728.
8. Leighton, P.A., Ingram, R.S., Eggenschwiler, J., Efstratiadis, A. and Tilghman, S.M. (1995) Nature, 375, 34-39.
9. Leighton, P.A., Saam, J.R., Ingram, R.S., Siewart, C.L. and Tilghman, S.M. (1995) Genes Dev., 9, 2079-2089.
10. Moulton, T., Crenshaw, T., Hao, Y., Moosikasuan, J., Liu, N., Demliker, F., Henshe, T., Weiss, L., McMorrow, L., Loew, T., Kraus, W., Gerald, W. and Tycko, B. (1994) Nature Genet., 7, 440-447.
11. Steenman, M.J.C., Rainier, S., Dobry, C.J., Grundy, P., Horon, I.L. and Feinberg, A.P. (1994) Nature Genet., 7, 433-439.
12. Reik, W., Brown, K.W., Schneid, H., Le Bouc, Y., Bickmore, W. and Maher, E.R. (1995) Hum. Mol. Genet., 4, 2379-2385.
13. Morison, I.M., Becroft, D.M. Taniguchi, T., Woods, C.G. and Reeve, A.E. (1996) Nature Med., 2, 311-316.
14. Douc-Rasy, S., Barrois, M., Fogel, S., Ahomadegbe, J.C., Stehelin, D., Coll, J. and Riou, G. (1996) Oncogene, 12, 423-430.
15. Zhang, Y.Y., Shields, T., Crenshaw, T., Hao, Y. Moulton, T. and Tycko, B. (1993) Am. Hum. Genet., 53, 113-124.
16. Svensson, K., Walsh, C., Fundele, R. and Ohlsson, R. (1995) Mech. Dev., 51, 31-37.
17. Jinno, Y., Ikeda, Y., Yun, K., Maw, M., Masuzaki, H., Fukuda, H., Inuzuka, K., Fujishita, A., Ohtani, Y. Okimoto, T., Ishimaru, T.S. and Niikawa, N. (1995) Nature Genet., 10, 318-324.
18. Szabo, P.E. and Mann, J.R. (1995) Genes Dev., 9, 3097-3108.
19. Sasaki, H., Ferguson-Smith, A.C., Shum, A.S.W., Barton, S.C. and Surani, M.A. (1995) Development, 121, 4195-4202.
20. Li, X.R., Adam, G., Cui, H.M., Sandstedt, B., Ohlsson, R. and Ekstrom, T.J. (1995) Oncogene, 11, 221-229.
21. Weksberg, R., Shen, D.R., Fei, Y.L., Song, Q.L. and Squire, J. (1993) Nature Genet., 5, 143-150.
22. Ogawa, O., Becroft, D.M., Morison, I.M., Eccles, M.R., Skeen, J.E., Mauger, D.C. and Reeve, A.E. (1993) Nature Genet., 5, 408-412.
23. Weksberg, R., Teshima, I., Williams, B., Greenberg, C., Pueschel, S., Chemos, J., Fowlow, S., Hoyme, E., Anderson, J., Whiteman, D., Fisher, N. and Squire, J. (1993) Hum. Mol. Genet., 2, 549-556.
24. Sait, S.N., Nowak, N.J., Singh-Kahlon, P., Weksberg, R., Squire, J., Shows, T.B. and Higgins, M.J. (1994) Genes Chromosomes Cancer, 11, 97-105.
25. Mannens, M., Hoovers, J.M., Redeker, E., Verjaal, M., Feinberg, A.P., Little, P., Boavida, M., Coad, N., Steenman, M. and Bliek, J. (1994) Eur. J. Hum. Genet., 2, 3-23.
26. Hoovers, J.M.N., Kalikin, L.M., Johnson, L.A., Alders, M., Redeker, B., Law, D.J., Bliek, J., Steenman, M., Benedict, M., Wiegant, J., Lengauer, C., Taillonmiller, P., Schlessinger, D., Edwards, M.C., Elledge, S.J., Ivens, A., Westerveld, A., Little, P., Mannens, M. and Feinberg, A.P. (1995) Proc. Natl Acad. Sci. USA, 92, 12456-12460.
27. Norman, A.M., Read, A.P., Clayton-Smith, J., Andrews, T. and Donnai, D. (1992) Am. J. Med. Genet., 42, 638-641.
28. Reik, W., Brown, K.W., Slatter, R.E., Sartori, P., Elliott, M. and Maher, E.R. (1994) Hum. Mol. Genet., 3, 1297-1301.
29. Feil, R., Walter, J., Allen, N.D. and Reik, W. (1994) Development, 120, 2933-2943.
30. Kitsberg, D., Selig, S., Brandeis, M., Simon, I., Keshet, I., Driscoll, D.J., Nicholls, R.D. and Cedar, H. (1993) Nature, 364, 459-463.
31. Bickmore, W.A. and Carothers, A.D (1995) J. Cell Sci., 108, 2801-2809.
32. Sasaki, H., Jones, P.A., Chaillet, J.R., Ferguson-Smith, A.C., Barton, S.A.C., Reik, W. and Surani, M.A. (1992) Genes Dev., 6, 1843-1856.
33. Feil, R., Handel, M.A., Allen, N.D. and Reik, W. (1995) Dev. Genet., 17, 240-252.
34. Walter, J., Krüger, T., Engemann, S., Allen, N., Kelsey, G., Feil, R., Forné, T. and Reik, W. (1996) In Epigenetic Mechanisms of Gene Regulation. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY in press.
35. Smrzka, O.W., Fae, I., Stoger, R., Kurzbauer, R., Fischer, G.F., Henn, T., Weith, A. and Barlow, D.P. (1995) Hum. Mol. Genet., 4, 1945-1952.
36. Catchpoole, D., Lam, W., Valler, D., Temple, K., Reik, W., Schofield, P.N. and Maher, E.R. (1996) submitted.
37. Weksberg, R. and Squire, J. (1995) In Ohlsson, R., Hall, K. and Ritzen, M. (eds), Genomic Imprinting: Causes and Consequences. Cambridge University Press, pp. 237-251.
38. Gunaratne, P.H., Nakao, M., Ledbetter, D.H., Sutcliffe, J.S. and Chinault, A.C. (1995) Genes Dev., 9, 808-820.
39. White, L.M., Rogan, P.K., Nicholls, R.D., Wu, B.L., Korf, B. and Knoll, J.H.M. (1996) Am. J. Hum. Genet. 59, 423-430.
40. Hurst, L.D. (1997) In Reik, W. and Surani, M.A. (eds), Genomic Imprinting in Mammals, Frontiers in Molecular Biology. Oxford University Press, in press.
41. Carothers, A. and Bickmore, W.A. (1995) Biometrics, 51, 750-755.
42. Elliott, M. and Maher, E.R. (1994) J. Med. Genet., 7, 560-564.
43. Xuan, J.Y., Hughes-Benzie, R. and MacKenzie, A.E. (1995) Am. J. Hum. Genet., 57, A233.